Ehlers Danlos Syndrome part 1
Heritable Disorders of Connective Tissue (HDCT) is defined by the conglomeration of generalized Joint Hypermobility (JHM), widespread fatigue, joint instability including recurrent subluxations and dislocations, musculoskeletal pain, chronic arthralgia, abnormal stature, early onset osteoarthritis, easy fragile fractures, cardiovascular, autonomic, ocular, dental, visceral, auditory, skin, ligament, tendon abnormalities (12, Castori, 13, Hakim).
Heritable Disorders of Connective Tissue (HDCT) consists of Ehlers Danlos Syndrome, Marfan’s syndrome, Osteogenesis Imperfecta, Stickler Syndrome, Loeys-Dietz syndrome and other connective tissue disorder. Of these Ehlers Danlos Syndrome is the most common. This paper will focus on the co-morbidities associated with Ehlers Danlos Syndrome.
Ehlers Danlos Syndrome is caused by mutations in the COL1A2, COL5A1, COL3A1, COL5A2, PLOD1, ADAMTS2, TNXB genes (14, Uitto). Structure and strength of connective issue depend on the collagen makeup of the tissue. In Ehlers Danlos Syndrome, the genes that provide instruction to collagen are mutated. Mutation in the genes in Ehlers Danlos Syndrome alters the production, processing, and structure of collagen which leads to weakened connective tissue. Altered collagen fibers in the expressing tissues and differential expression of the various affected collagen subtypes in the tissues are the major determinants for clinical distinction among Ehlers Danlos Syndrome variants (12, Castori). Ehlers Danlos Syndrome is considered an autosomal dominant trait, although it presents more commonly in females and is more often transmitted by the mother.
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