CONGENITAL ERYTHROPOIETIC PORPHYRIA
Congenital erythropoietic porphyria (CEP) is a rare, autosomal recessive porphyria resulting from inherited deficiency of uroporphyrinogen III synthase (UROS). CEP is characterized by subepidermal bullous lesions affecting light-exposed areas, such as the dorsal hands, fingers, and face, often leading to scarring and areas of hyper- and hypopigmentation. Skin damage is often delayed and chronic. Porphyrins are markedly elevated in erythrocytes, plasma, and urine. Avoidance of sunlight, skin trauma, and infections can prevent severe scarring and loss of facial features and digits. Hydroxyurea to reduce erythropoiesis and porphyrin production may be considered. Severe anemia may require erythrocyte transfusions, which also suppresses erythropoiesis. Hematopoietic stem cell transplantation is curative and is the treatment of choice for young patients with severe disease. Iron reduction has recently been reported to be beneficial in some patients, and deserves further study especially in patients without anemia.1 See Table 123-1.
++ Table Graphic Jump Location Table 123-1Congenital Erythropoietic Porphyria Treatment Table ||Download (.pdf) Table 123-1 Congenital Erythropoietic Porphyria Treatment Table
|MEDICATION NAME ||INDICATION ||MECHANISM OF ACTION ||DOSING ||ADVERSE EFFECTS ||SUGGESTED MONITORING ||LEVEL OF EVIDENCE (REFERENCE) |
|Lifestyle Modification |
|Protection from sunlighta ||Photosensitivity due to CEP ||Reduced light exposure || |
Impaired quality of life
Vitamin D deficiency
|Progress of skin damage q3-6mo ||IV2 |
|Systemic Therapy |
|Hydroxyurea (may be combined with erythrocyte transfusion) ||CEP ||Decreased erythropoiesis and porphyrin production ||Limited data available ||Neutropenia, thrombocytopenia, infection ||Porphyrins in erythrocytes, plasma and urine, CBC, BMP, LFT, ferritin, frequencies not defined ||III3 |
|Procedural Therapy |
|Erythrocyte transfusion (may be combined with iron chelators) ||CEP with severe anemia || |
Correction of anemia
Decrease erythropoiesis and porphyrin production
|As needed to correct anemia || |
|Porphyrins in erythrocytes, plasma and urine, CBC, BMP, LFT, ferritin, q3-6mo ||III4 |
|Hematopoietic stem cell transplantation ||CEP, severe, in childhood ||Correction of UROS enzymatic defect ||Follow standard protocol ||Infections and other complications of transplantation and immunosuppression ||Porphyrins in erythrocytes, plasma and urine, CBC, BMP, LFT, ferritin, q3-6mo ||III2 |
Levels of evidence are based on the Journal of the American Academy of Dermatology guidelines: level IA evidence includes evidence from meta-analysis of randomized controlled trials; level IB evidence includes evidence from ≥1 randomized controlled trial; level IIA evidence includes evidence from ≥1 controlled study without randomization; level IIB evidence includes evidence from ≥1 other type of experimental study; level III evidence includes evidence from nonexperimental descriptive studies, such as comparative studies, correlation studies, and case control studies; and level IV evidence includes evidence from expert committee reports or opinions or clinical experience of respected authorities, or both.
et al. Identification of novel UROS mutations in a patient with congenital ...