Understanding Scleroderma

Scleroderma is a chronic autoimmune disorder that can be challenging to diagnose, as its symptoms can mimic those of other conditions. A thorough medical history, physical examination, and a combination of diagnostic tests are used to diagnose Scleroderma. Here are the steps involved in diagnosing Scleroderma.

The cause(s) of scleroderma are unknown. Scleroderma involves the blood vessels and immune system and results in fibrosis (scarring). There are genes and groups of genes which seem to determine what type of scleroderma occurs.

Scleroderma cannot be cured (yet)! But scleroderma is a treatable disease! All scleroderma patients should consult with their medical provider prior to beginning any specific treatments.
 

About 80% of persons who have Scleroderma are women. It is estimated that about 300,000- 700,000 Americans have scleroderma. About 2.5 million persons world-wide have scleroderma. Scleroderma occurs most frequently between the ages of 25 and 55 years, although it can begin in infancy or in those greater than 70 years old. About one third of those with scleroderma have the systemic form of scleroderma. The disease may occur more frequently in Blacks than Whites, less frequently in Asians than Whites and about equally in Latinx/Latins and Whites.

Localized Scleroderma: Most common which accounts for approximately 70% of those diagnosed. characterized by skin changes. Patches of skin thickening, color changes and a waxy or shiny appearance.

Systemic Scleroderma:  Also known as Systemic Sclerosis. This form affects not only the skin but can damage internal organs. It affects the lungs, heart, kidneys and gastrointestinal. It is characterized with a combination of skin thickening and Raynaud’s (Poor blood flow to fingers and toes causing white, blue and purple colorations)
 

C.R.E.S.T. : Is characterized by five symptoms. Calcinosis (Calcium deposits under the skin), Raynaud’s, Esophageal dysmotility (Difficulty swallowing), Sclerodactyly (Thickening skin) and Telangiectasias (Red spots caused by dilatated blood vessels).

Limited Cutaneous Scleroderma: Affects the skin on the face, neck and trunk, not the organs.

Diffuse Cutaneous Scleroderma: Affects the skin but larger areas, including the arms, legs and sometimes the internal organs.
Scleroderma

Morphea: This form is distinguished by discolored patchy areas of thick skin. These patches may enlarge, shrink or disappear.
Linear Scleroderma: Is more common in children ten and under. Tight, thick bands can appear on the back and front of the trunk. It can involve joints affecting the motions.  

Subcutaneous Scleroderma: This type affects the skin and subcutaneous tissue. The first areas of the body to be affected are usually the hands, feet, fingers, and face, but it can also affect other areas like the chest, abdomen, thighs, and lower legs.

Scleroderma Juvenile: This can affect children and teenagers. It can be local or systemic.

Can involve the joints, skin, heart, lungs, gastrointestinal tract (from esophagus to anus), kidneys, bladder, nerves, muscles, blood vessels, joints, etc.

The end results of this form of scleroderma is hardening and fibrosis of the organs.

There are 2 major recognized patterns of systemic sclerosis – diffuse or limited disease.

Diffuse scleroderma: 
Skin thickening occurs rapidly and affects more skin than limited disease.

Have a higher risk of involving the internal organs than limited scleroderma patients

Limited Scleroderma: 
About two thirds of people diagnosed with scleroderma skin thickening is less widespread (face, distal arms, hands, legs and feet).
Although internal organs are involved, they are less frequent and tended to be less severe than diffuse scleroderma.
Can develop pulmonary hypertension, and it is more frequent but usually occurs later than in diffuse scleroderma.

The symptoms of scleroderma vary greatly from person to person and most people with scleroderma do not develop all the symptoms and signs of the illness.

Symptoms of scleroderma may be obvious, such as when the skin is involved, or may be invisible, such as when the lungs or other internal organs are involved.

Treatment: may vary from skin creams to physical therapy to immunosuppressive therapies or other medications.

Raynaud’s phenomenon results from constriction of the blood vessels so the fingers/toes, etc. become white (blood vessel constriction), then blue (loss of oxygen) than red (reflex opening).

• Raynaud’s phenomenon, including fingers, toes, etc. is present at one time or another in about 90 – 95% of patients.
• It occurs in response to cold or emotions.
• It may be associated with numbness or tingling.
• Raynaud’s phenomenon can occur in patients without scleroderma, including lupus, rheumatoid arthritis and other autoimmune diseases. 
• In addition, about 50% of people have Raynaud’s phenomenon without any other illness, when it is called Raynaud’s disease.

Treatment includes lifestyle changes, biofeedback, and medications. 

Skin thickening:

• Inflammation and fibrosis of the skin can lead to the “hard skin” from which scleroderma gets its name.
• The skin may be swollen, thick/hard or just “stuck down" (tethered).
• Hair loss may occur in areas of hard skin.
• The skin thickening tends to progress from hands to shoulders and then trunk.
• In limited disease, it does not reach the upper arms, trunk, abdomen, thighs or back.
• It can cause itching, darkening skin, swelling, difficulty moving and weakness.

