The role of postmortem study in the diagnosis of the cause of death in a young man: a rare case of Ehlers-Danlos syndrome type IV

Abstract

Diagnosis of the cause of death in young people is a challenge to both the clinician and the pathologist. Ehlers-Danlos syndrome (EDS) type IV is an inherited connective tissue disorder. It is characterised by thin translucent skin, abnormal fragility of blood vessels, and a typical facial appearance. The cause of death is usually due to large arterial rupture. We describe an unusual case of a 23-year-old man clinically diagnosed with myocarditis, who suffered from recurrent pulmonary haemorrhage and died of massive myocardial haemorrhage and ischaemia without coronary artery disease. Diagnosis of EDS type IV was made by autopsy. To our knowledge, this is the first such report in the literature. Delay in diagnosing this syndrome is common even when clinical features are typical, and the condition often goes unrecognised until necropsy. The diagnosis of EDS should be considered in young people who seek medical attention because of arterial rupture.

Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection

“…Limited reports have described complications including pneumothorax, pulmonary hemorrhage, bullae, hemoptysis, and parenchymal cysts (Table 1). 3,6,13 –18 Most of the reported patients with vEDS are male, and they all developed the disease at a young age, mostly before the age of 30. Lung biopsy findings include alveolar hemorrhage, hemosiderosis, nodules, fibrous cyst, and bullae.…”

Fulminant myocardial bleeding: another clinical course of vascular Ehlers-Danlos Syndrome

“…To the best of our knowledge, only one fatal case of myocardial bleeding due to vascular Ehlers-Danlos Syndrome (vEDS) has been reported in the literature. 1 However, because it was a postmortem case, the clinical course of vEDS remained unknown.…”