About Scleroderma

Scleroderma is classified as an autoimmune disease. This means that a person’s immune system works against itself. The normal immune system protects the body by fighting off foreign invaders such as viruses and bacteria. In an autoimmune disease, the immune system mistakes a person’s own tissues as foreign invaders and attacks the wrong things.

In scleroderma, cells start making collagen as if there were an injury that needs repairing. The cells do not turn off as they should and end up making too much collagen. The extra collagen in the tissues can prevent the body’s organs from functioning normally. This is what is often referred to as fibrosis or “scar tissue”.

Scleroderma has few rules about who gets it and why.  It’s a rare disease and fewer than half a million people in the United States are affected.  Some experts say that for every 7 people with scleroderma, 6 of them are women.  The most common age to develop scleroderma is between 35 and 50 years of age.  Young children and older adults can also develop scleroderma.

The earliest symptoms of Scleroderma are often fingers that become very sensitive to cold and/or stress and fingers that sometimes change color.  These changes in your fingers are known as Raynaud’s and are caused by the excess collagen of Scleroderma that narrows blood vessels and reduces the flow of blood to body tissues and organs.

Limited Scleroderma is the milder form of scleroderma and is more common among Caucasians.  Patients with Limited scleroderma, also formerly known as CREST, usually have only thickening of the skin on the fingers.  The letters in the word CREST stand for the symptoms of the disease.  Everyone is different and has a different pattern of symptoms.

• C is for Calcium deposits in the body tissues
• R stands for Raynaud’s Phenomenon
• E is for Esophageal reflux, commonly referred to as heartburn
• S is for Sclerodactyly or thick skin on the fingers
• T is for Telangiectasias which are enlarged blood vessels that appear as red spots on the face and other areas

Generally CREST does not involve other body organs, but scar tissue in the lungs can build up. Importantly, not every patient with limited scleroderma has every symptom of CREST.

Diffuse scleroderma is the most involved form of scleroderma. Thickness of the skin on the arms, legs and trunk can occur, and internal organs are more likely to be involved.  Tightened skin makes movement of some joints difficult.  People may experience trouble bending  fingers, hands and joints. Also, they will also have a smaller mouth opening caused by tightness on the face.  This makes it difficult to open the mouth wide and makes it hard to close the mouth completely over the teeth.

A person who has Diffuse scleroderma may have areas of the skin that are lighter and darker.  Some will lose hair, have dry skin and sweat less all due to changes in the skin.  Diffuse scleroderma can cause changes to the gastrointestinal tract, heart, lung or kidneys.

Increasingly, physicians use markers in the blood called autoantibodies to help determine the course of scleroderma and overall prognosis. Not every patient will produce an autoantibody, but the three most common include centromere, topoisomerase (Scl-70), and RNA polymerase 3. In general, a patient will only produce one scleroderma autoantibody, and not multiple. Also, once positive, the autoantibody does not change over time. Knowledge of the autoantibody helps also determine how the patient should be monitored over time. For example, a patient with RNA polymerase 3 may have to monitor their blood pressure more at home, whereas a patient with topoisomerase may need more frequent lung evaluations.

You should discuss this with your doctor.  It takes some courage, but it will open up communication.  Another way to get your doctor to listen is to be brief and to the point.

Ask for more time when you make an appointment.  Don’t wait until you arrive for your appointment.  You should expect to pay extra because the time you’re using can’t be used by another patient.  Also, make the most of your time with the doctor by going to the office prepared.  Bring a written list of questions and concerns.  Hand the list to your doctor when you arrive and be sure the questions are answered before you leave.

If you don’t understand something, don’t be afraid to speak up.  Doctors sometimes forget their patients don’t speak the same language.

• Exactly for what reason is the medication being prescribed?
• Do I really need the medication?
• What will it do?
• How and when do I take the medication and for how long?
• What foods, medications or activities should I avoid while taking the medication?
• What are the possible side effects?  What should I do if they occur?
• Are any tests required to monitor the medication?
• Can I use an alternative or generic medication that is less expensive?

Unfortunately, there is no way your doctor can know for sure.  You made need to try a number of medications before you find the best one.  This trial-and-error method can be costly.  To keep down costs:

• When starting a new medication, if it’s possible to know in a short time whether or not it will work for you, ask for a prescription for only a week or two with refills
• Ask for samples
• Don’t be discouraged if you have to try several different things
• Call your doctor if you’re having a problem and don’t have an appointment in the near future

Like with any change, it will take time to get used to it.  There is a difference between being a victim suffering from an illness and being a person living with a disease.  The word victim brings to mind being passive and helpless while the term person living with brings to mind an individual who is influenced by an illness but not defined by it.  It denies a sense of acceptance of the illness with the idea that you continue to be the person who you have always been.  You cannot let yourself be defined by scleroderma.  This is a hard goal to achieve, but it will help you in coping with the unpredictable and uncertain nature of scleroderma.  Your family, your doctor, your priest, minister or rabbi, or a counselor can help you with this goal.

