Which inherited connective-tissue abnormalities cause vascular hemostatic disorders?

Updated: Oct 06, 2020
  • Author: Irene S Pakos, DO; Chief Editor: Perumal Thiagarajan, MD  more...
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A third group of vascular hemostatic disorders includes those associated with hereditable connective-tissue abnormalities and/or vascular malformations. [51] These disorders are considered hemostatic, in part because of their predilection for bleeding or thrombosis and for the development of consumptive coagulopathies after either hemorrhage or excision. [52]

Two inherited connective-tissue disorders have major cardiovascular complications: Marfan syndrome and Ehlers-Danlos syndrome type IV. [53]

Marfan syndrome results from mutations in the FBN1 gene, which encodes fibrillin-1, an extracellular matrix component found in structures called microfibrils. Ehlers-Danlos syndrome type IV results from mutations in the COL3A1 gene, which encodes the polypeptides in type III collagen.

Marfan syndrome remains primarily a clinical diagnosis. Biochemical analysis of the amount of type III collagen produced by dermal fibroblasts has proven to be a powerful diagnostic test for Ehlers-Danlos syndrome type IV. The most common manifestations of Ehlers-Danlos syndrome are hyperextensible skin and joints, skin fragility, and reduced wound-healing capability. Collagen disorders are associated with congenital intracranial aneurysms, accounting for approximately 5% of these cases. [54] Patients with Ehlers-Danlos syndrome may present with sudden, massive gastrointestinal hemorrhage. [55]

Freeman and colleagues reported 95 complications from Ehlers-Danlos type IV syndrome.Their series included 45 subjects with vascular problems, including 22 with spontaneous intra-abdominal hemorrhage. [56] They recommend treatment with nonoperative (ie, angiographic) interventions as a first step, followed by simple vessel ligation.

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