Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria.

[erythropoietic protoporphyria]

Erythropoietic protoporphyria (EPP ) is an inherited disorder of the heme metabolic pathway that is characterized by accumulation of protoporphyrin in the blood , erythrocytes , and tissues , and cutaneous manifestations of photosensitivity , all resulting from abnormalities in ferrochelatase (FECH ) activity due to mutations in the FECH gene . Protoporphyrin is excreted by the liver , and excess protoporphyrin leads to cholelithiasis with obstructive episodes and chronic liver disease , finally progressing to liver cirrhosis . Patients with end-stage EPP -associated liver disease require liver transplantation . We describe here a 31 -year -old male patient with EPP who experienced acute -on-chronic liver failure and underwent deceased-donor liver transplantation . Surgical and postoperative care included specific shielding from exposure to ultraviolet radiation to prevent photosensitivity -associated adverse effects . The patient recovered uneventfully and was doing well 24 months after transplantation . Future prevention and treatment of liver disease are discussed in detail .

Diseases
Validation

Diseases presenting "year-old male patient" symptom

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

allergic bronchopulmonary aspergillosis

benign recurrent intrahepatic cholestasis

cadasil

coats disease

cohen syndrome

cystinuria

dentinogenesis imperfecta

erdheim-chester disease

erythropoietic protoporphyria

esophageal carcinoma

fabry disease

heparin-induced thrombocytopenia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

liposarcoma

malignant atrophic papulosis

monosomy 21

oligodontia

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

triple a syndrome

waldenström macroglobulinemia

well-differentiated liposarcoma

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