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Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report
Paul Girot1, Catherine Le Berre2, Astrid De Maissin1
1Institut des Maladies de l'Appareil Digestif, Department of Gastroenterology and Digestive Oncology, Nantes University Hospital, Nantes Cedex 44093, France.
Insights
Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder. This case highlights successful treatment of severe colitis in HPS type 1 using therapies similar to Crohn's disease, including azathioprine and infliximab.
Area of Science:
- Genetics and rare diseases
- Gastroenterology
- Immunology
Background:
- Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder.
- HPS involves oculocutaneous albinism, platelet dysfunction, and ceroid deposition.
- HPS types 1 and 4 are linked to Crohn's disease (CD)-like gastrointestinal issues, including severe colitis.
Observation:
- A 51-year-old albino woman presented with acute severe colitis.
- Histology revealed chronic inflammation, deep ulcerations, and granulomas.
- Genetic analysis confirmed HPS type 1 due to a homozygous deletion in the HPS1 gene.
Findings:
- Following platelet transfusion to manage bleeding, the patient's granulomatous colitis responded well to treatment.
- The treatment regimen included corticosteroids, azathioprine, and infliximab (anti-TNFα therapy).
- This response was similar to treatments used for CD.
Implications:
- The findings suggest that HPS-related granulomatous colitis may be treatable with CD-like therapies.
- This response could indicate a genetic susceptibility to CD in HPS patients.
- Further research is needed to clarify the exact cause of colitis in HPS.
Background:
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency and systemic complications associated with ceroid deposition in the reticuloendothelial system. HPS types 1 and 4 are associated with Crohn's disease (CD)-like gastrointestinal disorders, such as granulomatous enterocolitis or perianal disease. Cases of colitis can be particularly severe and, before the use of anti-tumor necrosis factor alpha (TNFα) therapy had become common, were reported as showing poor responsiveness to medical treatment.
Case Summary:
We present the case of a 51-year-old albino woman who presented with acute severe colitis that led to the diagnosis of HPS. Histologic findings of biopsy samples showed chronic inflammation with deep ulcerations, and granulomas without caseous necrosis. Molecular genetic analysis confirmed HPS type 1, with a homozygous 27 base-pair deletion in exon 20 of the HPS1 gene. Once the patient's bleeding diathesis was corrected by platelet transfusion, the granulomatous colitis responded dramatically to a medical treatment regimen that included corticosteroids, azathioprine and infliximab; this regimen is similar to that used in CD treatment. Although it remains unclear if the granulomatous enterocolitis in HPS is due to ceroid deposition or reflects the co-existence of CD and HPS, the fact that this case of HPS-related granulomatous colitis responded to the same therapeutic approach used in CD suggests that this type of colitis may result from HPS patients' genetic susceptibility to CD.
Conclusion:
We report a case of severe colitis that led to the diagnosis of HPS, which was responsive to azathioprine and infliximab.