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Porphyria Educational Services


PORPHYRIA EDUCATIONAL SERVICES BULLETIN
Vol. 2 No. 19 May 7, 2000
FOCUS: HEPATOERYTHROPOIETIC PORPHYRIA [HEP]

Hepatoerythropoietic Porphyria mostly usually referred to as HEP, is a very rare form of porphyria. HEP is most usually very severe.

HEP is autosomal recessive disorder resulting from a deficiency of uroporphyrinogen decarboxylase.

Uroporphyrinogen decarboxylase deficiency occurs in all tissues and is most conveniently manifests in erythrocytes. Although the degree of deficiency is pronounced,some residual enzyme activity persists. The condition is less severe in cases with more residual enzyme activity.

AS of late 1999 there were fewer than 20 cases of hepatoerythropoietic porphyria (HEP)that have been reported worldwide.

Symptomology of HEP include skin blistering, red urine, and anemia are common. Although HEP is clinically very similar to congenital erythropoietic porphyria, these conditions differ in their patterns of porphyrin accumulation.

The biochemical pattern of porphyrin accumulation of HEP resembles that of porphyria cutanea tarda, except that erythrocyte zinc protoporphyrin is also increased.

Diagnostic features of HEP include elevated fecal or urinary isocoproporphyrin and erythrocyte zinc protoporphyrin.

Phlebotomy may benefit milder cases of HEP. Treatment of more severe cases is similar to that of congenital erythropoietic porphyria.

As an inresting footnote, several of the world's HEP porphyrics are geographical;ly located in Kentucky.