By taking charge of your illness, you will feel more in charge.  Having a sense of control and having positive things in your life can help you to cope better with your illness and have a better quality of life.  Your illness is only one part of your life. To really take care of yourself you need to balance the more difficult parts of your life with more positive things such as fun activities and physical exercise.  These will help you to have a more positive mental outlook which may help you to cope better with your illness,

If your doctor has approved an exercise program for you, you should set aside time for it and exercise several times a week.  Start slowly.  For the first few times, you might limit your activity to warm-up exercises only.

Unfortunately the less active you are, the more your body becomes weak, stiff and out of shape. This can make pain and fatigue even worse.  Ask your doctor about what exercises or flexibility and strengthening programs might be good for you.  He or she can tell you what level of activity is right for you. Even if your doctor recommends against exercise, think about how you can spend time out of bed doing activities you enjoy.

Yes, there is. Start slowly with flexibility and strengthening warm-up to get ready for more intense exercise later on.

Fatigue is a frequent problem and can seriously alter your sex life.  Like any activity that is important to you, you may need to pace yourself and rest up to continue your sex life.

The vagina can become dry with less lubrication during arousal. This can make sex uncomfortable or even painful.  Vaginal lubricants can be bought in most drugstores and are very helpful.  It’s important to look at other causes of vaginal dryness before blaming Scleroderma.  Menopause and the drop in female hormones that goes with it can also cause vaginal dryness.  If this is the case, an estrogen replacement in pill form or in a vaginal cream may be helpful.

Some women find sex painful because they can’t find a comfortable position.  Symptoms of reflux (such as heartburn) can be made worse by lying flat and having the weight of a body on top.  Joints may feel stiff and not move as easily.  A warm bath may help.  Being open to new positions or activities are also important.

The penis becomes erect when more blood is directed to it than drains from it.  The part of the nervous system that is responsible for this is called the parasympathetic nervous system.  There is evidence to show this part of the nervous system is affected in scleroderma.

Vascular problems may also be responsible.  The blood supply to the penis can also be changed.

Once damage to nerves or vessels happens, it may not be possible to reverse it.

Problems with erections can also be caused by medication side effects.  Calcium channel blockers are often used to treat Raynaud’s phenomenon.  These medications improve the circulation to the fingers but decrease circulation to the penis.  Discuss this issue with your doctor before you stop the medication.

Medications such as Viagra/Cialis can improve the circulation and improve erectile dysfunction.  Other treatments such as penile implants may also be helpful.  You may want to discuss the alternatives with your doctor or be referred to a urologist.

• Try to set up a calm and relaxed atmosphere
• Find positions that are comfortable for both of you
• Avoid sexual activity when you are really tired
• Avoid sexual activity after a big meal
• Avoid drinking alcohol before sex
• Check with you doctor to see if you’re taking medications which may be interfering
• Rest up and plan for sexual activity
• Stay as active as possible
• If you are having problems with arousal, or loss of interest in sex, it may be due to depression.  If treatment for depression doesn’t help, you may want to consult with a professional sex therapist.

The normally working esophagus moves food and drink down through the esophagus through the lower esophageal sphincter into the stomach.  The lower esophageal sphincter stops the stomach contents from going backward up to the esophagus.

In the stomach, food and drink mix with stomach acid which helps to break the food down into small pieces that can be absorbed.  The stomach contents are dumped into the small bowel near the common bile duct.

The bile duct adds salts and enzymes that break the food down further. As the food continues to move downward, nutrients (good stuff) are absorbed.

Roughage that can’t be digested passes through the small bowel to the large bowel.  The large bowel soaks up water.  The rectum holds the rest until you have a bowel movement.

GI disease often begins with a decrease in appetite.  This often means eating less and losing weight.

You may experience trouble chewing food because of dry membranes in the mouth.  These dry membranes may be caused by Sjogren’s Syndrome.  Scleroderma can affect facial; skin around the mouth making it tighter than usual. This can make chewing and opening the mouth fully more difficult.

Difficulty swallowing:

Difficulty swallowing food is called dysphagia. Food gets stuck somewhere in the passage between the mouth and the stomach. There isn’t enough muscle power in the esophagus to move the food to the stomach. Drinking a glass of water can help wash the food down.  Taking smaller bits of food and chewing food longer than usual can also help.

