An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment.

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.

• Authors: Tatsuhiko Harada, Yuji Ishimatsu, Shota Nakashima, Shiro Miura, Masaomi Tomonaga, Tomoyuki Kakugawa, Shintaro Hara, Noriho Sakamoto, Chiharu Yoshii, Hiroshi Mukae, Yoshinori Kawabata, Shigeru Kohno
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 53 Issue 23 Pg. 2705-9 ( 2014) ISSN: 1349-7235 [Electronic] Japan
• PMID: 25447654 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Adrenal Cortex Hormones
• Ceroid
• Immunosuppressive Agents
• Lipofuscin
• Pyridones
• pirfenidone

Topics

• Adrenal Cortex Hormones (administration & dosage)
• Autopsy
• Ceroid (metabolism)
• Drug Therapy, Combination
• Fatal Outcome
• Female
• Hemorrhagic Disorders (complications, diagnosis)
• Hermanski-Pudlak Syndrome (complications, diagnosis, pathology)
• Humans
• Immunosuppressive Agents (administration & dosage)
• Lipofuscin (metabolism)
• Lung Transplantation
• Middle Aged
• Pulmonary Fibrosis (complications, diagnosis, drug therapy, etiology, pathology)
• Pyridones (administration & dosage)
• Respiratory Insufficiency (etiology, pathology)