Response by Hadinnapola et al to Letter Regarding Article, “Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension”
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We thank Hernandez-Gonzalez et al for their response to our recent article.1 In this study, we demonstrated that the clinical, radiological, and histological features in patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis (PVOD/PCH) (including those carrying biallelic EIF2AK4 mutations) can show significant overlap with those of idiopathic pulmonary arterial hypertension (PAH). In our study, none of the patients found to have a molecular diagnosis (biallelic EIF2AK4 mutations) consistent with PVOD/PCH, but classified by expert clinicians as idiopathic …