Normally dysphagia is not painful, but it can be uncomfortable.  If it does hurt, it’s possible you have developed an ulcer on the esophagus or an infection.  Ulcers can occur from repeated exposure to stomach acid caused by reflux

Reflux and Heartburn:

Reflux is a “backwards flow” of stomach acid moving back up into the esophagus.  Normally stomach acid stays in your stomach because it is blocked from going up by the lower esophageal sphincter. When a person has a reflux problem, the sphincter is too weak to hold the acid back.

Heartburn is a burning sensation in the chest that is caused by stomach acid moving backwards into the esophagus. It can also cause a bad taste in your mouth, particularly in the morning.

Stomach acid can also cause atypical chest pain, coughing, asthma-like wheezing due to aspiration, hoarse voice and a feeling of gagging.

It can be painful and uncomfortable.  The stomach’s lining is strong enough to stand the stomach acid but the esophagus is not.  Over time the esophagus can be damaged by acid reflux. Simple changes in daily living and eating habits can help to prevent some of the damage.  There are also medications that have been proven effective.

• Don’t eat within two hours of bed time.
• Move the main meal towards midday
• Eat more frequent small meals instead of one or two large meals.
• Eat sitting up.
• Eat slowly.
• Chew food thoroughly.
• Drink sips of water between bites and make sure each mouthful is fully swallowed before taking the next bite.
• Avoid carbonated drinks.  They will fill your stomach with air and push the contents up.
• Don’t exercise after eating.
• Elevate the head of the bed at least four inches by placing it on wooden blocks.  Just propping your head up on pillows won’t work because it doesn’t lift your esophagus above your stomach. Pillows should be wedged from the low back upward to avoid bending the neck or torso.
• Limit actions that increase pressure on your stomach such as bending, vigorous exercise or tight clothing.
• Try to keep your body weight within a healthy range.  An overweight abdomen can put pressure on your stomach.

Yes. However, not all foods worsen reflux for all patients. Some exploration and experimentation may be needed to determine which foods trigger worse symptoms.

• Alcohol
• Caffeine, coffee (regular and decaf)
• Chocolate
• Acidic foods ( citrus fruits like oranges, tomato sauce)
• Fried foods
• Raw vegetables
• Foods with high fat content ( fast foods, nuts, dairy products)
• Spicy foods
• Onions

Smoking will also aggravate reflux.

• Over-the Counter Antacids
• Gaviscon
• Tums
• Di-Gel
• Mylanta
• Maalox
• H-2 Blockers
• Tagamet
• Zantac
• Pepcid
• Axid
• Proton Pump Inhibitors
• Prilosec
• Prevacid
• Protonix
• Aciphex
• Nexium
• Zegerid
• Others
• Carafate
• Reglan
• Motilium

• Getting full with less food
  • This happens because the stomach does not empty as quickly as normal.  This may lead to weight loss.
• Nausea or Indigestion(burping)
  • These symptoms could be due to the stomach not emptying quickly.  It may seem like the stomach is blocked.  In extreme cases this can lead to a gastric obstruction which will cause you to vomit your food or gastric paresis (slow moving stomach) which causes problems with bowel movements.
• Erosions or Ulcer Formation
  • These can result from the buildup of acids or from the use of certain medications.  They cause pain, indigestion and bleeding.  There are medications to treat erosions and ulcers.
• Telangiectasias
  • Telangiectasias are dilated blood vessels that can bleed. They can occur on the wall on the inside of the stomach. It is called a watermelon stomach because the vessels make the stomach wall look like the green stripes on the surface of a watermelon. It can be treated with laser therapy that removes the vessels during an endoscopy.  Rarely the vessels may be closed off by a surgical procedure.

• Gas, Cramps and Bloating
  • The first symptom of bowel problems may be bloating after eating.  People also complain of feeling gassy or cramping.  Cramping is caused by the unusually hard muscle contractions as the muscles try to move something through. When this is severe, sometimes antibiotic therapy can help to kill an overgrowth of bacteria which is often the cause.
• Constipation
  • Some people find a high fiber diet can help to reduce constipation.  Others find a high fiber diet worsens their gassiness.  Exercise helps promote motion in the bowels, and it is very important to stay hydrated.  A stool softener can help, but laxatives should be avoided. Miralax is used by some.
• Diarrhea
  • Diarrhea occurs when the normal bacteria in the large bowel spreads backward into the small bowel. Diarrhea can also be caused by medications.  Antibiotics and medications are available to treat diarrhea.
• Obstruction
  • A bowel obstruction is a serious GI problem that can occur.  Something is blocking the passage of waste.  When this happens the stomach can be bloated with pain. In scleroderma this happens without evidence of true blockage or obstruction but rather due to slow movement due to smooth muscle weakness. This is called pseudo-obstruction.  The person is not able to move his or her bowels and may feel nausea.  This situation is an emergency and needs immediate medical attention. It should be treated without surgery.
• Bowel Incontinence
  • When this happens the person has difficulty holding their bowels and may have accidents. This happens because the rectum has two sphincters (muscles that block the stool)  that weaken and thus the stools can slip out. This is uncommon in Scleroderma patients but may be seen in the late stages of the disease.  Treatment is available.

