Late Onset Pulmonary Arterial Hypertension Associated With Features of Pulmonary Veno-Occlusive Disease and Rare Heterozygous Variants of KDR and EIF2AK4

Vasile Foris, Luka Brcic, Peter Dorfmüller, Christina A. Eichstaedt, Ekkehard Grünig, Philipp Douschan, Teresa John, Katarina Zeder, Michael Fuchsjäger, Nikolaus Kneidinger, Gabor Kovacs, Horst Olschewski

https://doi.org/10.1002/pul2.70179

Abstract

The natural history of late-onset pulmonary arterial hypertension (PAH) with features of venous/capillary involvement and the associations with rare variants in PAH genes are not well known. We report a case of a female patient who developed severe PAH at the age of 70. Two years before, lung histology was obtained showing features of pulmonary veno-occlusive disease. Genetic testing revealed that the patient was harbouring two rare genetic variants in the KDR and EIF2AK4 genes. She received a triple combination therapy alongside diuretics and survived remarkable 8 years after the PAH diagnosis.

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