Heritable Connective Tissue Diseases (HCTDs)

Heritable Connective Tissue Diseases (HCTDs)

Heritable Connective Tissue Diseases are a heterogenous group of disorders that result from genetic defects that alter the quantity or structure of ECM proteins including collagens, fibrillins, elastin, and noncollagenous matrix proteins (tenascin, fibronectin, proteoglycans in the interstitial space and integrins on cell surfaces). Depending on the ECM protein involved, one can predict which tissues are most likely to be affected including bone, cartilage, tendon, ligament, muscle, skin, eye, heart valves, blood vessels, and lung. There are over 450 well-characterized diseases. Although each is relatively rare, as a group they affect 1 in 5000 individuals. This chapter will discuss only the most common of these disorders.

1. Osteogenesis imperfecta (OI) is a genetic defect of collagen type I causing “brittle bones,” blue sclera, and abnormal teeth.

2. Ehlers–Danlos syndromes (EDS) are caused by multiple genetic defects of extracellular matrix (ECM) proteins causing joint hypermobility, skin hyperextensibility, and tissue fragility.

3. Marfan syndrome (MFS) is a genetic defect of fibrillin-1, leading to marfanoid habitus, aortic root dilatation, and an ectopic lens.

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