This is a result of Raynaud’s Phenomenon.  Raynaud’s is a change in your fingers caused by the excess collagen of Scleroderma that narrows blood vessels and reduces the flow of blood to body tissues and organs.  Raynaud’s phenomenon is oftentimes the earliest symptom of Scleroderma.

The color change is an exaggeration of what normally happens when hands are exposed to the cold.  However, the normal cold response is a blotchy red and white pattern while the color changes of a Raynaud’s attack— white, then blue or purple are very different.  At the end of the attack, the fingers turn red which is the result of blood flowing back to the fingers in a rush. This may be painful or associated with a ‘pins and needles’ sensation.

Yes, many people have Raynaud’s attacks in their toes.

Yes they can.

• Keep your entire body warm, not just your hands and feet
• Bring extra layers of clothing when you’re going somewhere that might be cold
• Wear hats in cold weather
• Use a space heater in the bathroom or at your office at work if it gets too cold
• Warm up your bed with an electric blanket or hot water bottle; Use flannel sheets
• Warm up your car before you leave the house; Use a remote car starter; Cover your steering wheel with a lambskin wheel cover
• Wear mittens (not gloves) and warm socks when the temperature drops below 65 degrees.  Use chemical or battery operated hand and foot warmers
• Take extra precautions to protect your fingers and toes from the cold
• Keep gloves everywhere
  • In kitchen for reaching into the refrigerator or freezer
  • In office desk for when air conditioning is high
  • In purse or pockets to be used in frozen food areas in grocery store
• Try to avoid sudden changes in temperature
• Wear comfortable shoes and socks that allow for good circulation
• Avoid stressful situations
• Other things can trigger a Raynaud’s attack:
  • Air conditioning
  • Holding a cold drink
  • Washing something in cold water

The most common medications are called vasodilators.  Calcium channel blockers are the most effective.  They stop the spasm of arteries in Raynaud’s phenomenon.  Other vasodilators include Viagra (sildenafil) or other newer agents. A topical nitroglycerin cream can also be used.

Other medications can sometimes be helpful that are not vasodilators, such as statin medications (typically prescribed to lower cholesterol) and SSRIs (typically prescribed for depression or anxiety). A low dose aspirin may often be prescribed, particularly for those patients with digital ulcers.

For more severe Raynaud’s Phenomenon with digital ulcers intravenous prostaglandins are given.

Other interventions such as botox injections or autologous fat transplantation are less proven strategies and only considered in special cases. 

Biofeedback has been shown to be helpful.  Biofeedback uses a machine to give you information on the temperature of your hands.  A biofeedback therapist can teach you skills for increasing the blood flow and warming the temperature of your hands.

Your body has produced extra collagen in your skin.  Collagen is what makes your skin firm and also what your body makes to help heal wounds. In Scleroderma, the cells start making collagen as if there were an injury that needs to be fixed.  The excess collagen gets into the dermis layer of the skin and causes it to thicken and feel tight and hard.

The degree of skin involvement varies from patient to patient a great deal. Most have “limited scleroderma” with only the fingers and mild face involvement. Others have “diffuse scleroderma” with many areas of the body affected. Skin thickening usually begins on the fingers.  In the diffuse form it can, over time, be on the back of the hands, the forearms, the upper arms, the face, the neck, the trunk, the legs or the feet.  Similar to thickening of the skin, fibrosis or excess collagen can even occur in the internal organs.

In general, without treatment, the skin thickening will reach its peak within 1-2 years after it starts and will then begin to loosen.  How much it will loosen will vary from person to person.

Some areas may get darker (hyperpigmentation) while other areas may develop a patchy loss of skin color (hypopigmentation). Large patches of pigment loss can also happen. The thickened skin can look shiny and scaly from being dry. The pigment changes get better over time and the skin tone usually returns to its normal appearance after several years. You may also develop red spots caused by the widening of small blood vessels in the surface of the skin (called ‘telangiectasias’). These changes are not painful but may be a cosmetic problem.

