Name
ERYTHROPOIETIC PROTOPORPHYRIA
DESCRIPTION
DETAIL
AUTOSOMAL DOMINANT DISEASE* PROTOPORPHYRIN LEVELS - INCREASED IN BONE MARROW, URINE, FECES, CIRCULATING ERYTHROCYTES, PLASMA * URINARY PORPHYRINS & PORPHYRIN PRECURSOR LEVELS - NORMAL * FERROCHELATASE ACTIVITY IN CULTURED LYMPHOCYTE OR FIBROBLASTS IS DECREASED * DNA DIAGNOSIS BY MUTATION ANALYSIS IS POSSIBLE
TYPENOTES
TT : ORAL BETA CAROTENE ( 120 - 180 MG / DAY ) IMPROVES TOLERANCE TO SUN LIGHT. DOSE ADJUSTMENT IS NEEDED TO MAINTAIN SERUM CAROTENE LEVELS AT 10 - 15 MICRO MOL/L * CHOLESTYRAMINE OR ACTIVATED CHARCOAL ORALLY ABSORB PORPHYRINS * SPLEENECTOMY IF HEMOLYTIC ANEMIA WITH SPLEENOMEGALY IS PRESENT. * - I.V. HEME IS MORE EFFECTIVE THAN I.V. GLUCOSE & RESPONSE TO HEME THERAPY IS REDUCED IF DELAYED. 3 - 4 MG OF HEME, IN THE FORM OF HEMATIN, HEME ALBUMIN, HEME ARGINATE MAY BE INFUSED DAILY FOR 4 DAYS
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
BONE MARROW ASPIRATION, COMPLETE BLOOD COUNT