Systemic scleroderma is also referred to as progressive systemic sclerosis or CREST syndrome, although the latter is a less severe form of the condition. Systemic sclerosis is an autoimmune disorder characterized by changes in skin texture and appearance due to increased production of collagen. This disorder also affects multiple organs with a wide range of symptoms and severity in patients typically diagnosed between the ages of 30 and 50 years.
Definition & Facts
Systemic scleroderma is usually first noticed as a hardening of the skin, but this incurable condition also affects blood vessels, muscles, digestive organs, heart, lungs, and kidneys. Systemic scleroderma may exist on its own or as part of other autoimmune disorders. It is referred to as a mixed connective tissue disease.
Most of the 100,000 American patients with the systemic condition are women with varying degrees of impact depending upon which systems and organs are involved. Systemic sclerosis is categorized as an autoimmune rheumatic disease; it is not infectious, cancerous, or contagious.
Symptoms & Complaints
- Loss of hair
- Appearance of calcium deposits under the skin, as white lumps
- Dilation of blood vessels under the skin
- Joint pain
- Dry cough
- Shortness of breath
- Swallowing difficulty
- Acid reflux
- Abdominal bloating after eating
- Organs affected by the disorder harden and become fibrous. Functioning of these organs is thus affected.
For most patients, the condition is either diffuse or limited. Diffuse systemic scleroderma is characterized by more rapid skin thickening with more areas of the body involved than limited systemic scleroderma.
This form often affects the skin on the arms, legs and torso. Patients with the diffuse condition are also at greater risk of fibrous hardening of internal organs than those with the limited condition. They also have a higher mortality rate from the disorder than those with limited scleroderma.
About half of systemic scleroderma patients have limited scleroderma, in which skin thickening is usually confined to the face, hands, and fingers. Symptoms of limited scleroderma progress slower than diffuse scleroderma as well. Pulmonary hypertension is frequently a complication for patients with limited scleroderma and more rarely for those with the diffuse condition; it involves the narrowing of blood vessels in the lungs.
Approximately 20 percent of patients develop overlapping systemic scleroderma. These patients experience symptoms of both limited and diffuse versions. A rare few patients develop systemic sclerosis sine scleroderma, as part of which there is no skin involvement and only the internal organs are affected.
Systemic scleroderma is a direct result of the body's overproduction of collagen, the primary structural protein that makes up tissues. The excess collagen builds up within tissues, causing the hardening that characterizes the condition. This disorder is an autoimmune condition with precise origins not yet identified by researchers.
The condition appears to have genetic factors but does not appear to run in families. It is believed that individuals who are genetically susceptible to the condition may develop it when triggered by pesticides, epoxy resins, silica, dyes, or solvents in the environment. Some researches believe systemic scleroderma is triggered by other diseases such as hepatitis B, cytomegalovirus (CMV) infection, toxoplasma gondii, parvovirus B19, chlamydia, Helicobacter pylori infection, or Epstein-Barr virus.
Drugs believed to be involved in the condition's triggering include cocaine, bleomycin, vitamin K, pentazocine, and penicillamine. Radiation therapy, physical trauma, and vitamin D deficiency are also noted as possible triggers.
Diagnosis & Tests
Diagnosis of systemic scleroderma usually begins with noticeable skin thickening. Patients typically first involve their primary care physician, who will review medical history, check joints and tendons, and examine affected areas of skin.
The primary practitioner may refer the patient to an internal medicine or rheumatology practice. Blood tests are most often ordered by one or more of these doctors who may initially suspect rheumatoid arthritis or lupus. Blood levels in tested patients will show abnormally high amounts of antibodies.
Other tests will include urinalysis, biopsy or tissue sampling of affected skin, computed tomography (CT) scan of lungs and echocardiogram of the heart. A laboratory will examine sampled tissue for abnormalities. Diagnosis is most often reached through these tests and presentation of symptoms.
Treatment & Therapy
There is not presently a cure for systemic scleroderma, but treatment can help relieve symptoms and slow the progression of the disease. Associated skin changes often fade away on their own after three to five years, but effects on internal organs usually only worsen over time. Treatment is individualized according to the symptoms and complications each patient experiences. Some treatments may include:
- Nonsteroidal anti-inflammatory drugs
- Blood pressure medication
- Medication to help with breathing
- Physical therapy
- Phototherapy such as UV-A1 light therapy
- Nitroglycerin ointment for treatment of skin tightening on localized areas of the body
Prevention & Prophylaxis