Generally it is best not to try to change the color with drugs or creams but cosmetics that cover better are helpful. Avoidance of sun will prevent increased pigment and decreasing scratching of the skin will reduce damage and prevent loss of pigment. Creams and lotions that moisten the skin can prevent further skin damage. Prescription creams with vitamin A are sometimes given.

The most common visible change is tight skin on the fingers causing bending of the fingertips toward the palm, termed ‘flexion contractures’. Tight skin on the face may reduce the size of a person’s mouth opening, create a few small vertical lines around the lips and in some cases interfere with drawing the lips over the teeth. You may experience hair loss on the arms and legs, sweat less or develop skin sores where the skin is injured by trauma. Some patients will develop small calcium deposits in the tissues of the fingers, in the bursa (sac) over the tip of the elbows, rarely over the kneecaps or in other pressure areas.  If the deposits open, they may become infected. You should contact your doctor if this happens.

Typically this is a result of either active scleroderma skin disease, or more commonly, dry skin. Dry skin is caused by several things. First the extra layer of collagen in the inner layer of skin destroys normal sweat and oil glands.  Second, the outer layer of the skin usually has fatty substances that moisten the skin. In scleroderma, this outer layer often gets thinner so there is less oil. Finally, in the early phase of scleroderma inflammation in the skin releases histamine and other chemicals that can cause the skin to itch.

Without treatment, itching from inflammation normally occurs in the first 6 months to 2 years of the disease and then gets better as the inflammation disappears.  However, when the skin is thickened and damaged it may have the problem of itching for many years.

Avoid:

• Scratchy fabrics such as wool
• Rubbing alcohol or other products containing alcohol (perfume)
• Harsh soaps, detergents and household cleaners such as: Wisk, Lestoil, Arm and Hammer, Woolite, Cheer, Tide, Liquid soaps, detergents with extra power or brighteners, store brand soaps.
• All fabric softeners
• Hot baths
• Excess cold exposure
• Vigorous exercise
• Active or passive cigarette smoke

Use:

• All Powder, Das Powder, Ivory Snow and Safeskin

Avoid excessive heat, as this may be contributing to dryness. Use mild, unscented or moisturizing soaps such as: Alpha Kerry Dove, Aveeno Bar (dry skin formula), Lever 2000, Neutrogena (dry skin formula).

Do not use: Ivory, Dial, Zest, Safeguard, Jergens, Lava, Lifebuoy, Camay, Coast, Cuticura or Irish Spring soaps.

• Limit the use of soap to areas that are likely to have body odor.  Rinse well.
• Use mild, non-drying shampoos such as: Neutrogena Regular, DHS Clear, Duplex or Progaine.
• Use warm, not hot water.
• Take soothing baths. Add ½ cup baby oil to your bath. Bathe with Aveeno Oatmeal, Oilated Aveeno, Cornstarch, Mineral Oil or Cottonseed Oil.
• Put moisturizers over your entire body immediately after bathing or showering.  Use such products as: Eucerin Cream or Lotion, Neutroderm, Lubriderm, Complex-15, Alpha-Keri Lotion, Eutra Lotion, Neutrogena Hand Cream, Candermyl Cream, Moisture, Aquaphor Ointment, Lacticare Lotion, U-Lactin Lotion, Theraplex Lotion and Emollient.
• Moisturize often.
• Use cooling agents such as menthol or camphor (Sarna Lotions).
• Use gloves when using any substances that are rough on the hands.
• Avoid excessive cold or heat exposure.
• Avoid topical numbing agents or antihistamines since they tend to be drying.
• Avoid electric blankets except to warm the bed. Their constant heat will cause you to lose body moisture.

These sores are called digital ulcers and are caused when excess collagen collects on the inside of blood vessels causing them to narrow and restrict blood flow.  They occur most often on the fingertips but can develop anywhere on the finger or toe when the skin in stretched too tight.  Sores can also appear at pressure points, like elbows. Sores may be very painful and can make it difficult to use your hands or other parts of your body.

• Avoid stress and cold
• Keep as warm as possible
• Wear layers of clothing
• Wear hats in cold weather
• Wear shoes and socks that provide room for circulation
• Use Band-Aids

• See a doctor
• Keep ulcers clean
• Use medication if infection develops

Specific therapies exist and are usually efficacious in the treatment of the organ-specific manifestations of scleroderma, and can greatly improve symptoms and reduce morbidity and perhaps mortality. A focused discussion of these organ-specific therapies should be individualized to each patient. A review of the details of these treatments is beyond the scope of this chapter, but is covered in detail elsewhere in this book.

