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2025 ICD-10-CM code E80.0

Hereditary erythropoietic porphyria, also known as congenital erythropoietic porphyria or erythropoietic protoporphyria (EPP).

Use E80.0 as the primary code for patients with confirmed hereditary erythropoietic porphyria. Additional codes may be necessary to reflect specific manifestations or complications.

Medical necessity for services related to E80.0 is established by the presence of signs, symptoms, and laboratory findings consistent with the diagnosis, along with the need for ongoing management and treatment of associated complications.

Diagnosis and management are typically overseen by hematologists, geneticists, dermatologists, and potentially gastroenterologists/hepatologists if liver complications arise.

In simple words: Hereditary erythropoietic porphyria is a rare inherited blood disorder that makes the skin very sensitive to sunlight and some types of artificial light.It can also cause problems with bones and the liver.

A rare inherited disease caused by mutations in the FECH gene that result in a deficiency of the enzyme ferrochelatase (FECH), leading to skin lesions and bone loss. In EPP, excess porphyrin accumulates in red blood cells, plasma, and bone marrow.This is one of a group of at least eight different types of porphyria, each caused by a different enzyme deficiency. EPP is inherited in an autosomal recessive manner.

Example 1: A 5-year-old child presents with painful skin reactions after brief sun exposure. Lab tests reveal elevated protoporphyrin levels, leading to a diagnosis of E80.0., An adult patient experiences chronic photosensitivity and has a family history of porphyria. Genetic testing confirms the diagnosis of E80.0., A patient with E80.0 develops gallstones and abnormal liver function tests, requiring further management by a gastroenterologist.

Documentation should include family history, clinical presentation (skin lesions, pain, etc.), laboratory results (protoporphyrin levels, liver function tests, genetic testing), and any related complications.

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