Open AccessVASCULAR EHLERS-DANLOS SYNDROME IN A 38-YEAR-OLD WOMAN
Author(s) -
E. G. Malayeva,
Е. Э. Карпенко,
Е. В. Цитко
Publication year - 2018
Publication title -
problemy zdorovʹâ i èkologii
Language(s) - English
Resource type - Journals
eISSN - 2708-6011
pISSN - 2220-0967
DOI - 10.51523/2708-6011.2018-15-1-20
Subject(s) - ehlers–danlos syndrome , procollagen peptidase , connective tissue disorder , medicine , connective tissue , gene , connective tissue disease , disease , pathology , genetics , dermatology , biology , autoimmune disease
Vascular Ehlers-Danlos syndrome is a rare inherited autosomal dominant disorder of connective tissue caused by a mutation in the procollagen III gene (COL3A1 gene). Among all the types of the disease the vascular type involves ~5-10% of cases. The diagnosis is based on clinical criteria and mutations in the COL3A1 gene. The treatment of Ehlers-Danlos syndrome is symptomatic, there is no specific treatment.