Pulmonary Arterial Hypertension as the First Manifestation in a Patient with Hereditary Hemorrhagic Telangiectasia

Tsukasa Ishiwata; Jiro Terada; Nobuhiro Tanabe; Mitsuhiro Abe; Toshihiko Sugiura; Kenji Tsushima; Yuji Tada; Seiichiro Sakao; Yasunori Kasahara; Norifumi Nakanishi; Hiroko Morisaki; Koichiro Tatsumi

doi:10.2169/internalmedicine.53.2850

CASE REPORTS

Pulmonary Arterial Hypertension as the First Manifestation in a Patient with Hereditary Hemorrhagic Telangiectasia

Tsukasa Ishiwata, Jiro Terada, Nobuhiro Tanabe, Mitsuhiro Abe, Toshihiko Sugiura, Kenji Tsushima, Yuji Tada, Seiichiro Sakao, Yasunori Kasahara, Norifumi Nakanishi, Hiroko Morisaki, Koichiro Tatsumi

Author information

Tsukasa Ishiwata
Department of Respirology, Graduate School of Medicine, Chiba University, Japan
Jiro Terada
Department of Respirology, Graduate School of Medicine, Chiba University, Japan
Nobuhiro Tanabe
Department of Respirology, Graduate School of Medicine, Chiba University, Japan
Mitsuhiro Abe
Department of Respirology, Graduate School of Medicine, Chiba University, Japan
Toshihiko Sugiura
Department of Respirology, Graduate School of Medicine, Chiba University, Japan
Kenji Tsushima
Department of Respirology, Graduate School of Medicine, Chiba University, Japan
Yuji Tada
Department of Respirology, Graduate School of Medicine, Chiba University, Japan
Seiichiro Sakao
Department of Respirology, Graduate School of Medicine, Chiba University, Japan
Yasunori Kasahara
Department of Respirology, Graduate School of Medicine, Chiba University, Japan
Norifumi Nakanishi
Division of Pulmonary Circulation, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Japan
Hiroko Morisaki
Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Japan
Koichiro Tatsumi
Department of Respirology, Graduate School of Medicine, Chiba University, Japan

Keywords: hereditary hemorrhagic telangiectasia (HHT), pulmonary arterial hypertension (PAH), activin receptor-like kinase 1 (ACVRL1), ALK1, epistaxis

JOURNAL OPEN ACCESS

2014 Volume 53 Issue 20 Pages 2359-2363

DOI https://doi.org/10.2169/internalmedicine.53.2850

Details

Abstract

A 17-year-old Japanese girl visited our hospital for an evaluation of exertional dyspnea. A diagnosis of pulmonary arterial hypertension (PAH) was confirmed based on the findings of right heart catheterization. Detailed questioning revealed a family history of hereditary hemorrhagic telangiectasia (HHT), and a genetic mutation analysis disclosed a mutation in the activin receptor-like kinase 1 gene (ACVRL1). The patient was finally diagnosed with HHT according to the Curaçao diagnostic criteria eight years after the diagnosis of PAH. This case supports previous reports indicating that signs of PAH can be the first manifestation of disease in ACVRL1 mutation carriers.

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