Format

Send to

Choose Destination
See comment in PubMed Commons below
Dtsch Med Wochenschr. 2012 Jul;137(27):1406. doi: 10.1055/s-0032-1305085. Epub 2012 Jun 28.

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

[Article in German]

Author information

1
Medizinische Klinik, Innere Medizin I, Universitätsklinikum Tübingen. josef.leibold@med.uni-tuebingen.de

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.

PMID:
22744870
DOI:
10.1055/s-0032-1305085
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Georg Thieme Verlag Stuttgart, New York
    Loading ...
    Support Center