Refractory Colitis in Hermansky-Pudlak Syndrome: A Surgical Case Report

TL;DR

This case report describes a rare complication of Hermansky-Pudlak syndrome where colitis did not respond to standard treatment and required surgery.

Contribution

The paper presents a unique surgical case of infliximab-resistant HPS colitis with detailed preoperative and histopathological findings.

Findings

A 24-year-old patient with HPS-1 required laparoscopic surgery due to a refractory colitis stricture.

Histopathology showed chronic active colitis with transmural inflammation and ceroid deposition.

Preoperative hematologic optimization was critical due to platelet dysfunction in HPS.

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction, and, in some subtypes, pulmonary fibrosis and colitis. HPS-associated colitis, particularly subtypes HPS-1 and HPS-4, often mimics Crohn’s disease but exhibits a more refractory course, frequently necessitating immunomodulatory therapy and, in severe cases, surgical intervention. We present the case of a 24-year-old Puerto Rican male with infliximab-resistant HPS-associated colitis who developed a symptomatic sigmoid stricture, requiring laparoscopic low anterior resection with protective loop ileostomy. Preoperative hematologic optimization was essential due to the inherent platelet dysfunction in HPS. Histopathology confirmed chronic active colitis with transmural inflammation, fistulous tract formation, and ceroid deposition. This case underscores the complexity of managing refractory HPS colitis and highlights the role of early recognition and disease monitoring, optimization, and surgical intervention.

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