Original articleIntestinal Disease in Hermansky-Pudlak Syndrome: Occurrence of Colitis and Relation to Genotype
Section snippets
Patients
One hundred twenty-two patients with HPS were admitted to the NIH Clinical Center between September 1993 and March 2005. All patients were enrolled in a protocol approved by the Institutional Review Boards of the National Institute of Child Health and Human Development and the National Human Genome Research Institute to study the clinical and molecular aspects of HPS. Written informed consent was obtained from each patient or parent for the purpose of collecting genetic, medical, and clinically
Patient Demographics
The medical records of 122 patients admitted for HPS evaluation were reviewed for endoscopic procedures on the gut. The diagnosis of HPS was established by clinical findings and electron microscopy of platelets (Figure 1). The HPS-1 subtype was most common, occurring in 65% of this group (Table 1). For 10 of the 122 patients, a specific genetic HPS subtype could not be identified; these patients were categorized as “HPS-Type Unknown.”
Twenty-four patients were identified as having had an
Discussion
Our retrospective study of a population of patients with HPS showed that when gastrointestinal symptoms (especially diarrhea and lower gastrointestinal bleeding) were investigated by endoscopy, a high frequency of IBD (8 of 24 patients) could be documented. This IBD can be characterized as primarily colitis, although coexisting terminal ileal inflammation was also noted in the absence of small bowel endoscopic abnormalities (routine examination of the small bowel by imaging studies was not
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Cited by (47)
Pediatric very early onset inflammatory bowel disease: Role of pathology
2023, Annales de PathologieAbsence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome
2021, Human Pathology: Case ReportsCitation Excerpt :It is not clear, however, whether the patient’s DCM would have developed in the absence of HPS or if it was precipitated by early manifestations of the patient’s HPS-related ILD. HPS types 1 and 4 also have also been associated with a type of granulomatous colitis similar to Crohn’s disease [28]. Our patient did not show any signs, symptoms, or pathologic evidence of this syndrome.
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis
2018, Molecular Genetics and MetabolismCitation Excerpt :Thus, it is possible that this patient's favorable clinical course with respect to her lung disease may be related to anti-inflammatory and anti-fibrotic effects of pirfenidone. Indeed, this patient did not succumb to HPS pulmonary fibrosis; her death was due to complications from a recto-vaginal fistula, a long-term sequela of chronic severe HPS colitis [29]. Notably, one patient was 73 years of age when she died, which is well beyond the typical life-expectancy of a patient with HPS-1.
Hermansky-Pudlak Syndrome
2016, Clinics in Chest MedicineCongenital intestinal diarrhoeal diseases: A diagnostic and therapeutic challenge
2016, Best Practice and Research: Clinical GastroenterologyCitation Excerpt :Laboratory investigations show prolonged bleeding time and abnormal platelet function assays. Some patients with HPS-1, -4 and -6 genotypes develop diarrhoea or bleeding and may have a complicated disease by structuring and fistula [68,75,99]. Histology may reveal diffuse or granulomatous inflammation [99].
Supported by the Intramural Research Program of the NIH, National Human Genome Research Institute, National Institute of Allergy and Infectious Disease, and the National Cancer Institute.