Chapter 123: Congenital Erythropoietic Porphyria

CONGENITAL ERYTHROPOIETIC PORPHYRIA

Therapeutic Approach

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.

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.

REFERENCES