Journalartikel

Jahr der Veröffentlichung: 2018

Zeitschrift: Pulmonary Circulation

Bandnummer: 9

Heftnummer: 2

ISSN: 2045-8932

eISSN: 2045-8940

Open Access Status: Gold

DOI Link: https://doi.org/10.1177/2045894018805406

Verlag: Wiley

Abstract: 
Pulmonary arterial hypertension (PAH) can be found in patients suffering from a loss-of-function mutation of the gene encoding for the activin receptor-like kinase 1 (ALK-1), a bone morphogenetic protein (BMP) type 1 receptor. Interestingly, ALK-1 mutations also lead to hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease characterized by arteriovenous malformations (AVMs) leading to potentially life-threatening bleeding complications such as epistaxis. Current therapeutic options for both diseases are limited and often only temporary or accompanied by severe side effects. Here, we report of a patient with a mutation of the ALK-1 gene suffering from both HHT and PAH. Recently, it was shown that tacrolimus increased ALK-1 signaling and had beneficial effects in selected end-stage PAH patients. We thus hypothesized that treatment with tacrolimus may prevent disease progression in this patient. Surprisingly, treatment with low-dose tacrolimus dramatically improved his HHT-associated epistaxis but did not attenuate progression of PAH.

Harvard-Zitierstil: Sommer, N., Droege, F., Gamen, K., Geisthoff, U., Gall, H., Tello, K., et al. (2018) Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension, Pulmonary Circulation, 9(2), Article 2045894018805406. https://doi.org/10.1177/2045894018805406

APA-Zitierstil: Sommer, N., Droege, F., Gamen, K., Geisthoff, U., Gall, H., Tello, K., Richter, M., Deubner, L., Schmiedel, R., Hecker, M., Spiekerkoetter, E., Wirsching, K., Seeger, W., Ghofrani, H., & Pullamsetti, S. (2018). Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. Pulmonary Circulation. 9(2), Article 2045894018805406. https://doi.org/10.1177/2045894018805406