Patients who have scleroderma should be seen by a rheumatologist for consultation. It is important to recognize that scleroderma is a chronic systemic disease that has both a physical and emotional impact on the patient. A comprehensive history and physical examination will define the type of scleroderma, the potential organ involvement and give insight into the level of disease activity. The type of laboratory testing that is needed is dictated by the history and physical findings. The initial evaluation needs to focus on the specific organ involvement and pertinent non-scleroderma-associated medical and social problems. It is most important that the physician understand the full impact the disease has on the quality of life and to use a team approach to management. This team effort should include the patient, family, appropriate friends, non-physician medical staff and whatever other medical specialist that are needed. It must be appreciated that scleroderma is a rare disease without a proven curative therapy. Many current treatments are potent and complex medications. Referral to a scleroderma center is recommended both to take advantage of the expertise of a “scleroderma specialist”; but also to participate in novel therapy and new research initiatives.

At each visit, the physician should assess the level of skin involvement by performing a skin score. This is done by palpation of the skin to determine the degree of thickening. Seventeen areas (fingers, hands, forearms, upper arms, face, chest, abdomen, upper leg, lower leg and feet) are scored from normal (zero) to severe (3) thickness. The maximum score is 51. The skin score provides a semi-quantitative method to characterize the degree of skin involvement and classify the patient as having limited or diffuse scleroderma. Palpation of the skin can also stage the disease and give some sense of disease activity. Active disease is associated with inflammatory signs (e.g. edematous skin) while inactive skin disease is manifest by thickened sclerotic skin typical of mature scar tissue. Usually, physical features can determine the subgroup of scleroderma at first visit. However, if the patient has new onset disease then serial observations at short intervals (approximately once per month) are necessary to fully appreciate the disease type. The degree of skin disease and the level of disease activity provide clues about the risk for internal organ involvement. The higher the skin score, the worse the prognosis and there is a higher the risk for internal organ involvement. Active skin disease correlates with active disease in other organs (e.g. fibrosing alveolitis or renal crisis). Thus a very simple beside examination of the skin will give information about both severity and activity of the disease.

Patients with scleroderma should monitor their blood pressure regularly. Particularly in patients with early diffuse scleroderma, this should be done frequently (daily) using a well-calibrated home blood pressure device. It is this subset of patients who are at greater risk for kidney disease (known as scleroderma renal crisis). Scleroderma kidney disease usually presents as new systemic hypertension that may be asymptomatic. Evidence suggests that renal blood vessels suddenly constrict (Raynaud’s phenomenon of the kidney), dropping blood flow to the body or cortex of the kidney. Left untreated, the low blood flow leads to tissue damage and kidney failure. This reversible problem was the leading cause of death in scleroderma before new treatment was discovered. Rarely, renal failure secondary to scleroderma vascular disease occurs in the absence of hypertension. Patients with hypertension should be treated as a medical emergency with rapid assessment of renal function (urinalysis and blood testing) and control of any blood pressure elevation with an angiotensin converting enzyme (ACE) inhibitor. Patients with evidence of renal crisis often need to be hospitalized to order to monitor blood pressure and renal function closely and to titrate medications.

Lung tissue and the blood vessels in the lung can be affected by the scleroderma disease process. Therefore, the lung and heart need to be carefully evaluated in every patient both at the onset of the disease and periodically thereafter. A full set of pulmonary function testing (spirometry, lung volumes and diffusing capacity) should be obtained on the first encounter and, if results are abnormal, carefully evaluated. Scleroderma causes a restrictive ventilatory defect (small lungs) secondary to an inflammatory process in the lung alveoli (air sacs). This process, left untreated, leads to fibrosis of the lung tissue (a fibrosing alveolitis) that interferes with normal gas exchange from the air to the blood.

It is challenging to detect lung involvement in scleroderma because active disease may be present in the absence of symptoms. The physical examination and traditional chest x-ray are insensitive methods to detect early lung disease. Pulmonary function testing is very sensitive and reliable but defines function of the lung and not the activity of the disease. Serial pulmonary function testing can define activity, but several months must pass before changes occur. If the pulmonary function tests are abnormal, then a high-resolution computed tomography (CT) scan can detect early lung fibrosis and inflammatory changes. If the lung function test results are normal, it is recommended that they be repeated every 4 to 6 months in patients with early diffuse scleroderma. Patients with worsening lung function by pulmonary function testing or abnormalities on high resolution CT scan should undergo a bronchoalveolar lavage (BAL). This investigation obtains fluid and cells directly from the lung. Cell counts, determination of cell types and other special studies can define disease activity with precision. A patient with abnormal results on the BAL study suggestive of active lung disease should be treated with immunosuppressive or other therapy.

