E80.0

Billable

Hereditary erythropoietic porphyria

HCC Category Mapping

V28HCC 50 — Glycogen/Amino-Acid/Other Metabolic Disorders

0.289

V24HCC 23 — Other Significant Endocrine and Metabolic Disorders

0.230

ESRDHCC 23 — Other Significant Endocrine and Metabolic Disorders

0.000

RxHCCHCC 43 — Other Significant Endocrine and Metabolic Disorders

0.000

What This Code Means

A rare inherited blood disorder causing severe light sensitivity, blistering skin, and red-colored urine from birth or early childhood.

Coding Tips

•Document severity and presence of photosensitivity complications
•Code associated skin damage or infections separately

Clinical Significance

Hereditary erythropoietic porphyria (Gunther disease) is the rarest and most severe cutaneous porphyria, caused by deficiency of uroporphyrinogen III synthase. It presents in infancy with severe photosensitivity causing blistering, scarring, and mutilation of sun-exposed skin, hemolytic anemia, splenomegaly, and red-brown staining of teeth (erythrodontia).

Documentation Requirements

✓Provider diagnosis of hereditary erythropoietic porphyria or congenital erythropoietic porphyria
✓Markedly elevated urinary and fecal uroporphyrin and coproporphyrin levels
✓Clinical manifestations: severe photosensitivity, skin blistering and scarring, erythrodontia, hemolytic anemia
✓Splenomegaly assessment
✓Genetic testing showing UROS gene mutations if performed
✓Sun protection measures and management plan (hematopoietic stem cell transplant consideration)

Commonly Confused Codes

E80.1 — Porphyria cutanea tarda: much more common, acquired, milder cutaneous porphyria in adults E80.20 — Unspecified porphyria: avoid when the specific type is documented E80.21 — Acute intermittent porphyria: hepatic porphyria with neurovisceral crises, not erythropoietic L56.0 — Drug phototoxic response: photosensitivity in porphyria is metabolic, not drug-induced

Code Hierarchy

└E80Disorders of porphyrin and bilirubin metabolism └E80.0Hereditary erythropoietic porphyria

└E80.0Hereditary erythropoietic porphyria