[42-year-old patient with portal hypertension - case 6/2012].

Abstract

HISTORY AND ADMISSION FINDINGS:

A 42-year-old woman was referred with a bleeding in the upper gastrointestinal tract, varices in the fundus of the stomach and portal hypertension of unknown primary.

INVESTIGATIONS:

Ultrasound examinations showed splenomegaly as well as portal hypertension. Blood examinations revealed low levels of haemoglobin. CT imaging showed multiple arteriovenous malformations with arterioportal shunts within the liver which led to a volume-induced portal hypertension. The genetic analysis revealed no mutations in the activin receptor-like kinase (ALK) 1 or endoglin genes.

DIAGNOSIS, TREATMENT AND COURSE:

The patient was clinically diagnosed with hereditary hemorrhagic teleangiectasia, also known as Osler-Weber-Rendu disease. Because of the multiple arterioportal shunts within the liver and the resulting portal hypertension with live-threatening gastrointestinal bleeding, the only therapeutic option for the patient is liver transplantation. Therefore, an application for a standard exception was made at Eurotransplant and the patient is going to be liver transplantated within the next months.

CONCLUSIONS:

Osler-Weber-Rendu disease is an autosomal dominant hereditary disease which leads to arteriovenous malformations and which can affect different organ systems. The course of the disease can be rather benign, but it can also lead to live-threatening complications requiring fast interventions.

• Authors: Josef Leibold, Serkan Karakaya, Birgit Federmann, Michaela Rockenstiehl, Stephan Heller, Judith Feucht, Nisar Malek, Ulrich M Lauer
• Journal: Deutsche medizinische Wochenschrift (1946) (Dtsch Med Wochenschr) Vol. 137 Issue 27 Pg. 1406 (Jul 2012) ISSN: 1439-4413 [Electronic] Germany
• Vernacular Title: 42-jährige Patientin mit portaler Hypertension - Fall 6/2012.
• PMID: 22744870 (Publication Type: Case Reports, English Abstract, Journal Article)
• Copyright: © Georg Thieme Verlag KG Stuttgart · New York.

Topics

• Adult
• Female
• Gastrointestinal Hemorrhage (diagnosis, etiology, surgery)
• Humans
• Hypertension, Portal (diagnosis, etiology, surgery)
• Liver Transplantation
• Telangiectasia, Hereditary Hemorrhagic (complications, diagnosis, surgery)