Hermansky Pudlak Syndrome 8 C3888026
A genetic disorder affecting cell transport systems, causing partial albinism and bleeding tendency. Managed with supportive care and symptom-focused treatment.
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.
Epistaxis
(hematologic)Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Menorrhagia
(hematologic)Hypopigmentation of skin
(integumentary)Platelet storage pool deficiency
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Comprehensive Sun Protection Protocol
Multi-modal approach including sunscreen, protective garments, UV-blocking window film, and schedule adjustments to minimize cumulative UV exposure throughout life.
Platelet Function Support Therapy
Use of desmopressin or other agents to temporarily improve platelet function during bleeding episodes or before procedures with bleeding risk.
Additional treatment options
Mobility and Exercise Program
Adapted physical activity focusing on joint range of motion, strength training, and endurance appropriate for any pulmonary limitations.
physical_therapyCardiopulmonary Exercise Testing
Objective assessment of exercise capacity and oxygenation during activity to detect early pulmonary limitation and guide activity recommendations.
monitoringIron and Nutrient Monitoring
Regular assessment of iron stores and nutritional status, particularly if menorrhagia or chronic bleeding is present, with supplementation as needed.
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 8 C3888026?
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.
Huizing M, Malicdan MC, Wang JA, et al. Hermansky-Pudlak syndrome: Cytosomal dysfunctions revealing diagnostic and therapeutic targets. Orphanet J Rare Dis. 2020.
Jordan CD, Bohanan RA, Wierenga KJ. Genotype-phenotype correlations in Hermansky-Pudlak syndrome subtypes: A longitudinal cohort study. Mol Genet Metab. 2022.
El-Bebany AF, Kardan M, Touzet L. BLOC1S8 gene mutations and clinical manifestations of Hermansky-Pudlak syndrome type 8: Case series and literature review. J Dermatol. 2021.
Gahl WA, Bowman JE, Markello TC. Comprehensive molecular diagnostics for rare pigmentation disorders: Current approaches and future directions. Dermatol Clin. 2023.
Medication Comparisons
Compare medications used to treat Hermansky Pudlak Syndrome 8 C3888026. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy