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Clinical HEP
Inheritance
Autosomal dominant; uroporphyrinogen (UROGEN) clecarboxylase gene on 1p34
Prenatal
DNA analysis
Incidence
Very rare; less than 20 case reports; M=F
Age at Presentation
Usually 1 year old
Pathogenesis
UROGEN clecarboxylase markedly deficient due to a homozygous or compound heterozygote mutation in the UROGEN decarboxylase gene
Clinical
Skin
Similar to CEP with severe photosensitivity; Photosensitivity diminishes with age

Hematologic
Hemolytic anemia

Gastrointestinal
Splenomegaly

Genitourinary
Dark urine at birth
DDx
CEP
Other porphyrias
Lab
Plasma porphyrin level and fluorescence spectrum

Increased protoporphyrin in red blood cells (EP with increased uroporphyrin in red blood cells);

increased urinary uroporphyrin, increased fecal coproporphyrin

CBC
Management
Referral to dermatologist avoidance of sun exposure, photoprotect with physicalblock sunscreens, hats, clothing Referral to gastroenterologist, hematologist if symptomatic
Prognosis
Normal life span