Epidemiologia
- Raro, comum na Índia
Clinical presentation
- CEP - “colorless” (anemia), erythrodontia, photosensitive (hence “CEP” like the name)
- Severe mutilation of the hands due to scarring
- Erythrodontia (red teeth)
- Hemolytic anemia
Treatment:
- Bone marrow transplant
- Splenectomy
- Hypertransfusion can reduce porphyrin overproduction by “slowing down” the bone marrow
- Hematine, EPO, hydroxyurea
- Oral charcoal to interfere with the enterohepatic circulation of porphyrins (60g 3x/day in adult)
- Granules coated with a saliva resistant substance to prevent from staining the tongue
- Associated with methylycellulose to correct the constipation
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