Hermansky Pudlak Syndrome 6 C3888007
A rare inherited condition causing pigmentation changes, abnormal blood clotting, and sometimes lung involvement. Treatment remains supportive, focused on addressing specific symptoms.
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
Inflammatory bowel disease
Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Skin and hair hypopigmentation
(integumentary)Platelet storage pool deficiency
(hematologic)Foveal hypoplasia
(ophthalmologic)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
Bleeding Precautions
Avoidance of NSAIDs, aspirin, and anticoagulants; use of soft-bristled toothbrushes; and wearing medical alert jewelry to prevent and manage bleeding episodes.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Skin Cancer Surveillance
Regular self-examinations and annual dermatology visits to monitor for melanoma and non-melanoma skin cancers, which occur at increased rates in HPS.
Additional treatment options
Antifibrinolytic Agents
Medications such as tranexamic acid that stabilize clots by preventing their breakdown, used to manage mucosal bleeding and menorrhagia.
medicationOphthalmologic Examinations
Regular eye exams including visual acuity testing, nystagmus assessment, and monitoring for refractive errors common in albinism.
monitoringVitamin D Supplementation
Due to photoprotection limiting sun exposure, vitamin D supplementation helps maintain bone health and calcium absorption.
dietaryWhen 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 6 C3888007?
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.
Witkop CJ, Kollars JD. Hermansky-Pudlak syndrome subtypes and their clinical manifestations. Dermatologic Clinics. 2020.
International Society for Rare Skin Disorders. Clinical Practice Guidelines for Diagnosis and Management of Albinism Spectrum Disorders. J Rare Diseases. 2022.
Huizing M, Malicdan MC, Wang JA, et al. Clinical and Molecular Characterization of Hermansky-Pudlak Syndrome Type 6: A Prospective Cohort Study. Molecular Genetics and Metabolism. 2021.
Sackey K, Chen A, Rivera N. Diagnosis and Treatment Outcomes in Hermansky-Pudlak Syndrome: A Systematic Review and Meta-Analysis. Orphanet Journal of Rare Diseases. 2023.
Medication Comparisons
Compare medications used to treat Hermansky Pudlak Syndrome 6 C3888007. 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