Cholestyramine resin for erythropoietic protoporphyria with severe hepatic disease: a case report.

[erythropoietic protoporphyria]

Erythropoietic protoporphyria (EPP ) is a rare disorder of heme biosynthesis caused by mutations in the gene encoding the enzyme ferrochelatase . In EPP , deficient ferrochelatase activity leads to the excessive production and biliary excretion of protoporphyrin (PP ). The major clinical features of EPP are photosensitivity and hepatobiliary disease that may progress to severe liver disease , that are caused by the toxicity of PP . EPP -related liver disease has been treated medically or surgically including liver transplantation . We described a 20 -year -old male with severe liver disease who was diagnosed with EPP based on clinical and laboratory findings . He was treated with cholestyramine resin . Six months after the treatment , he was doing well without any abdominal pain or photosensitivity .

Diseases
Validation

Diseases presenting "abdominal pain" symptom

22q11.2 deletion syndrome

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

congenital diaphragmatic hernia

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

focal myositis

liposarcoma

lymphangioleiomyomatosis

malignant atrophic papulosis

pleomorphic liposarcoma

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

typhoid

von hippel-lindau disease

well-differentiated liposarcoma

This symptom has already been validated