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.