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

著者情報

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

ジャーナルオープンアクセス

2014 年 53 巻 20 号 p. 2359-2363

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

詳細

抄録

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.

責任著者(Corresponding author)

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