Journal article

Publication year: 2022

Pages: 217-219

Journal: Lung

Volume number: 200

Issue number: 2

ISSN: 0341-2040

eISSN: 1432-1750

DOI Link: https://doi.org/10.1007/s00408-022-00517-2

Publisher: Springer

Abstract: 
Pulmonary capillary hemangiomatosis (PCH) is an uncommon type of pulmonary vascular disease characterized by capillary proliferation and very poor prognosis owing to misdiagnosis and lack of effective therapeutic options. Mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene have been reported in pulmonary veno-occlusive disease and PCH. In this report, we present a patient whose diagnosis of PCH was delayed by 2 1/2 years despite prior surgical lung biopsy and clinical and laboratory findings suggestive of pulmonary hypertension. Genotyping revealed a novel likely pathogenic variant in the EIF2AK4 gene. Review of surgical lung biopsy performed 2 1/2 years prior confirmed PCH histology along with constrictive bronchiolitis.

Harvard Citation style: Kimmig, L., Stutz, M., Husain, A. and Bag, R. (2022) Identification of a Novel EIF2AK Variant and Genetics-Assisted Approach to Diagnosis of Pulmonary Capillary Hemangiomatosis, Lung, 200(2), pp. 217-219. https://doi.org/10.1007/s00408-022-00517-2

APA Citation style: Kimmig, L., Stutz, M., Husain, A., & Bag, R. (2022). Identification of a Novel EIF2AK Variant and Genetics-Assisted Approach to Diagnosis of Pulmonary Capillary Hemangiomatosis. Lung. 200(2), 217-219. https://doi.org/10.1007/s00408-022-00517-2