Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension
Autor: | N Sommer, F Droege, KE Gamen, U Geisthoff, H Gall, K Tello, MJ Richter, LM Deubner, R Schmiedel, M Hecker, E Spiekerkoetter, K Wirsching, W Seeger, HA Ghofrani, S Pullamsetti |
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Jazyk: | angličtina |
Rok vydání: | 2018 |
Předmět: | |
Zdroj: | Pulmonary Circulation, Vol 9 (2018) |
Druh dokumentu: | article |
ISSN: | 2045-8940 20458940 |
DOI: | 10.1177/2045894018805406 |
Popis: | 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. |
Databáze: | Directory of Open Access Journals |
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