Ulcerations/Sores:

• Skin sores are common in systemic sclerosis. They may be slow or difficult to heal.
• Skin sores may develop on the knuckles, elbows, toes or other sites.
• These ulcerations can be very painful.
• When Raynaud’s phenomenon is prolonged, it may result in ulcers, gangrene, infections, and amputations

Calcinosis (calcium deposits):

• Calcinosis deposits may occur in or under the skin and be felt as hard lumps which may be painful. 
• Ulcerations can leak pasty white material or stone like particles (the calcinosis) and they tend to recur.

Telangiectasia: 

• These are dilated small blood vessels near the surface of the skin, which become visible as small red spots.
• They are usually on the fingers, palms, face and lips.
• They may occur when the skin is no longer actively inflamed.
• They are not usually harmful, although they may bleed.
• If they occur in the gastrointestinal tract, they may bleed more profusely and cause anemia.

Treatment for skin involvement includes lifestyle changes, biofeedback and medications. 

Swelling or puffiness of the hands is a typical symptom of scleroderma and often occurs early in the disease.

• The skin of the fingers may look and feel swollen and tight, so making a fist may be difficult.
• Pain, swelling and stiffness of the joints.
• Any joint may be involved.
• Muscle pain and weakness symptoms and may be from inflamed muscles or not. 

Treatment includes rest, physical therapy, medications, including pain medicines, anti-inflammatory medicines and immunosuppressives. 
 

Both inflammation and fibrosis may affect any lung tissue including the lung lining (pleura), lung tissue itself and blood vessels. This interferes with transfer of oxygen from the air into the blood vessels.

Symptoms of lung involvement include shortness of breath, difficulty exercising and functioning, and cough.

Pulmonary fibrosis:

• Interstitial lung disease (ILD) occurs from a buildup of fibrosis/scar tissue in the lung.

Since reversing lung damage is uncommon (although stabilizing the lung is possible), it is important to try to prevent damage by treating early.

Treatment includes stopping smoking, limiting air pollutants if possible, physical therapy, immunosuppressive and anti-fibrotic therapy, oxygen, and, if necessary, transplantation. 

Pulmonary hypertension (PAH) is increased blood pressure in the blood vessels of the lung. If due to blood vessel narrowing it is called pulmonary arterial hypertension (PAH).

When PAH occurs, it causes back pressure on the heart and can cause heart failure.

Treatment includes medications, oxygen and, rarely, lung transplantation

Heart involvement may have symptoms like palpitations and fluid on the legs. This can occur in up to 30 – 40% of patients, although heart involvement rarely causes severe symptoms.

• If the heart becomes fibrosed and scarred, heart beats may weaken and heart failure may occur.
• If coronary artery spasms (like Raynaud’s phenomenon in the heart) occur, there may be chest pain, irregular heart rhythms and even a heart attack, though rarely. 
• Inflammation of the outer heart lining (pericarditis) can cause pain, shortness of breath and irregular heart rhythms.

Treatment includes diet, exercise, lifestyle changes, medications, use of a pacemaker and rarely cardiac transplant. 

Kidney involvement in scleroderma may be quite mild or very serious. Early signs include mild high blood pressure and blood test abnormalities which may not progress.

Renal crisis, a very dangerous problem in systemic sclerosis, results from rapid blood vessel damage in the kidneys.

• High blood pressure is an important early warning sign.
• Headache, disturbed vision, shortness of breath, stroke, cardiac disturbances (see above) or mental confusion may occur.
• In renal crisis, kidney failure may occur in days.
• Rapid and aggressive treatment to bring the blood pressure down rapidly is essential.
• Good or complete recovery is possible, but only with early and aggressive treatment.

Treatment includes rapid control of blood pressure with medications, dialysis or transplant. 

People with systemic sclerosis may develop problems in the gastrointestinal tract (GIT) from mouth to anus. Probably resulting from blood vessel damage, fibrosis can develop in the gastrointestinal muscles usually progressing from the esophagus to the anus.

These changes result in abnormal movement of the GIT and food and nutrients are not well absorbed.

People with scleroderma may note tightening of the skin over the face.

• The tightening and fibrosis that affect the face may also affect the tendons and muscles of the jaw.
• The opening of the mouth may decrease, with thinning of the lips and difficulty with dental hygiene.
• The salivary glands may become fibrosed/scarred, leaving a dry mouth, difficulty swallowing, and tooth decay and loss.

Treatment includes early and frequent dental consultations, treatment for dry eyes and dry mouth, flossing, etc. 

Food travels from the mouth into the stomach through a muscular tube called the esophagus.

• Normally the lower esophageal sphincter or valve is a gate preventing stomach contents from splashing into the esophagus. It also opens to allow food from the esophagus into the stomach.
• When the esophageal muscles and sphincter do not work, acid can splash up into the esophagus, causing heartburn, difficulty swallowing and allowing acid to get into the lung, damaging it.
• These need treatment and many treatments are available.