The right heart pumps blood into the lung to get oxygen to the body. Usually, this is a very low-pressure system because the lung and its blood vessel are a system with very low resistance. If the blood vessels or lung tissue becomes diseased, then the pressure in the pulmonary circulation and the right heart rises (pulmonary hypertension). Pulmonary hypertension generally occurs late in scleroderma. The rapid onset of severe pulmonary hypertension presents primarily in patients with limited scleroderma after years of relatively mild disease (e.g. sclerodactyly, GERD and Raynaud’s phenomenon alone). A 2D-echocardiography (ultrasound test of the heart) study is a simple, non-invasive method of assessing heart function and estimating right ventricular systolic pressure (an indirect method of estimating pulmonary artery pressure). Patients with signs or symptoms of right heart failure who have abnormal right ventricular systolic pressure may need a right heart catheterization to determine the exact pressure and the need for therapy. Severe pulmonary hypertension can shorten the patient’s life. Early detection is important because new medications are now available to treat this disorder. Therefore a 2D-echocardiogram should be done on a yearly basis on every patient with scleroderma.

Although most patients do not have serious heart disease, care must be taken to discover heart disease. Heart disease in scleroderma is usually asymptomatic until the late stages of disease. Periodic monitoring with careful bedside examination, periodic 2D-echocardiography and electrocariography are most important. The heart may be affected by scleroderma microvascular disease, tissue fibrosis, pericardial disease and inflammation of the heart muscle (myocarditis). Although scleroderma may cause heart disease, non-scleroderma causes of heart disease are more frequent and need to be detected and prevented when possible. The traditional risk factors (e.g. family history, hyperlipidemia, smoking) also exist in the scleroderma patient and care must be taken to practice good internal medicine in these patients. Therefore, a lipid profile should be obtained on every patient with scleroderma.

Evidence suggests that the involuntary muscle of the gastrointestinal tract (smooth muscle) can be affected in scleroderma. When this muscle is involved, abnormal motor function of the esophagus, stomach, small or large bowel results. Difficulty with swallowing, dyspepsia, heartburn, early stomach filling/delayed emptying, constipation and diarrhea – all or some of these symptoms can result. Minor gastrointestinal symptoms are more common then severe problems. Typical (heartburn) or atypical (chest pain, gagging, dry cough) gastrointestinal reflux symptoms are almost universal among both limited and diffuse scleroderma patients. If untreated, inflammation of the esophagus, esophageal stricture, gastrointestinal bleeding or poor quality of life may result. Special testing may be necessary, particularly if the patient does not respond to routine therapy (e.g. a proton pump inhibitor). Endoscopy, motility studies or swallowing studies are used to fully appreciate the severity and complications of the gastrointestinal disease. The timing of these studies is dictated by symptoms and response to therapy. Several medications now exist that can effectively treat the gastrointestinal manifestations of scleroderma, including medications to treat acid reflux and motility problems.

In general the liver and biliary system is not affected by scleroderma. However, autoimmune hepatitis and primary biliary cirrhosis are associated with the limited form of scleroderma. Therefore, liver function test should be obtained in every patient.

Dry membranes of the mouth and eye are very common complaints. Dysfunction of tear or salivary glands secondary to an autoimmune process or tissue fibrosis is thought to be the cause. Tooth decay and periodontal disease need to be prevented. These problems are due to a decrease in normal saliva and difficulties performing dental care, particularly in patients with a decreased oral aperture. Identifying this problem is very important and instructing the patient to have frequent dental care is essential.

Musculoskeletal complaints are common in the rheumatic diseases and scleroderma is no exception. Arthritis can be detected by physical examination but muscle disease may be asymptomatic until weakness occurs. Muscle weakness, secondary to an autoimmune mediated inflammatory myositis or a non-inflammatory fibrotic myopathy, can be detected by measuring muscle enzymes (CPK, aldolase and transaminases). If the enzymes are abnormal, then further specialized testing (EMG or muscle biopsy) may be necessary. It is equally important to carefully determine if other causes of muscle weakness exist. These include fibrosis of the muscle secondary to the scleroderma process, weakness from disuse or wasting from deconditioning and malnutrition. Patients also can have a non-scleroderma cause of muscle weakness including metabolic disease (e.g. hypothyroidism), side effects from medications (e.g. lipid lowering agents and corticosteroids can induce myopathy) or another disease process (e.g. tumor associated myopathy). When weakness is present, all of these causes must be considered and investigated. Once a cause is determined, effective therapy can be instituted.

