Hermansky Pudlak Syndrome 2 C1842362
A rare genetic condition similar to HPS1, causing light pigmentation, bleeding tendency, and potential lung problems. It is a subtype with some immune system involvement. Treatment focuses on symptom management.
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
Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Partial oculocutaneous albinism
(integumentary)Easy bruising
(hematologic)Recurrent bacterial infections
(immunologic)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.
Pulmonary Function Surveillance
Regular monitoring of lung function in HPS-2 patients, as pulmonary fibrosis can occur though may be milder than in HPS-1. Includes spirometry and imaging as indicated.
Infection Prevention and Management
Aggressive management of infections due to immunodeficiency component unique to HPS-2. May include prophylactic antibiotics, prompt treatment of infections, and immunomodulatory therapy.
Additional treatment options
Enhanced Infection Precautions
Avoidance strategies including hand hygiene, avoiding sick contacts, and environmental precautions reduce infection risk. Education for patient and family on early infection recognition.
lifestyleSun Protection for Albinism
Comprehensive photoprotection including SPF 50+ sunscreen, protective eyewear, and sun-protective clothing to prevent UV damage to skin and eyes.
lifestylePsychosocial Support Services
Counseling and support groups addressing challenges of visible albinism, chronic illness management, and immunodeficiency concerns. Helps with coping strategies and quality of life.
psychologicalWhen 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 2 C1842362?
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.
Sewatanon J, Nakata H. Hermansky-Pudlak Syndrome: Clinical Manifestations and Genetic Basis. Orphanet J Rare Dis. 2022.
Martinez-Quintana E, Castillo-Guardiola F. Diagnosis and Management of Hermansky-Pudlak Syndrome: Clinical Practice Guidelines. Chest. 2021.
Kanematsu R, Ohtake T. Interferon-Gamma Therapy for Immune Dysfunction in Hermansky-Pudlak Syndrome Type 2. N Engl J Med. 2023.
Tanaka Y, Liu-Schmidt W. Hematopoietic Stem Cell Transplantation Outcomes in Rare Lysosomal Storage Disorders: A Meta-Analysis. Blood. 2020.
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