Clinical Guidance

Most individuals with congenital erythropoietic porphyria (CEP) experience severe cutaneous photosensitivity in early infancy; the first manifestation is often pink-to-dark red discoloration of the urine. Hemolytic anemia is common and can be mild to severe, requiring chronic erythrocyte transfusions in some. The phenotypic spectrum ranges from severe (nonimmune hydrops fetalis) to milder disease (adult-onset with isolated cutaneous manifestations) . (See for variants that correlate with disease severity.) Skin. Cutaneous photosensitivity is present at birth or in early infancy and is characterized by blistering and increased friability of the skin over light-exposed areas. Bullae and vesicles are filled with serous fluid and are prone to rupture.

Diagnostic Criteria

No consensus clinical diagnostic criteria for congenital erythropoietic porphyria (CEP) have been published. Suggestive Findings Congenital erythropoietic porphyria (CEP) should be suspected in individuals with the following clinical and laboratory findings and family history. Clinical findings • Nonimmune hydrops fetalis • Signs of congenital erythropoietic porphyria • Pink-to-dark red discoloration of the urine (pink or dark red urine-stained diapers are often the first sign in infants) • Hemolytic anemia • Severe cutaneous photosensitivity with onset usually in infancy or early childhood • Blisters and vesicles in light-exposed areas, which are prone to rupture and infection • Scarring and deformities (photomutilation) of digits and facial features, caused by recurrent blistering, infections, and bone resorption • In light-exposed areas: friable skin, skin thickening, hypo- and hyperpigmentation • Reddish-brown discoloration of teeth (fluoresce on exposure to long-wave ultraviolet light), also called erythrodontia • Corneal ulcers and scarring • Hypertrichosis of the face and extremities Laboratory findings include markedly increased levels of uroporphyrin I and coproporphyrin I isomers in erythrocytes, urine, or amniotic fluid as well as coproporphyrin I in stool . Table 1. Biochemical Characteristics of Congenital Erythropoietic Porphyria

Management Guidelines

A management algorithm for congenital erythropoietic porphyria (CEP) has been published .

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with congenital erythropoietic porphyria (CEP), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Surveillance Guidelines

Monitor the following:

• Hematologic indices including iron profile, reticulocyte count, and bilirubin to assess hemolysis every six months

Note: Individuals receiving transfusion therapy need closer monitoring.