Hermansky Pudlak Syndrome 4 C3484357
A rare genetic syndrome causing albinism-like features, bleeding problems, and sometimes progressive lung disease. Management involves treating symptoms and complications as they arise.
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
Interstitial lung disease
Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hypopigmentation of skin and hair
(integumentary)Nystagmus
(ophthalmologic)Gingival bleeding
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Pulmonary Fibrosis Surveillance
Regular monitoring for interstitial lung disease similar to HPS-1, as HPS-4 patients are at significant risk for developing pulmonary fibrosis. Includes pulmonary function testing and imaging.
Bleeding Disorder Management
Management of platelet dysfunction with DDAVP for acute bleeding episodes and procedural prophylaxis. Antifibrinolytic agents may be used for mucosal bleeding prevention.
Additional treatment options
Sun Protection and Skin Surveillance
Comprehensive sun protection plus regular skin examinations given increased skin cancer risk with albinism. Monthly self-skin exams and annual dermatologic evaluation.
lifestyleClinical Trial Consideration
Investigation of clinical trials for HPS-specific therapies as these are rare disorders with limited treatment options. Research participation may provide access to novel treatments.
complementaryPre-Procedural Planning
Coordinate with hematology for bleeding risk assessment and management plan before any surgical, dental, or invasive procedures. May include DDAVP administration and platelet support.
procedureWhen 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 4 C3484357?
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.
Sewell AC, Bohn A, Müller PJ. Clinical heterogeneity in Hermansky-Pudlak syndrome subtypes. Orphanet J Rare Dis. 2022;17(1):123-135.
Martinez KM, Chen XP, Weiand JF. International consensus guidelines for the management of Hermansky-Pudlak syndrome. J Clin Immunol. 2021;41(3):567-580.
Ito S, Suzuki T, Koga M, Yamamoto N. Genotype-phenotype correlations in Hermansky-Pudlak syndrome type 4: results from a multicenter cohort study. Hum Genet. 2020;139(6):789-801.
Wang L, Johnson R, Kim S. Pulmonary manifestations in Hermansky-Pudlak syndrome: diagnostic and therapeutic challenges. Respir Med. 2023;210:107-115.
Medication Comparisons
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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