Sudden and Unexpected Death in Three Cases of Ehlers‐Danlos Syndrome Type IV*

Abstract

Ehlers-Danlos syndrome (EDS) type IV is a connective tissue disorder characterized by the inability to produce sufficient amounts of collagen or a defect in the structure of collagen. The most serious complications include a rupture of a viscus or vascular rupture with or without mural dissection. Death may result from internal hemorrhage. This report describes three cases of sudden and unexpected death caused by EDS type IV. Two cases involved hemothorax as a result of dissection of the subclavian artery and aorta, respectively. The third case represented spontaneous pulmonary rupture and hemorrhage. A detailed family history should be sought, and additional specimens collected to confirm the diagnosis, including skin fibroblasts for collagen testing and blood for DNA testing. The forensic pathologist should consider the possibility of EDS type IV upon discovery of spontaneous visceral or arterial rupture and should alert the family members of this hereditary and potentially fatal condition.

Vascular, Cardiac Valve, and Metabolic Diseases

“…Thin skin with visible veins • Distinctive facial features • Rupture of vessels and/or viscera • Easy bruising/hematomas • While representing only 4% of the EDS cases, type IV poses the risk of premature death from spontaneous arterial, intestinal, or uterine rupture and may remain undiagnosed until postmortem examination (Shields et al 2010;Prahlow and Wagner 2005;Wimmer et al 1996). The median survival is approximately 48 years (Shields et al 2010).…”

“…The median survival is approximately 48 years (Shields et al 2010). Most deaths are caused by arterial dissection or rupture, involving a thoracic or abdominal vessel; cases with incidental myocardial infarction are rare (Gilchrist and Duflou 2005).…”

Involvement of cardiovascular system in hereditary disorders of connective tissue

“…Danlos (1908 год). Наиболее характерные проявления -это тонкая, полупрозрачная кожа, склонность к кровотечениям, спонтанные разры-вы артерий, кишечника, беременной матки, легких, пневмо-и гемоторакс, нарушенное заживление ран [28]. Другими сосудистыми нарушениями являются варикозное расширение вен, множественные арте-риальные аневризмы преимущественно в артериях среднего калибра (селезеночная, почечные, печеноч-ные, артерии конечностей), тромбоэмболический синдром (тромбоэмболия легочной артерии, инфаркт миокарда и другое).…”

Authors’ Response

“…We thank Dr. De-Giorgio and his colleagues for acknowledging our manuscript entitled ''Sudden and unexpected death in three cases of Ehlers-Danlos syndrome (EDS) type IV,'' by Shields et al (1). We have asked Melanie Pepin, MS, CGC, Genetic Counselor, and Peter H. Byers, MD, Professor of Pathology and Medicine (Medical Genetics) at the Collagen Diagnostic Laboratory, University of Washington, Seattle, WA (http://www.uwcdl.org) for their expert insight to help us to address the issues raised in the Letter to the Editor written by Dr. De-Giorgio and colleagues.…”