title: Complicated granulomatous colitis in a Japanese patient with Hermansky-Pudlak syndrome, successfully treated with infliximab.
abstract: We report a case of refractory granulomatous colitis and perineal fistulas complicated by Hermansky-Pudlak syndrome (HPS) that was successfully treated by repeated infusions of infliximab. The patient was a mentally retarded 30-year-old Japanese man who was diagnosed with HPS based on albinism, nystagmus, and a history of bleeding diathesis in his childhood. Since he was 28 years old, he had suffered from severe granulomatous colitis with perineal fistulas, which had been resistant to medical treatment including sulfasalazine, mesalamine, and steroids. At 30 years of age, diverting colostomy was performed aiming at subsiding severe bleeding and a perianal abscess. Three months after surgery, the patient developed sudden onset of fever, chills, and bloody bowel movements. Then, infliximab was administered at a dose of 5 mg/kg, and most of symptoms were relieved within 48 h of administration. The patient obtained remission with a constant daily dosage of azathioprine and a monthly dosage of infliximab. The present case is the first report of complicated granulomatous colitis with HPS, which was successfully treated with infliximab in Japan.
authors.affiliation: Division of Reparative Medicine, Department of Gastrointestinal and Pediatric Surgery, Institute of Life Sciences, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Shigeyuki
authors.initials: S
authors.lastname: Yoshiyama
authors.affiliation: Division of Reparative Medicine, Department of Gastrointestinal and Pediatric Surgery, Institute of Life Sciences, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Chikao
authors.initials: C
authors.lastname: Miki
authors.affiliation: Division of Reparative Medicine, Department of Gastrointestinal and Pediatric Surgery, Institute of Life Sciences, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Araki
authors.affiliation: Division of Reparative Medicine, Department of Gastrointestinal and Pediatric Surgery, Institute of Life Sciences, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Morimoto
authors.affiliation: Division of Reparative Medicine, Department of Gastrointestinal and Pediatric Surgery, Institute of Life Sciences, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Okita
authors.affiliation: Division of Reparative Medicine, Department of Gastrointestinal and Pediatric Surgery, Institute of Life Sciences, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan. yoshiya@clin.medic.mie-u.ac.jp.
authors.forename: Masato
authors.initials: M
authors.lastname: Kusunoki
keywords: Granulomatous colitis; Hermansky–Pudlak syndrome; Infliximab