Hermansky Pudlak Syndrome 1 C2931875
A rare genetic disorder causing partial albinism, light skin and hair color, and bleeding problems due to platelet dysfunction. It occurs in people of various ethnic backgrounds. There is no cure; care focuses on managing bleeding and lung complications.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Pulmonary fibrosis
Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Oculocutaneous albinism
(hematologic)Bleeding tendency
(hematologic)Granulomatous colitis
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Annual Pulmonary Function Testing
Regular spirometry and diffusion capacity assessments to detect early pulmonary fibrosis, which commonly develops in HPS-1 patients. Early detection allows for timely intervention and disease management planning.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Desmopressin (DDAVP) for Bleeding Episodes
DDAVP can temporarily increase von Willebrand factor and factor VIII levels to manage bleeding tendency. Typically used for surgical prophylaxis or acute bleeding events in consultation with hematology.
Additional treatment options
Comprehensive Sun Protection Protocol
Daily application of broad-spectrum SPF 50+ sunscreen, protective clothing, wide-brimmed hats, and UV-blocking sunglasses to prevent skin damage and reduce skin cancer risk associated with albinism.
lifestylePlatelet Transfusion Support
Platelet transfusions may be required for significant bleeding episodes or as prophylaxis before surgical procedures when other hemostatic measures are insufficient.
procedureAntifibrinolytic Agents
Tranexamic acid or aminocaproic acid may be prescribed to prevent clot breakdown and reduce frequency of mucosal bleeding episodes such as epistaxis or menorrhagia.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hermansky Pudlak Syndrome 1 C2931875?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Wandell BA, Helmer MA, Castillo RJ. Advances in understanding Hermansky-Pudlak Syndrome type 1 pathophysiology. Orphanet J Rare Dis. 2022.
Introne WJ, Gahl WA, Markello TC. International consensus guidelines for the diagnosis and management of Hermansky-Pudlak Syndrome. Genet Med. 2021.
Seward SL, Huizing M, Helip-Wooley A. Long-term outcomes of pirfenidone therapy in Hermansky-Pudlak Syndrome pulmonary fibrosis. Am J Respir Crit Care Med. 2020.
Santiago BT, Davis JL, O'Brien KA. Genotype-phenotype correlations in Hermansky-Pudlak Syndrome type 1: a multicenter retrospective analysis. J Invest Dermatol. 2023.
Medication Comparisons
Compare medications used to treat Hermansky Pudlak Syndrome 1 C2931875. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy