Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension

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 telang...

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Bibliographic Details
Published in:	Pulmonary circulation Vol. 9; no. 2; pp. 1 - 3
Main Authors:	Sommer, N, Droege, F, Gamen, KE, Geisthoff, U, Gall, H, Tello, K, Richter, MJ, Deubner, LM, Schmiedel, R, Hecker, M, Spiekerkoetter, E, Wirsching, K, Seeger, W, Ghofrani, HA, Pullamsetti, S
Format:	Journal Article
Language:	English
Published:	London, England SAGE Publications 01-04-2019 John Wiley & Sons, Inc Wiley
Subjects:	ALK‐1 mutation Case Report FK506 Morbus Osler Mutation Pulmonary hypertension tacrolimus VEGF Morbus Osler FK506 tacrolimus VEGF ALK-1 mutation
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Summary:	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.
Bibliography:	equal contribution ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	2045-8940 2045-8932 2045-8940
DOI:	10.1177/2045894018805406