Hepatoertyropoietic porphyria (HEP) is a rare form of porphyria due to a marked defect in uroporphyrinogen III decarboxylase, the same enzyme affected in porphyria cutanea tarda (PCT). An excess production of porphyrins occurs in both the liver and red blood cells.


Inheritance: autosomal recessive (affected patients are homozygous or complex heterozygous)


Clinical findings

(1) onset during infancy or early childhood of a skin disorder with severe photosensitivity, skin fragility, subepidermal bullae and scarring. A few patients may first present in early adulthood with skin fragility and/or annular plaques in sun-exposed skin.

(2) presence of excess facial hair

(3) erythrodontia

(4) hepatosplenomegaly

(5) hepatic dysfunction later in life

(6) sclerodermoid skin changes may appear over time


Laboratory findings:

(1) elevated uroporphyrins and hepatodecarboxylporphyrins in the urine

(2) elevated zinc protoporphyrin in erythrocytes (not seen in PCT)

(3) presence of isocoproporphyrins and coproporphyrins in the feces

(4) elevated uroporphyrins in the plasma

(5) fluorescence of erythroid precursors in the bone marrow


Some patients may present with pink or red urine.


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