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Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study
- Source :
- Journal of internal medicineReferences. 290(1)
- Publication Year :
- 2021
-
Abstract
- Background Knowledge about inflammatory bowel disease (IBD) in patients with Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles, could provide insights into IBD in general. Objective To expand the understanding of IBD in patients with HPS. Methods Retrospective review of records from patients with HPS evaluated at the National Institutes of Health Clinical Center from 1995 to 2019 was conducted. Clinical features of IBD, genotyping results and histologic findings of colectomy specimens were analysed. Results IBD affected 37 (14.2%; 12 male, 25 female) of 261 patients with HPS. Median age of onset was 17 years; range was 1 to 52 years. The most common symptoms of HPS IBD were hematochezia, abdominal pain and loose stools. Fistulae or extra-intestinal manifestations developed in 30% or 22%, respectively. Genotyping showed that patients with biallelic variants in HPS1, HPS3, HPS4 or HPS6 were diagnosed with IBD. Six children had very early-onset IBD. Patients with HPS-3 had mild manifestations of IBD. Medical therapy and bowel resection were utilized to treat 73% and 35% of patients with HPS IBD, respectively; 7 of 13 patients receiving anti-tumor necrosis factor alpha therapy had prolonged clinical responses. Active cryptitis, chronic inflammatory changes, granulomas and ceroid lipofuscinosis were histopathologic findings in three colectomy specimens. Conclusions IBD resembling Crohn's disease affects some patients with HPS; genetic heterogeneity is a feature of HPS IBD. HPS3 is a new gene associated with human IBD. Very early-onset IBD can develop in HPS.
- Subjects :
- Adult
Male
medicine.medical_specialty
Abdominal pain
Cryptitis
Adolescent
Genotype
medicine.medical_treatment
digestive system
Inflammatory bowel disease
Gastroenterology
Young Adult
Internal medicine
Internal Medicine
medicine
Humans
Age of Onset
Child
Defecation
Colectomy
Retrospective Studies
business.industry
Infant
Bowel resection
Middle Aged
medicine.disease
Inflammatory Bowel Diseases
eye diseases
digestive system diseases
Hematochezia
Infliximab
Abdominal Pain
Hermanski-Pudlak Syndrome
Child, Preschool
Female
medicine.symptom
Age of onset
business
Gastrointestinal Hemorrhage
medicine.drug
Subjects
Details
- ISSN :
- 13652796
- Volume :
- 290
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Journal of internal medicineReferences
- Accession number :
- edsair.doi.dedup.....8cb23bdaa02118a23a060cb7993f23c7