arGentis
Pharmaceuticals, LLC

Aut​oImmune Disease Treatments

​Scleroderma (SSc)


Scleroderma is a complex and deadly autoimmune disease that attacks the naturally incurring type 1 collagen in the body.  Collagen build up results in widespread connective tissue fibrosis and vascular injury leading to organ system failures.

Facts about Scleroderma

  • ​​​Overall prevalence in adults is about 276 per 1 million.
  • The median survival rate from diagnosis is 11 years.
  • 50% of patients die within 5 years of the onset of the disease without treatment.

Early symptoms

  • Skin – hardening and tightening of patches of skin.
  • Fingers and toes – Exaggerated response to cold temperatures or emotional distress, which can cause changes in the fingers or toes.
  • Digestive system – Problems absorbing nutrients.
  • Internal organs – Affects the function of the heart, lungs, or kidneys.

 

Diffuse Systemic Scleroderma (dSSc)

DSSc is the most serious of the types of Scleroderma and always leads to some internal organ involvement.  It is a rare disease with a relative poor prognosis.  Women are 4 to 5 times more likely than men to develop dSSc. 

 

Characteristics

  • Vascular damage occurs with most of the damage at the level of cutaneous circulation and in the microvasculature of various internal

organs.

  • Small arteries and capillaries compact causing circulation problems.
  • Swollen fingers and hands are followed by the development of firm, thickened skin over the extremities, trunk, and face.  
  • Patients often have shortness of breath, fatigue, chest pain, and possible warning signs of pulmonary arterial hypertension, and often develop interstitial lung disease.
  • Patients are at risk of developing rapidly progressive skin fibrosis and widespread, severe, internal organ involvement.
  • Patients are at a greater risk for clinically significant major organ dysfunction such as:

                        Lung disease

                        Renal failure

                        Diffuse gastrointestinal disease

                        Myocardial involvement

  • Renal crisis characterized is by the development of severe hypertension and renal failure may occur.
  • Patients may experience esophageal disease which results in reflux esophagitis, esophageal strictures, and the eventual development of an atonic esophagus.
  • Small intestinal motility resulting in constipation, malabsorption, and bacterial overgrowth causing episodes of diarrhea can occur.
  • Myocardial fibrosis may develop resulting in cardiac failure, arrhythmias, and conduction defects.
  • Musculoskeletal involvement is common and can manifest as nonspecific mayalgias and arthralgias.

 

Progressive pulmonary fibrosis, pulmonary hypertension, severe gastrointestinal involvement, and scleroderma heart disease are the main causes of death.  Mortality rates are 5 to 8 times greater than the general population.