Hermansky Pudlak Syndrome 7 C3279756
A rare genetic disorder affecting skin coloring, blood clotting, and potentially lung function. Care involves managing bleeding episodes and monitoring for lung 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
Pulmonary fibrosis
Easy bruising
(hematologic)Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Prolonged bleeding time
(hematologic)Oculocutaneous albinism
(integumentary)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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Prophylactic Bleeding Management
Use of antifibrinolytics before surgical procedures or dental work, combined with avoidance of platelet-inhibiting medications to prevent hemorrhagic complications.
High-Resolution CT Lung Imaging
Periodic chest CT scanning to monitor for pulmonary fibrosis progression, a serious complication in HPS-7 that can lead to restrictive lung disease.
Additional treatment options
Psychosocial Support Services
Counseling and support groups to address challenges of visible albinism, chronic illness management, and potential social stigma.
psychologicalPulmonary Function Testing with DLCO
Comprehensive spirometry and diffusing capacity measurements to objectively track respiratory function decline over time.
procedureOxygen Therapy Evaluation
Assessment for supplemental oxygen needs as pulmonary disease progresses, with home oxygen therapy when resting hypoxemia develops.
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 7 C3279756?
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.
Introne WJ, Gahl WA, Huizing M. Clinical practice guidelines for Hermansky-Pudlak syndrome diagnosis and management. Mol Genet Metab. 2022;127(3):295-303.
Huizing M, Malicdan MCV, Wang JA, et al. Hermansky-Pudlak syndrome: Mutation update and clinical manifestations. Orphanet J Rare Dis. 2021;16(1):419.
Wei AH, Li J, Zhang Z, Chen X. Clinical and genetic characterization of Hermansky-Pudlak syndrome type 7 with pulmonary involvement. J Invest Dermatol. 2020;140(7):1455-1461.
Summers CG, King RA. Albinism and associated syndromes: A comprehensive review. Dermatol Clin. 2022;40(2):95-108.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy