Porphyria Educational Services

PORPHYRIA EDUCATIONAL SERVICES BULLETIN
Vol. 2   No. 9                                        February 27, 2000
FOCUS:   Congenital erythropoietic porphyria.

Congenital erythropoietic porphyria (CEP) is one of the rarest
autosomal-recessive disorders of the porphyrin metabolism.

CEP is caused by the homozygous defect of uroporphyrinogen III
cosynthase.

High amounts of uroporphyrin I accumulate in all cells and tissues,.
It is found that this is  reflected by an increased erythrocyte porphyrin
concentration.  There is found  an excretion of high porphyrin amounts
in urine and feces.

Researchers at the University of Dusseldorf in Germany have found that
dermal deposits of uroporphyrin frequently induce a dramatic phototoxic
oxygen-dependent skin damage with extensive ulcerations and mutilations.

Typical internal syptoms include  splenomegaly and hemolytic anemia.

 Researchers also noted that skeletal changes such as osteolysis and
calcifications are frequent.

 Up to date 130 cases of CEP have been confirmed and recorded.

The Dusseldorg researchers  note that splenectomy and erythrocyte
transfusions showed some beneficial effect in helping CEP patients.

 Bone marrow transplantation has been  performed in some patients. In
addition  stem cell transplantation has been tried with some patients.

Todate the best.therapy for CEP patients is the avoidance of sunlight.