E70.331
BillableHermansky-Pudlak syndrome
HCC Category Mapping
What This Code Means
Hermansky-Pudlak syndrome is a rare inherited disorder that affects the body's ability to produce and store pigment, resulting in light skin, light-colored eyes, and bleeding problems due to abnormal blood platelets. Patients with this condition are at increased risk for lung disease and other complications.
Coding Tips
- •This is a specific subtype code (E70.331) that indicates Hermansky-Pudlak syndrome type 1; verify the specific type documented in the medical record as other types (E70.332, E70.339) exist
- •This is a rare genetic disorder; ensure documentation clearly states the diagnosis and consider querying the provider if the condition is mentioned without specification of type, as accurate subtype coding is important for rare disease registries and research
Clinical Significance
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding diathesis from platelet storage pool deficiency, and in several subtypes, progressive pulmonary fibrosis or granulomatous colitis. There are multiple genetic subtypes (HPS-1 through HPS-10), with HPS-1 and HPS-4 carrying the highest risk of fatal pulmonary fibrosis. This condition is particularly prevalent in Puerto Rican populations.
Documentation Requirements
- ✓Documentation should include genetic testing confirming the specific Hermansky-Pudlak syndrome subtype, platelet electron microscopy showing absent dense bodies, bleeding history and severity, pulmonary function testing and chest imaging for fibrosis surveillance, and gastrointestinal evaluation if colitis symptoms are present.
- ✓The specific subtype is important as it determines pulmonary fibrosis risk.
- ✓Ophthalmologic findings and visual acuity should be documented.