Erythropoietic protoporphyria 10 years experience

Environmental chemical exposures and disturbances of heme synthesis.

“…In VP, one small case series reported the lowest values of urine ALA, PBG, uroporphyrin, and coproporphyrin in acute attacks to be 9,12,190, and 27 times the mean control values, respectively (26), which was consistent with the higher average values reported in a larger series (27). In reports of the cutaneous porphyrias, urine uroporphyrin in PCT increased to about 10 to 375 times normal in over 300 reported cases (except in one case (59), where a single value was within normal range) (60)(61)(62)(63)(64)(65)(66)(67)(68)(69)(70) (31,65,71), with the exception of a single patient in whom it was elevated by only a factor of 1.4 (31). Finally, in reports of the less common (autosomal-recessive) cutaneous porphyrias, urine porphyrins in CEP were 20 to 60 times normal (7) and in HEP, urine uroporphyrin increased by at least 20-fold and erythrocyte porphyrins increased by 5-to 10-fold (28,29,72).…”

Reversion of hepatobiliary alterations by bone marrow transplantation in a murine model of erythropoietic protoporphyria

“…3,[32][33][34][35] However, when biliary secretion, the only route for protoporphyrin, does not keep pace with protoporphyrin production in the bone marrow or liver, progressive accumulation of protoporphyrin occurs, leading to cellular damage, cirrhosis, and rapidly to liver failure. There are 2 main reasons for the alterations of the hepatobiliary system: one is the actual toxicity resulting from the hepatic accumulation of porphyrins, as shown by abnormal liver tests and nonspecific histological alterations such as excess of fat deposition with some degree of fibrosis, sometimes progressing to cirrhosis.…”

Environmental Chemical Exposures and Disturbances of Heme Synthesis

“…Facial hypertrichosis is also common. The pattern of EPP differs substantially and is generally less severe than in the other cutaneous porphyrias; it is characterized by acute photosensitivity manifesting as pain, pruritus, and erythema with exposure as short as minutes, and generally without vesiculobullous lesions or scarring unless sun exposure is prolonged (30,31). Liver injury is usually not found with the cutaneous porphyrias other than in some patients with EPP, in which case it can be severe and potentially fatal.…”