Article Text

Rare disease
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
  1. Natalia Escribano1,
  2. Ileana Medina1,
  3. Luis Ortega1,
  4. Mª José Jiménez2,
  5. Mª Concepción Millana1,
  6. Roberto Fernández2,
  7. Paloma Aragoncillo1,
  8. Juliana Fariña1
  1. 1Hospital Clínico San Carlos, Pathology, Martín Lagos s/n, Madrid, 28040, Spain
  2. 2Hospital Clínico San Carlos, Intensive Care Medicine, Martín Lagos s/n, Madrid, 28040, Spain
  1. Correspondence to Natalia Escribano, nescriba{at}gmail.com

Summary

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.

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Footnotes

  • Competing interests: None.

  • Patient consent: Patient/guardian consent was obtained for publication.

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