Diffuse systemic sclerosis is a very rare disease that affects the body’s connective tissues, causing fibrosis (scar tissue) as well as damage to internal organs in its most severe cases when vasomotor complications arise. The disease can be caused by different factors, including environmental conditions, genetics, and the body’s cells attacking themselves making it an autoimmune disorder. A brief list of factors that can predispose a patient to the condition include:

• Exposure to pesticides

• Injury to the limbs, hands, or feet

• Certain medications, such as vitamin K, carbidopa, and others

• Appetite suppressants

• Some types of cosmetic procedures

Who Gets Diffuse Systemic Sclerosis

There are more reported cases of females contracting diffuse systemic sclerosis (dSSc) than males. It occurs more often in women age 30 to 40, and males tend to be a bit older than this. There are sporadic cases of dSSc occurring in children and elderly people (Systemic Sclerosis, Robert A. Schwartz, M.D., MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School, eMedicine).

There is no one race that is predominantly predisposed to the disease, although black women tend to have higher reported cases than white females. The disease is especially rare in Asian countries.

The mortality/morbidity rate rises in patients who contract the following disorders due to dSSc. These include:

• Renal changes
• Lung changes
• Pulmonary hypertension
• Heart changes

Diagnosis of Diffuse Systemic Sclerosis

Not every patient develops the same signs and symptoms of the disease. That is why careful physical examination and a detailed history of a patient’s symptoms are so important in properly diagnosing the disease. The signs and symptoms may include, but are not limited to:

• Itchy skin
• Raynaud’s phenomenon
• Fatigue
• High blood pressure
• Chest pains
• Joint pain
• Muscle pain
• Hardening of the skin
• Tightening of the skin
• General feeling of weakness

The fibrosis generally occurs on the face, arms, and neck.

Certain blood tests and imaging studies can help with the diagnosis of the disease. An erythrocyte sedimentation rate will generally be high, as well as high creatinine levels for patients with kidney involvement. Patients with diffuse muscle involvement will usually have a high level of creatine phosphokinase.

X-rays can help identify fibrosis in the lungs, heart, and kidneys. Bone x-rays can reveal the presence of osteopenia, which is common in patients with diffuse systemic sclerosis. Plus there are gastrointestinal procedures to tell if the disease is affecting the GI tract.

Treating Diffuse Systemic Sclerosis

Treating dSSc is tricky, as there are not any permanent treatments available at this time. Therefore, most treatments are aimed at relieving the symptoms that are caused by the disease. Topical creams are often prescribed to help with the itchy skin. Raynaud’s phenomenon can be helped by keeping hands and feet warm. When severe, a vasodilator or calcium channel blocker may be prescribed.

Patients suffering from kidney involvement are often prescribed ACE inhibitors. Prednisone is often prescribed to treat inflammation in the body. Corticosteroids are sometimes used as a treatment as well, especially in the case of inflammation of the muscles (myositis). Treatment really depends on a patient’s presentation and complaints of symptoms, and can vary quite differently in each different case of the disease.

Because dSSc is a rare disease, research is constantly underway to develop better and more consistent treatment options. In fact, many clinical trials are being undertaken for patients who want to participate in research studies (ClinicalTrials.gov, National Institutes of Health).