An Autopsy Case of Hermansky-Pudlak Syndrome: A Case Report and Review of the Literature on Treatment

Tatsuhiko Harada; Yuji Ishimatsu; Shota Nakashima; Shiro Miura; Masaomi Tomonaga; Tomoyuki Kakugawa; Shintaro Hara; Noriho Sakamoto; Chiharu Yoshii; Hiroshi Mukae; Yoshinori Kawabata; Shigeru Kohno

doi:10.2169/internalmedicine.53.2239

CASE REPORTS

An Autopsy Case of Hermansky-Pudlak Syndrome: A Case Report and Review of the Literature on Treatment

Tatsuhiko Harada, Yuji Ishimatsu, Shota Nakashima, Shiro Miura, Masaomi Tomonaga, Tomoyuki Kakugawa, Shintaro Hara, Noriho Sakamoto, Chiharu Yoshii, Hiroshi Mukae, Yoshinori Kawabata, Shigeru Kohno

Author information

Tatsuhiko Harada
The Second Department of Internal Medicine, Nagasaki University School of Medicine, Japan
Yuji Ishimatsu
The Second Department of Internal Medicine, Nagasaki University School of Medicine, Japan
Shota Nakashima
The Second Department of Internal Medicine, Nagasaki University School of Medicine, Japan
Shiro Miura
Tissue and Histopathology Section, Division of Scientific Date Registry, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Japan
Masaomi Tomonaga
The Second Department of Internal Medicine, Nagasaki University School of Medicine, Japan
Tomoyuki Kakugawa
The Second Department of Internal Medicine, Nagasaki University School of Medicine, Japan
Shintaro Hara
The Second Department of Internal Medicine, Nagasaki University School of Medicine, Japan
Noriho Sakamoto
The Second Department of Internal Medicine, Nagasaki University School of Medicine, Japan
Chiharu Yoshii
Department of Respiratory Medicine, University of Occupational and Environmental Health, Japan
Hiroshi Mukae
Department of Respiratory Medicine, University of Occupational and Environmental Health, Japan
Yoshinori Kawabata
Department of Pathology, Saitama Cardiovascular and Respiratory Center, Japan
Shigeru Kohno
The Second Department of Internal Medicine, Nagasaki University School of Medicine, Japan

Keywords: Hermansky-Pudlak syndrome, pulmonary fibrosis, autopsy, pirfenidone, lung transplantation

JOURNAL OPEN ACCESS

2014 Volume 53 Issue 23 Pages 2705-2709

DOI https://doi.org/10.2169/internalmedicine.53.2239

Details

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which influencing the prognosis is pulmonary fibrosis. In the present report, we describe an autopsy case of a Japanese woman with HPS. The patient was diagnosed at 50 years of age based on the presence of oculocutaneous albinism, hemorrhagic diathesis, ceroid-lipofuscin accumulation and pulmonary fibrosis. Although systemic steroids, immunosuppressants and pirfenidone were administered for pulmonary involvement, she died from respiratory failure two years later. Obtaining an early diagnosis and taking into consideration the need for lung transplantation is necessary in order to improve the prognosis of HPS. We herein report this very rare Japanese case of HPS with a review of the treatment approaches for HPS complicated with pulmonary fibrosis.

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