Spontaneous rupture of liver in a patient with Ehlers Danlos disease type IV.

Abstract:

:Ehlers-Danlos syndrome (EDS) type IV is an autosomal dominant connective tissue disease caused by mutations in the type III collagen gene resulting in extreme tissue fragility. Affected individuals are at risk of dramatic and often fatal complications, mostly spontaneous arterial, uterine, or colonic ruptures. Phenotypic expression of EDS type IV is variable and clinical signs are generally quite subtle, thus making a prompt diagnosis difficult. The case of a 33-year-old woman is described who presented with a wide range of clinical features and sequelae that eventually led to the diagnosis of EDS type IV. She presented with spontaneous liver rupture, renal infarction, and pneumothorax, all representing rare complications of EDS type IV. Prior history revealed a uterine rupture in advanced pregnancy associated with ischemic necrosis of the descending and sigmoid colon. EDS type IV should be suspected in young individuals who present with such unusual complications. Early diagnosis is essential if severe or even lethal complications are to be avoided in the diagnostic and therapeutic management of such patients.

journal_name

Dig Dis Sci

authors

Gelbmann CM,Köllinger M,Gmeinwieser J,Leser HG,Holstege A,Schölmerich J

doi

10.1023/a:1018869617076

subject

Has Abstract

pub_date

1997-08-01 00:00:00

pages

1724-30

issue

8

eissn

0163-2116

issn

1573-2568

journal_volume

42

pub_type

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