The consequences of not diagnosing erythropoietic protoporphyria

Transfusion therapy for erythropoietic protoporphyria

“…There is an increased incidence of cholelithiasis in patients with EPP, and several cases of fulminant hepatic failure due to cirrhosis with massive PP accumulation have been reported (DeLeo et al, 1976;Mathews-Roth, 1980;Wells, Golitz & Bender, 1980). The two common findings in patients with both EPP and the resulting fatal liver disease are the presence of extremely high PP levels in the RBCs and abnormal liver function test results (Bloomer, 1979;Mathews-Roth, 1980). Our findings lead us to the view that, in the case of a rapidly deteriorating hepatic function, the PP level can be decreased quickly and appreciably with packed cell transfusions.…”

“…Erythema, oedema and thickening of sun-exposed skin are common, while blistering and scarring are rare. EPP is usually considered a mild disease, but the increased incidences of cholelithiasis and fatal liver disease suggest that, at least in some patients, EPP is not a benign condition (Mathews-Roth, 1980). In the past, the treatment of EPP consisted of the administration of antihistamines, topical sunscreens, anti-malarials and vitamins.…”

Porphyrin and Heme Metabolism and the Porphyrias

“…EPP patients (who avoid sun exposure) are prone to vitamin D deficiency, and serum 25‐hydroxy vitamin D levels should be checked and supplemented as needed. EPP patients with no evident liver disease should be monitored with liver enzymes and porphyrin levels (serum and RBC protoporphyrin) at least on a yearly basis, to detect early signs of liver injury (156). Those with known chronic liver disease should also be screened regularly for hepatocellular carcinoma.…”

“…However, a recent study in an autosomal recessive mouse model of EPP, showed no benefit with the use of ursodeoxycholic acid and heme arginate (243). Patients are advised against caloric restriction and should undergo iron replacement only if found to be iron deficient (43, 156, 198, 212, 241).…”

“…However, a recent study in an autosomal recessive mouse model of EPP, showed no benefit with the use of ursodeoxycholic acid and heme arginate (243). Patients are advised against caloric restriction and should undergo iron replacement only if found to be iron deficient (43,156,198,212,241). Chronic therapy with hematin and erythrocyte transfusion is thought to suppress heme production (28,239) (decreases protoporphyrin levels).…”