Case ReportRespiratory complications of Ehlers–Danlos syndrome type IV
Introduction
Ehlers–Danlos syndrome (EDS) is a group of inherited disorders involving abnormal production or secretion of collagen. EDS has three major clinical manifestations: hyperextensibility of the skin, hypermobility of the joints, and a bleeding tendency. EDS is classified into six types: classical, hypermobile, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis [1]. EDS was originally reported to have an incidence rate of 1 in 150,000 individuals [2]. However, with the discovery of additional subtypes or variants of EDS, the frequency has now been reported to be 1 in 5000–10,000 [3]. Type IV is one of the rarest and clinically most serious EDS variants, because it is the only form of the disease with lethal complications. EDS type IV is characterized by thin transparent skin, easy bruising, and rupture of large arteries as well as bowel rupture, followed by death, which usually occurs in patients’ second decade of life [4], [5], [6], [7], [8].
Because patients with EDS mimic signs of abusive injuries and/or present with sudden infant death, forensic pathologists must be aware of this rare, autosomal-dominant connective tissue disorder.
Here, we describe the case of a male in early half in his twenties with EDS, who died suddenly while expectorating blood. We concluded that the decedent had EDS type IV.
Section snippets
Case history
A male in early half in his twenties experienced a severe cough and sneezing with repeated hemoptysis in the morning in his own room. His younger brother, who was in a nearby room, took notice of the strange circumstances and found his older brother in an unconscious state. The patient was brought to the emergency department by paramedics who responded to an emergency call for unresponsiveness. The patient arrived in a state of cardiopulmonary arrest, and despite medical treatment, he could not
Discussion
The sudden death of the decedent as well as his family and clinical history, including repeated hemoptysis, skin laxity, and joint hypermobility, strongly suggested that he had EDS type IV. Furthermore, autopsy findings were consistent with those of patients with EDS type IV as described below.
EDS type IV is inherited in an autosomal-dominant fashion. The disorder is caused by a mutation of the Col 3A1 gene, which results in abnormal type III collagen synthesis [9], [10], [11]. Thus, because of
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