Assessment of patient-reported symptoms in Hermansky-Pudlak syndrome.

PURPOSE: Hermansky-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.

METHODS

An 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.

RESULTS

Hypopigmentation 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.

CONCLUSION

Comprehensive 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.