ICD10 code of Hermansky-Pudlak syndrome and ICD9 code

Hermansky-Pudlak syndrome is classified under the ICD-10-CM code E70.330 (Hermansky-Pudlak syndrome) and the legacy ICD-9-CM code 270.2 (Other disorders of amino-acid metabolism). These diagnostic codes are essential for medical billing, insurance authorization, and tracking the clinical management of patients within global healthcare systems.

What is Hermansky-Pudlak syndrome?

Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder characterized by oculocutaneous albinism, a bleeding diathesis due to platelet storage pool deficiency, and lysosomal accumulation of ceroid lipofuscin. Because Hermansky-Pudlak syndrome involves multiple organ systems, including the lungs and gastrointestinal tract, accurate coding is critical for coordinating multidisciplinary care. Currently, eight individuals living with Hermansky-Pudlak syndrome have joined the DiseaseMaps.org community, sharing their lived experiences with this complex condition.

How are the ICD codes for Hermansky-Pudlak syndrome used?

Medical coding provides a universal language for healthcare providers to document the specific manifestations of Hermansky-Pudlak syndrome. While the primary diagnosis is captured by the ICD-10 code E70.330, physicians often use additional codes to document specific comorbidities associated with the syndrome. Common clinical features that may require secondary coding include:

• Pulmonary fibrosis: A significant, life-limiting complication often seen in HPS-1, HPS-2, and HPS-4 subtypes.


• Granulomatous colitis: An inflammatory bowel condition that resembles Crohn’s disease and is frequent in Hermansky-Pudlak syndrome patients.


• Ocular albinism: Documented as nystagmus or reduced visual acuity resulting from pigment deficiency.


• Platelet dysfunction: Leading to easy bruising, epistaxis, or prolonged bleeding during surgical procedures.

Is Hermansky-Pudlak syndrome hereditary?

Yes, Hermansky-Pudlak syndrome is an autosomal recessive disorder, meaning an individual must inherit two copies of a mutated gene—one from each parent—to manifest the disease. There are currently 11 known genetic subtypes (HPS-1 through HPS-11), each corresponding to a different gene involved in the biogenesis of lysosome-related organelles. Genetic counseling is strongly recommended for families affected by Hermansky-Pudlak syndrome to understand the 25% recurrence risk for each pregnancy and to facilitate carrier testing for relatives.

What should patients know about clinical documentation?

Because Hermansky-Pudlak syndrome is rare, it is vital that patients ensure their medical records accurately reflect the specific genetic subtype if known. Precise coding helps justify specialized treatments, such as pulmonary function testing, ophthalmological exams, or hematology consultations. If you are struggling to navigate insurance or medical documentation, it is helpful to provide your care team with the ICD-10 code E70.330 to ensure they are referencing the correct diagnostic criteria.

Next steps

• Consult with a clinical geneticist to confirm your specific HPS subtype through molecular genetic testing.


• Request a referral to a pulmonologist experienced in interstitial lung disease, as pulmonary fibrosis is a critical concern in several HPS types.


• Join the DiseaseMaps.org community to connect with other families and share resources on managing the daily challenges of this rare condition.


• Discuss platelet function testing with a hematologist before any planned surgical or dental procedures to manage bleeding risks.

Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

References

• Orphanet: Hermansky-Pudlak syndrome (ORPHA:399).


• NIH Genetic and Rare Diseases Information Center (GARD): Hermansky-Pudlak syndrome.


• OMIM (Online Mendelian Inheritance in Man): Entry #203300.


• Hermansky-Pudlak Syndrome Network: Patient resources and clinical support.