Raynaud’s phenomenon and cold intolerance are seen in almost every patient with scleroderma. Patients often feel worse in winter months and complications from Raynaud’s phenomenon such as digital ulcerations are more likely to occur in the cold winter months. In addition to management with vasodilator therapy, patients must be taught about cold temperature avoidance and stress control. Careful examination for larger vessel disease is important. For example, patients with limited scleroderma and severe Raynaud’s phenomenon with digital amputation often have evidence of macrovascular disease such as ulnar artery occlusion. In addition, care must be taken to detect other causes of vascular disease including diabetes, atherosclerosis, emboli or a hypercoagulable state. A comprehensive care plan to manage the vascular disease of scleroderma is usually warranted.

When the disease is in the active phase, constitutional symptoms of fatigue and low energy are common. These are often coupled with inability to sleep normally. Sleep is disrupted by fear of the illness, depression, pain, skin itching and/or specific internal organ dysfunction (e.g. heartburn from gastrointestinal reflux or shortness of breath from heart or lung failure). The lack of sleep amplifies daytime symptoms; especially diffuse soft tissue pain and fatigue. Disordered sleep is treated by both non-drug and drug therapies.

Scleroderma does not appear to cause central nervous system dysfunction. It is, however, associated with mood disorders (depression), altered self-image and sexual dysfunction. The cause of these problems is likely multifactorial, but should be addressed in each patient. Fear of the disease (anxiety/panic) and depression are often not revealed by the patient because of the embarrassment of discovering an emotional illness or the fear of appearing psychiatrically ill. The physician must allow time to specifically explore this aspect of the patient’s health and he or she should provide the opportunity for the patient to get the appropriate therapy. Recent studies show that pain is a major cause of depression in scleroderma. If pain is left untreated, the patent’s level of distress escalates and his or her quality of life declines. One of the most intense sources of pain in scleroderma is the deep tissue fibrosis that causes joint contractures and tendon friction rubs in patients with the diffuse form of the disease. The traditional anti-inflammatory medications (NSAID and corticosteroids) are not particularly effective and low dose narcotics may be necessary.

Self-image is a complex concept that is often not mentioned by the patient or addressed by the physician. Scleroderma can be disfiguring and almost always affects the face and hands, two areas that are important cosmetically. Patients can be more distressed by facial telangectasias and deformed hands than occult lung or heart dysfunction. Although the management of self-image problems in scleroderma is not well studied, the emotional impact of this aspect of the disease needs to be recognized and treated.

Every person has an important social role in life. Scleroderma can disrupt one’s ability to perform their usual role as mother or husband or good student or superb tennis player, etc. Often the individual becomes a “scleroderma patient” both in the physician’s office and at home. It is most important that every effort is made to have the patient maintain their social role in the family and elsewhere. For example, the physician must recognize that individuals are comfortable when they are in control of their daily activities. A chronic illness like scleroderma takes that control away and adds an element of fear of the unknown. In managing the person with scleroderma, the physician must recognize this and engage the patient in his or her own health care. The patient should have easy access to the physician and be part of the “team” providing care. The family needs to understand and appropriately adjust, but at the same time allow the patient to be an individual who continues his or her proper role in the family.

Sexual function is often impaired in scleroderma, yet rarely discussed or managed. In fact, there are few studies that define the magnitude of the problem or provide clear guidelines for treatment. Erectile dysfunction is common among males with scleroderma and is thought to be secondary to abnormal microvascular function and local tissue fibrosis of the corpus cavernosum. All males with erectile dysfunction should be carefully evaluated and treated appropriately (e.g. sildenafil). Sexual dysfunction among women with scleroderma is not well studied. Open discussion about sexual relationships and the need to design an intervention is most important. Professional counseling, and treatment of pain, dry membranes and anxiety or depression can be helpful.

Recognizing the physical, emotional and social impact of scleroderma can enhance quality of life. Patients can be consumed by the disease to the point that their usual life activities are diverted to health care issues only. Health care needs to be blended into a formula that allows the patient to be in control and to enjoy usual aspects of daily living. Surprisingly, the impact of scleroderma on the quality of life does not necessarily correlate with the severity of the disease. Patients with relatively mild disease can be devastated because they know they have scleroderma. Sometimes this response is dictated by the personality traits of the affected individual but it is almost always strongly influenced by how the patient is handled by their physician(s) and the availability of various types of social support. Misconceptions about scleroderma are the most common cause of distress. Often patients with mild disease have the concept that they have an untreatable fatal disease. The lack of a cure is translated into “no treatment is available”. Education, expert care, and institution of comprehensive medical management improve quality of life.

The most important intervention that a physician can perform for patients with scleroderma is educating them about the disease process and emphasizing that sustained contact with their physician is vital. Regular physician visits, routine screening procedures and prompt attention in the time of an acute crisis are crucial in the management of scleroderma.