Vascular Ehlers-Danlos Syndrome Diagnosed in a Patient Initi
Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder that is caused by defects in collagen, other extracellular matrix proteins, or associated enzymes. Vascular EDS (vEDS) is the most severe subtype in terms of clinical manifestation and mortality and is caused by a mutation of the COL3A1 gene encoding collagen type III alpha 1 chain. we describe a clinical history ending with a vEDS diagnosis and a practical approach to vEDS complicated by end-stage kidney disease (ESKD).

A 25-year old male was referred with ESKD of unknown etiology (renal biopsy was not performed) with a serum creatinine level of 5.6 mg/dL (estimated GFR of 11.7 ml/min/1.73 m2), requiring initiating of renal replacement therapy (RRT). The patient chose to undergo haemodialysis. His past medical history was significant for diabetes, dyslipidemia, hypersensitivity pneumonitis, a benign skull base tumor, and congestive heart failure for which he was hospitalized twice in the past year.

To initiate HD, vascular access surgery was scheduled. An artery-venous fistula (AVF) is known to sometimes exacerbate heart failure due to the marked hemodynamic changes related to a large increase in blood flow, although its impact on cardiovascular mortality remains unknown.

Read more: https://www.kireports.org/article/S2468-0249(19)31441-X/fulltext?rss=yes
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