There are many types of porphyria and these can present in a variety of ways.
(1) neurovisceral signs and symptoms
(2) skin changes
(3) acute attacks (associated with severity of neurovisceral disease)
occasional lead poisoning
family history, liver disease
liver disease, erythrodontia, facial hair
liver disease, may have family history, facial hair, scarring alopecia, may be paraneoplastic
AIP = acute intermittent porphyria
ALAD deficiency = delta-aminolevulinic acid dehydratase deficiency
CEP = congenital erythropoietic porphyria
EPP = erythropoietic protoporphyria
HCP = hereditary coproporphyria
HEP = hepatoerythrocytic porphyria
PCT = porphyria cutanea tarda
VP = variegate porphyria
Urine Amino-levulinic Acid
low or normal
decreased erythrocyte PBG deaminase
plasma, urine and fecal porphyrina
• AIP usually has normal plasma porphyrins and no increase in fecal porphyrins.
• Both HCP and VP will have increased coproporphyrinogen III in the urine.
• HCP will have coproporphyrinogen III as the key porphyrin in the feces while VP will have protoprophyrinogen IX as the key porphyrin.
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Specialty: Endocrinology, Clinical Laboratory, Gastroenterology