Case Report: Hermansky–Pudlak syndrome type 1 with pulmonary involvement in a 62-year-old Caucasian woman with rheumatoid arthritis

IntroductionHermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA), ocular nystagmus, bleeding diathesis and, in certain forms, pulmonary fibrosis (PF). We report a case of genetically confirmed HPS type 1 (HPS-1) with pulmonary involvement in a patient with rheumatoid arthritis (RA).Patient concerns and clinical findingsA 62-year-old Caucasian woman, former smoker, was referred for progressive pulmonary fibrosis (PPF) documented since 2019.

History included chronic kidney disease and RA diagnosed in 2022, treated with hydroxychloroquine, prednisone, and abatacept. On presentation, she exhibited exertional dyspnea.

Distinctive features included OCA, ocular nystagmus, and recurrent non-traumatic bruises, consistent with a bleeding tendency.Diagnostic assessmentBetween 2021 and 2024, spirometry documented a decline in forced vital capacity - percent of predicted (FVC%) from 86% to 61% and a reduction in diffusing capacity of carbon monoxide - percent of predicted (DLCO%) from 60% to 37%. The six-minute walking test (6MWT) revealed exertional desaturation.

High-resolution computed tomography (HRCT) showed PPF characterized by reticular thickening, ground-glass opacities (GGO), honeycombing, and traction bronchiectasis.