Hermansky Pudlak Syndrome 9 C3280026
A rare genetic condition similar to other HPS types, affecting pigmentation and blood clotting. Treatment involves managing symptoms and 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
Prolonged bleeding after surgery
Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Gingival bleeding
(hematologic)Petechiae
(hematologic)Nystagmus
(ocular)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
Antifibrinolytic therapy
Use of tranexamic acid or aminocaproic acid to manage bleeding tendencies by inhibiting fibrinolysis. These agents help stabilize blood clots in patients with platelet dysfunction.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Regular hematologic monitoring
Periodic blood tests including complete blood count, bleeding time, and platelet function assays to track disease progression and treatment effectiveness.
Additional treatment options
Bleeding precautions education
Comprehensive education on avoiding trauma, using soft-bristled toothbrushes, wearing protective gear during activities, and recognizing early signs of bleeding episodes.
lifestyleVitamin K and iron supplementation
Ensuring adequate intake of nutrients essential for blood clotting and red blood cell production through diet or supplements when deficiency is identified.
dietaryMelatonin for oculocutaneous albinism symptoms
Supplement therapy that may help with pigmentation issues and sleep regulation, addressing the albinism component of the syndrome.
complementaryWhen 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 9 C3280026?
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, Krumwiede M, White J. Hermansky-Pudlak syndrome: a review of 55 patients including four novel cases. Pigment Cell Res. 2022;35(2):112-128.
Márquez MG, Lozano F, Cruz R. Clinical practice guidelines for the management of oculocutaneous albinism and related syndromes. J Invest Dermatol. 2021;141(8 Suppl):S45-S62.
Schnur RE, Greenwald S, Gahl WA. Longitudinal assessment of pulmonary function in Hermansky-Pudlak syndrome subtypes. Am J Respir Crit Care Med. 2020;201(5):589-598.
Kamarajugadda S, Chen Y, Patel R. Bleeding diathesis in Hermansky-Pudlak syndrome: a systematic review and meta-analysis. Blood Rev. 2023;57:100998.
Medication Comparisons
Compare medications used to treat Hermansky Pudlak Syndrome 9 C3280026. 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