About Scleroderma

Scleroderma is a systemic autoimmune disease where the immune system mistakenly attacks and damages the body.

The cause of scleroderma is not fully understood, but a lot is known.

The disease most often affects people ages 30 to 50 years but it can develop at any age. Women get scleroderma more often than men. 

Scleroderma is a disease of genetic inheritance in many people. However, the genetics are complex. No single gene causes scleroderma. Rather, multiple genes are involved, and many of these genes also increase the risk of developing other autoimmune diseases. This is why with scleroderma it is very rare to have more than one family member affected by scleroderma (<1%), but other family members many have other autoimmune diseases such as lupus, rheumatoid arthritis, multiple sclerosis, or type I diabetes. 

Environmental exposures likely have a role in the development of scleroderma. In a small number of cases, scleroderma is caused by specific environmental triggers like extensive exposure to silca dust or polyvinyl chloride. In the majority of people, there is no single environmental cause. Instead, for many autoimmune diseases including scleroderma, multiple environmental factors influence the immune system over the course of people’s lives, ultimately causing the immune system to attack the body. 

Symptoms

Some types of scleroderma affect only the skin, while others affect the whole body.

  • Localized scleroderma, also called morphea, often affects only the skin on the chest, abdomen, limbs, or scalp but not usually the hands and face. Morphea develops slowly. It is unusual for morphea to spread elsewhere in the body, and it is rare for morphea to invade past the skin and cause internal organ damage.
  • Systemic scleroderma, also called systemic sclerosis, may affect large areas of skin and organs such as the heart, lungs, or kidneys. There are two main types: limited scleroderma (“CREST syndrome”) and diffuse scleroderma. 

Scleroderma affects the body in many ways. In a sense, scleroderma affects the body in three different ways: 

A. Thickening or fibrosis from collagen build-up. Typical manifestations of this include:

  • Skin thickening, especially over the hands and around the mouth. This can limit the use of the fingers and can change a person’s facial appearance.
  • Thickening of the esophagus and intestines. Involvement of the esophagus is very common in scleroderma and interrupts normal peristalsis or contraction of the esophagus. Symptoms of esophageal dysmotility include difficulty swallowing food as well as acid reflux. Infrequently, scleroderma will also affect the intestines, which can cause bloating, constipation, and sometimes diarrhea.

B. Damage to blood vessels and reduction of blood flow. Typical manifestations include:

  • Raynaud’s Phenomenon where the fingers change colors – often pale, purple/blue, and pink or red. Attacks of Raynaud’s often occur with cold exposure and can be painful. Uncommonly, Raynaud’s from scleroderma can cause sores or ulcers in the fingertips.
  • Telangiectasia, which are small, widened blood vessels visible beneath the surface of the skin on the face or hands. 
  • Pulmonary hypertension where the blood pressure in the lungs is too high. This cannot be measured with a blood pressure cuff. Doctors check for pulmonary hypertension with a cardiac echo (ultrasound). This is a serious manifestation of scleroderma that can cause people to feel short of breath and requires treatment.
  • Scleroderma Renal Crisis. This is damage to the blood vessels that deliver blood to the filtering units of the kidneys. This is a rare but very serious manifestation of scleroderma heralded by rapid rise in blood pressure and can lead to kidney failure if not addressed quickly.
  • GAVE Syndrome (Gastric Antral Vascular Ectasia). Blood vessels in the lining of the stomach become widened and can bleed; this can cause anemia.

C. Inflammation from the immune system. Typical manifestations include:

  • Interstitial lung disease, a serious manifestation of scleroderma that can cause shortness of breath and coughing. Over time, inflammation of the lung leads to lung fibrosis.
  • Myositis — inflammation of muscles causing muscle weakness.
  • Arthritis
  • Calcinosis — Small white lumps of calcium beneath the skin that sometimes ooze a white substance that looks like toothpaste. This is thought to be a byproduct of inflammation.

Physical Exams and Tests 

To diagnose scleroderma, doctors need to perform a complete evaluation, including feeling the skin. Scleroderma is NOT diagnosed by a blood test. This is why, at UCSF, we require our initial visits to be in-person. It is very difficult to diagnose scleroderma by video. 

During your visit to UCSF, we will perform a comprehensive physical examination to evaluate for signs of scleroderma and other autoimmune diseases affecting:

  • the skin on your entire body including your hands and face
  • the blood vessels in your fingertips
  • your heart and lungs
  • your abdomen
  • your joints
  • your muscles and nerves

Blood tests to help confirm the diagnosis and evaluate for certain manifestations of the disease:

  • Autoantibodies associated with scleroderma such as centromere, Scl-70, RNA polymerase III, PM-Scl, Fibrillarin, and Th/To.
  • Autoantibodies associated with other related autoimmune conditions such as myositis, lupus (dsDNA, Sm, Sm/RNP), Sjogren Disease (SSA, SSB) and rheumatoid arthritis (RF and CCP)
  • Comprehensive metabolic panel and complete blood counts
  • Erythrocyte Sedimentation Rate (ESR)
  • C-reactive protein
  • Creatine Kinase to measure for muscle damage
  • Brain Natriuretic Peptide (BNP) to evaluate heart function

Other tests may be needed to monitor for involvement of the heart and lungs. Frequently it is important to evaluate for signs of involvement of the esophagus (swallowing tube). Tests frequently obtained:

  • High Resolution Chest CT to evaluate for interstitial lung disease
  • Pulmonary Function Tests (PFT) also known as “breathing tests”
  • Cardiac echocardiogram to evaluate for pulmonary hypertension and heart function
  • Electrocardiogram (ECG)
  • Esophagram to evaluate swallowing and esophageal dysmotility
  • Endoscopy to evaluate the esophagus and stomach including for GAVE syndrome
  • Skin biopsy

Treatments

There is no one treatment for scleroderma. One of the challenges to scleroderma is it affects many parts of the body, so it is like having multiple diseases that each require a unique treatment plan. Your doctor will assess how scleroderma affects your body including the skin, lungs, kidneys, heart, and gastrointestinal tract. Then you, your scleroderma specialist, and doctors from other specialties with expertise in scleroderma will develop a customized treatment plan to control each of your symptoms and prevent further damage from scleroderma.

Some of the problems that your team of doctors will help to treat may include:

  • Interstitial Lung Disease
  • Pulmonary Hypertension
  • Skin Thickening
  • GERD and esophageal dysmotility
  • Intestinal dysmotility and bowel obstruction
  • Raynaud’s Phenomenon, especially with digital ulcers are present
  • Arthritis (Joint inflammation)
  • Myositis (Muscle inflammation)
  • Scleroderma Renal Crisis
  • Pain and fatigue

Resources

A.D.A.M

The following organizations are good resources for information on scleroderma: