[Pulmonary hypertension in hereditary haemorrhagic teleangiectasia].
BACKGROUND
In hereditary haemorrhagic teleangiectasia (HHT) can be accompanied by pulmonary arteriovenous vascular malformations (PAVM). Pulmonary hypertension (PH) is regarded as a rare pulmonary manifestation.


METHODS
We non-invasively assessed the pulmonary circulation in 20 patients with HHT using standard resting echocardiography including contrast studies. In 14 patients a mutation in the endoglin gene was present. The other 6 patients carried a mutation in the Alk-1 gene.


RESULTS
We identified 4 patients with manifest PH, among them 2 patients (both with endoglin mutations) with concurrent thromboembolism, and 2 patients (both with Alk-1 mutations) with hepatic manifestations of HHT. Two patients required specific pulmonary vasoactive therapy with sildenafil and bosentan, respectively. Another patient received embolisation therapy for hypercirculatory PH due to hepatic arteriovenous malformations. Pulmonary arteriovenous malformations were found in 8 patients (7 with endoglin, and 1 with Alk-1 mutations), among them were 2 patients with PH.


CONCLUSIONS
Patients with HHT should undergo echocardiographic screening for PAVM as well as PH. When PH is detected, other conditions such as hepatic or thromboembolic diseases should be considered, regardless of the underlying genetic defect.
Lungenzentrum, Medizinische Klinik II, Universitätsklinikum Giessen und Marburg, Standort Giessen. Frank.Reichenberger@innere.med.uni-giessen.de
F
F
Reichenberger
L-E
LE
Wehner
A
A
Breithecker
R
R
Voswinckel
O
O
Mensch
R
R
Schulz
H A
HA
Ghofrani
D030301:Activin Receptors, Type II / Q000235:genetics*; D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000235:genetics*; D000071063:Endoglin; D005260:Female; D006579:Heterozygote; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011956:Receptors, Cell Surface / Q000235:genetics*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II