Treatments include lifestyle changes (eating smaller, more frequent meals, eating early), elevating the head of the bed and medications.

The muscles of the stomach can scar, resulting in poor stomach emptying and feeling full more quickly than usual. Blood vessels may become prominent in the stomach and bleed, leading to anemia. Stomach symptoms may include pain, fullness, nausea, vomiting, fatigue (from anemia).

Treatments include lifestyle changes are as for the esophagus and medications.
 

Small bowel:

• The muscles of the small bowel can be fibrosed/scar, leading to disordered movement and not pushing food through.
• This scarring can lead to germ (bacterial) overgrowth with diarrhea, bloating, nausea, vomiting, pain, weight loss.
• If severe, the bowel can become obstructed, causing pain and requiring hospitalization.

Treatments include diet changes, supplements medications and antibiotics and, very rarely, total parenteral nutrition.

Large bowel, rectum and anus:

• Fibrosis or scarring of the muscles in the rectum, or anus may prevent normal food movement and get in the way of normal bowel movements.  
• Fibrosis/scarring can result in constipation, pain, what is called “paradoxical diarrhea, bloating, nausea and even vomiting.

Treatment of the large bowel, rectum and anus may require changes in diet, supplements, medication, and may, in rare instances, require colostomy.
 

Over 20% of systemic sclerosis patients have dry eyes secondary to fibrosis and scarring of the tear glands of the eyes.

• The dryness associated with this can lead to irritation, burning, and blurred vision.

Treatment includes minor surgery, liquid eye drops and medications. 

Living with scleroderma can lead to Anxiety and depression.

• Some people experience chronic fatigue and “brain fog”.
• Patient and family education can relieve anxiety and depression as well as increasing coping skills.
• Patients can live well with scleroderma.

The following tests are done to confirm the diagnosis and tell you the type of scleroderma you have, and what parts of your body and to what degree your body is involved by your scleroderma. 

• Tests help you and your doctor learn what to expect and what to do about your disease.  You will need other tests at regular clinic visits. 
• Tests help you and your physician monitor your disease activity, talk about how the treatment is working and keep you safe.

Autoimmune tests:

Antinuclear antibody tests (ANA): 
Will tell whether the immune system is overactive or not. The ANA is not specific for scleroderma, although it is present in 90% of patients who have scleroderma.

Scleroderma specific autoantibodies: 
Tests in the blood have many names, including SCL 70, anticentromere, RNA P3 and others. These test help tell you and your doctor what can be expected.

Routine clinical tests: 
These are blood tests to examine for anemia, protective cells, liver, kidney, etc. both for safety and disease activity.

Nail fold Capillaroscopy: 
This is a painless, simple examination using a magnifying glass/microscope to examine the smallest blood vessels at the base of your fingernails. It helps understand what to expect.

Skin biopsy: 
This is a small biopsy (usually less than a pencil diameter in size) to examine the type of disease you may have and the disease activity of your skin, as well as to help understand the cause(s) of scleroderma in ongoing studies.

Modified Rodnan Skin Score: 
This tests the thickness of your skin by having your doctor palpate in 17 areas. It is then added up and can often tell how you are doing. Ultrasound is also sometimes used to measure the skin.

Pulmonary (lung) function tests: 
These are breathing tests to examine your lung function.

6-minute walking test: 
This is a test of walking for 6 minutes to see how far you can walk and examines the oxygen in your blood using a painless technique called oximetry. This test also measures how breathless you become when walking.

High-resolution CT scan (HRCT) of the lungs: 
A fancy form of imaging like x-rays that gives a detailed picture of the anatomy of the lungs. By today’s techniques it takes slightly more radiation than a chest x-ray and is much preferred.

Echocardiogram: 
This test bounces sound waves of your heart (like sonar) to give a picture of the anatomy and function the of heart.

Right heart catheterization: 
In this test a very small flexible tube (the size of the ballpoint refill) is passed through your vessels and heart into the blood vessels of the lung. It is an outpatient procedure taking about an hour and tells about how the heart is functioning and whether there is pulmonary hypertension.

Upper G.I. endoscopy: 
Under anesthesia, a flexible tube is passed down your throat and esophagus to look at your esophagus and stomach.

Colonoscopy: 
Under anesthesia, a flexible a tube is passed into your lower G.I. tract (colon) to examine the rectum and colon.
24-hour esophageal pH test: an outpatient test to examine the acidity of your esophagus and stomach. It requires wearing a nasogastric tube.

Motility testing: 
Various tests using either very small amount of radiation or radio waves (like sonar) to measure how your G.I. tract moves and works.

Hydrogen and methane breath tests: 
An outpatient test where you take some radio labeled food and see how much of the radio label you breathe out. It is to test for overgrowth of bacteria and usually takes 2 to 4 hours.
 

Scleroderma is a complex autoimmune disease that requires careful management by a team of knowledgeable healthcare professionals and specialists. Early diagnosis and treatment can help pain management and possibly prevent organ damage, and improve quality of life for individuals with this condition.