Overview
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and multisystem involvement including pulmonary fibrosis and granulomatous colitis 134.Diagnosis
Key Diagnostic Criteria: Oculocutaneous albinism, bleeding diathesis, and additional systemic manifestations such as pulmonary fibrosis 134.
Recommended Tests:
- Electroretinography (normal in HPS) 5
- Hematologic evaluation to assess platelet function and bleeding time 17
- Imaging studies (CT, HRCT) for pulmonary involvement 13
- Histopathological examination for ceroid lipofuscin deposition 4Management
First-Line Treatments:
- Management of bleeding episodes with transfusions and antifibrinolytic agents (e.g., tranexamic acid) 17
- Supportive care for pulmonary fibrosis, including oxygen therapy and pulmonary rehabilitation 13
Adjunctive Treatments:
- Regular monitoring and management of complications like granulomatous colitis with immunosuppressive therapy if refractory to medical management 4
- Preventive measures to minimize pulmonary insult 3Special Populations
Pregnancy:
- Heavy menstrual bleeding (HMB) and post-partum hemorrhage (PPH) are common, often leading to diagnosis 2
- Close obstetric monitoring and potential prophylactic interventions for HMB and PPH 2
Pediatrics:
- Early recognition and hematologic consultation due to risk of life-threatening bleeding 7
Comorbidities:
- Increased vigilance for pulmonary complications in individuals with known HPS, particularly those with Indian descent 3Key Recommendations
Screen for and monitor pulmonary complications in patients with HPS, especially those with oculocutaneous albinism and bleeding diathesis, given the high risk of pulmonary fibrosis 1 (Evidence: Moderate)
Initiate early hematologic evaluation in patients presenting with bleeding diathesis and albinism to diagnose HPS promptly 17 (Evidence: Moderate)
Provide close obstetric care for women with HPS due to the risk of severe obstetric bleeding 2 (Evidence: Weak)
Consider immunosuppressive therapy for refractory granulomatous colitis complicating HPS 4 (Evidence: Weak)
Implement preventive measures to mitigate pulmonary insults in HPS patients to potentially alter disease progression 3 (Evidence: Expert opinion)References
1 Du D, Yang T, Wan H, Luo F. Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review. Therapeutic advances in respiratory disease 2025. link
2 Obeng-Tuudah D, Hussein BA, Hakim A, Gomez K, Abdul Kadir R. The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2021. link
3 Liza AF, Aziah AM. Albinism and lung fibrosis in a young man - the first case of adult Hermansky-Pudlak Syndrome reported in Malaysia. The Medical journal of Malaysia 2012. link
4 Sandberg-Gertzén H, Eid R, Järnerot G. Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis. Scandinavian journal of gastroenterology 1999. link
5 Kinnear PE, Tuddenham EG. Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome. The British journal of ophthalmology 1985. link
6 Schinella RA, Greco MA, Garay SM, Lackner H, Wolman SR, Fazzini EP. Hermansky-Pudlak syndrome: a clinicopathologic study. Human pathology 1985. link80230-6)
7 Simon JW, Adams RJ, Calhoun JH, Shapiro SS, Ingerman CM. Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). American journal of ophthalmology 1982. link90701-2)