Scleroderma – understanding the disease

Scleroderma is an autoimmune disease that causes progressive skin hardening and what’s known as induration. Induration means the process of an increase in the fibrous elements in tissue, usually connected with inflammation and a loss of elasticity and pliability. It is a hardening process. Scleroderma is a part of systemic sclerosis, which means body-wide inside-and-out connective tissue thickening and hardening involving skin, muscles, and internal organs.

Environmental influences and genetics may play a role in scleroderma, but some elements do seem to trigger the disease in susceptible people. These elements include silica exposure, solvent exposure (vinyl chloride, trichloroethylene, epoxy resins, benzene, carbon tetrachloride), and radiation exposure/radiotherapy. Some accelerating viral factors may include cytomegalovirus, human herpesvirus 5, and parvovirus B19, and some drugs may cause similar symptoms.

Scleroderma was discussed as early as Hippocrates’ time (460 BC), and currently it is believed that scleroderma affects between 20 and 300 people per million, and incidence is increasing, particularly over the past 50 years. Researchers aren’t sure if that’s because higher survival rates and accurate diagnosis are now easier to obtain.

Scleroderma affects all types of people, however black people may have more scleroderma (unless this is due to African-American studies, whereby this group tends towards worse health outcomes overall). The people with the most scleroderma are the Oklahoma Choctaw Indians, with 469 cases per 100,000 people. Non-full blood Choctaw people have a 31 in every 100,000, which is 20 times higher than the national average in the United States.

More women than men get scleroderma, but the reasons for this disparity are unclear. The peak age for onset is between 30 and 50, but children have been known to have scleroderma, as have older people.

     Signs and symptoms of scleroderma may affect the: 

  • Skin – tightening, hardening, swelling, puffiness, affects fingers, face, loss of skin creases, sparse hair, joint issues, pigmentation changes, itching
  • Blood vessels/vascular – Raynaud phenomenon, pitted ulcers in fingertips, telangiectasias (spidery clusters of blood vessels), non-atherosclertic heart attack
  • Digestive tract – reflux, hoarseness, trouble swallowing, heartburn, bloating, early satiety, constipation/diarrhoea, bacterial overgrowth, malabsorption, faecal incontinence, malnutrition, iron-deficiency anaemia
  • Respiratory tract – difficulty breathing, chest pain, dry cough
  • Muscles/bones – joint pain, muscle pain, loss of range of motion, joint flexion contractures, tendon friction rubs, carpal tunnel syndrome, weakness
  • Heart – difficulty breathing, fibrosis, palpitations, irregular heartbeat, arrhythmias, conduction abnormalities, congestive heart failure, right-sided heart failure, risk factor for heart attack
  • Kidneys – high blood pressure, kidney crisis, chronic kidney insufficiency, history of high dose corticosteroid use
  • Genitourinary system – erectile dysfunction, bladder fibrosis, dyspareunia (with affected introitus), vaginal narrowing, dryness and pain caused by fibrosis
  • Ears, eyes, nose, throat – Sicca syndrome, bad teeth, loose teeth, hoarseness, vocal cord inflammation, increased risk of tongue cancer, decreased mouth opening size, blindness
  • Endocrine (hormone) system
  • Neurological system – facial pain, decreased sensation, hand paralysis and weakness, headache, stroke
  • Psychological – depression, anxiety
  • Constitutional – fatigue, weight loss, loss of appetite

     How does scleroderma work?
Due to an excess of fibroblasts – collagen-producing cells – there is an excess of collagen and other connective tissue molecules are deposited in skin and internal organs. It affects the whole body via the blood and body fluids. This condition is not inherited, but we may be genetically predisposed to developing scleroderma.

Certain inflammatory events occur within the skin – tiny blood vessel injuries are caused by cell abnormalities. This results in the an increase in microfibroblasts due to other cells changing form, causing the skin issues.

There are several forms that scleroderma can appear in: 

  1. Limited cutaneous systemic sclerosis (limited skin involvement, often elbows, knees, face or neck, CREST syndrome*)
  2. Diffuse cutaneous systemic sclerosis (diffuse skin sclerosis and severe, usually progressive internal organ involvement, skin thickening on the trunk, knees, elbows, face)
  3. Scleroderma sine scleroderma (a rare subset of diffuse cutaneous systemic sclerosis with internal organ involvement without skin symptoms)
  4. Systemic sclerosis (most obvious on the skin, may include the digestive or respiratory tracts; kidneys; cardiovascular, musculoskeletal, endocrine or genitourinary systems)
  5. Fulminant systemic sclerosis (sudden and severe onset involving the whole body)

Skleros = hard, indurated
Derma = skin

     Diagnosing scleroderma
Diagnosis of scleroderma is typically guided by symptoms, however tests may be performed initially to exclude other issues. Testing can also be used to see the extent of internal organ involvement, and to monitor disease progression. Diagnosis can be difficult, and accuracy in diagnosis remains an issue.

     Treating scleroderma
Treatment is directed at management of the disease and symptom relief. Disease-modifying treatment are under investigation, so speak to your specialist about the best treatments for your case.

*CREST syndrome
Calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias, but not all are needed to be called CREST

     Classifications of scleroderma
A scoring system is used to classify scleroderma, which you will need to establish with your doctor.

     Outcomes and prognosis
Those with diffuse cutaneous scleroderma are surviving longer than ever, with the five-year survival rate about 80 per cent. Five-year survival rates in patients with limited cutaneous scleroderma is about 90 per cent. There are worse outcomes for younger people, people of African descent, those in whom the disease appeared and progressed rapidly, those in whom more skin is involved, anyone with anaemia, those with an elevated erythrocyte sedimentation rate (ESR), and anyone whose cardiovascular system or kidneys are involved. The most common cause of death due to systemic sclerosis comes from high blood pressure, lung disease, and kidney failure.

Complications of scleroderma include problems with the skin on the fingers, high blood pressure, muscle inflammation and degeneration, kidney failure and wound infections.

     Getting pregnant with scleroderma
Pregnancy is considered high risk, but it doesn’t mean a pregnancy can’t proceed successfully. There is an increase in the death of the mother during pregnancy in women with cardiovascular symptoms. One study of 50 women with scleroderma found that out of 67 pregnancies, 18 per cent miscarried, 26 had preterm deliveries, and 55 delivered at full term.