E80.0

Applicable To

• Congenital erythropoietic porphyria

• Erythropoietic protoporphyria

Approximate Synonyms

• Congenital erythropoietic porphyria

Clinical Information

• A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.

• A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme uroporphyrinogen iii cosynthetase. It results in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas.

• An autosomal dominant porphyria that is due to a deficiency of ferrochelatase heme synthetase) in both the liver and the bone marrow, the last enzyme in the 8-enzyme biosynthetic pathway of heme. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and coproporphyrins in the feces.

• An autosomal recessive porphyria that is due to a deficiency of uroporphyrinogen iii synthase in the bone marrow; also known as congenital erythropoietic porphyria. This disease is characterized by splenomegaly; anemia; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of uroporphyrins and coproporphyrins.

• Autosomal dominant disorder due to partial deficiency of ferrochelatase, characterized by an excess of protoporphyrin and a wide variety of photosensitive skin changes.

• Autosomal recessive porphyria characterized by splenomegaly, photosensitivity, hemolytic anemia, and the appearance of red urine in early infancy; results from increased synthesis of uroporphyrinogen i relative to uroporphyrinogen iii in bone marrow normoblasts.

Details

• E80.0 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E80.0 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E80.0 – other international versions of ICD-10 E80.0 may differ.