ArticleMolecular genetics and metabolism2026
Assessment of patient-reported symptoms in Hermansky-Pudlak syndrome.
Article in Molecular genetics and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeHermansky-Pudlak syndrome (HPS) is a rare multisystem disorder associated with defective biogenesis of lysosome-related organelles. Patient-reported symptoms in HPS have not been studied.
methodsAn 84-question HPS symptom scale assessing symptom prevalence, severity, and frequency across multiple organ systems was developed. Eighty-five individuals with HPS or caregivers of individuals with HPS completed the questionnaire. Symptoms of participants with BLOC-2 (i.e., HPS-3, HPS-5, HPS-6) and BLOC-3 (i.e., HPS-1, HPS-4) disease and children and adults with BLOC-3 disease were compared.
resultsHypopigmentation and photosensitivity affected all participants with BLOC-2 or BLOC-3 disease. Nystagmus, poor visual acuity, and easy bruising were also highly prevalent in BLOC-2 and BLOC-3 disease. Gastroesophageal reflux disease (GERD) affecting 62-69% was the most common gastrointestinal symptom. Dyspnea on exertion did not differ significantly between BLOC-3 (52%) and BLOC-2 disease (38%); wheezing affected approximately one-third. Palpitations, imbalance, headaches or migraines, and autoimmune symptoms (i.e., xerophthalmia, skin rashes, myalgia) were reported by the majority with BLOC-2 or BLOC-3 disease. GERD, xerophthalmia, and headaches or migraines were significantly more common in adults than children with BLOC-3 disease. Functional independence was reported by most adult participants with HPS.
conclusionComprehensive assessment of patient-reported symptoms showed that in addition to known manifestations of disease, GERD, cardiac, autoimmune, and neurologic symptoms are common in HPS. These results highlight the importance of patient-reported symptoms to expand the understanding of the extent and impact of their disease.
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