Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia.

Abstract

BACKGROUND Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and potential multi-organ involvement such as pulmonary fibrosis and granulomatous colitis. While its incidence is globally low, it may be under-reported, particularly in regions with high rates of consanguinity, such as the Middle East. By reporting this case, we aim to increase awareness of this condition as well as its association with ILD. CASE REPORT Herein, we present the case of a 48-year-old Saudi man of Arab descent with a 2-year history of progressive exertional dyspnea that recently worsened over the last 6 months, resulting in a Modified Medical Research Council (MMRC) dyspnea scale score increase from 2 to 3. Examination revealed signs consistent with albinism, accompanied by bibasilar end-inspiratory crackles on chest auscultation. Further evaluations revealed CT imaging consistent with non-specific interstitial lung pneumonia pattern (NSIP) with associated precapillary pulmonary hypertension. Notably, the patient exhibited oculocutaneous albinism, prompting consideration of Hermansky-Pudlak syndrome. Genetic testing confirmed an autosomal recessive HPS type 1 variant, a rarity in the Middle East. CONCLUSIONS HPS1 with ILD is rare in Saudi Arabia. This report describes such a case, offering important insight into its clinical presentation. Clinical management entails a multidisciplinary approach, including supportive care, preventive measures, and consideration of lung transplantation for severe cases. Consanguinity and endogamy, which are quite prevalent in the Middle East, probably means there is more prevalence of HPS and HPS-associated ILD than is recognized. Heightened awareness among healthcare providers is paramount for early diagnosis and optimal management of HPS-associated complications.