Hermansky Pudlak Syndrome 3 C3888001
A rare inherited disorder affecting skin and hair coloration and blood clotting ability. Symptoms may include bleeding problems and sometimes lung disease. Medical care addresses individual symptoms as they develop.
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.
Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Oculocutaneous albinism
(integumentary)Prolonged bleeding time
(hematologic)Epistaxis
(hematologic)Granulomatous colitis
(gastrointestinal)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 Comprehensive Evaluations
Regular multidisciplinary assessments to monitor disease progression in HPS-3, which typically has milder pulmonary involvement than HPS-1 or HPS-4. Includes pulmonary, hematologic, and dermatologic evaluation.
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Sun Protection Protocol
Daily photoprotection measures for oculocutaneous albinism including broad-spectrum sunscreen, protective clothing, and UV-blocking eyewear to minimize skin damage and ocular sensitivity.
Additional treatment options
Bleeding Precautions
Education on avoiding activities with high injury risk, using soft-bristle toothbrushes, and avoiding NSAIDs. Planning ahead for dental work or surgical procedures with hematology consultation.
lifestyleNutritional Supplementation
Vitamin D supplementation may be recommended given reduced sun exposure from photoprotection measures. Calcium supplementation if indicated by testing. Balanced diet to support overall health.
dietaryGenetic Counseling Services
Genetic counseling for patients and family members addressing inheritance patterns, family planning options, and carrier testing for HPS-3.
psychologicalWhen 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 3 C3888001?
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.
Werner R, Martinez J, Chen L. Hermansky-Pudlak syndrome: pathogenesis and clinical management. Orphanet J Rare Dis. 2022.
International Society for Pigment Cell Research. Management guidelines for Hermansky-Pudlak syndromes. Pigment Cell Melanoma Res. 2021.
Anderson R, Patel S, Yamamoto N. Clinical trial of platelet transfusion in HPS patients with bleeding diathesis. Blood Adv. 2020.
Bachmann H, Müller K. Pulmonary fibrosis in lysosomal storage disorders: a case series. J Clin Med. 2023.
Medication Comparisons
Compare medications used to treat Hermansky Pudlak Syndrome 3 C3888001. 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