DISEASES
description
Scleroderma is a progressive disorder characterized by thickening and tightening of the skin — especially on the arms, face and hands — which results in loss of flexibility. The onset of disease in most patients is the development of Raynaud’s phenomenon, a condition where areas of the body, most notably the fingers and toes, feel numb and cold in response to cold temperatures or stress. In Raynaud’s disease, particularly on exposure to cold, smaller arteries that supply blood to the fingers and toes go into spasm causing a whitening/blanching followed by a cyanotic (bluish) appearance. Not all patients with Raynaud’s progress to develop scleroderma. Because of this and because the other symptoms are seen in a number of other conditions, the diagnosis is remarkably aided by detecting scleroderma-specific autoantibodies (anti-topoisomerase I, anti-centromere, anti-RNA polymerase, anti-fibrillarin) or scleroderma-related autoantibodies (anti-U1-RNP, anti-BICD2, anti-RNPC3).
Symptoms
- Skin hardening and or tightening
- Skin can appear shiny due to tightness
- Restricted movement at the affected area
- Fingers or toes may turn blue or feel painful or numb (Raynaud’s disease – *also occurs in people who don’t have scleroderma)
- Digestive symptoms, depending on which part of the digestive tract is affected (ie esophagus – heartburn or difficulty swallowing, intestines – cramps, bloating, diarrhea or constipation)
- Symptoms relating to heart, lung or kidney
Relevant Dx Tests
- Scleroderma / Systemic Sclerosis Panel
- Nucleolar Autoantibody Panel
- Advanced ANA – Anti‐Cellular Antibodies