Comparison of the Different Porphyrias

There are many types of porphyria and these can present in a variety of ways.

Parameters:

(1) neurovisceral signs and symptoms

(2) skin changes

(3) acute attacks (associated with severity of neurovisceral disease)

(4) other

Type	Neurovisceral	Cutaneous	Acute Attack	Other
AIP	yes	no	yes	family history
ALAD deficiency	yes	no	yes	occasional lead poisoning
CEP	no	bullae, fragility	no
EPP	rare	urticaria, erythema	rare	family history, liver disease
HCP	yes	bullae, fragility	yes	family history
HEP	rare	bullae, fragility	theoretical	liver disease, erythrodontia, facial hair
PCT	no	bullae, fragility	no	liver disease, may have family history, facial hair, scarring alopecia, may be paraneoplastic
VP	yes	bullae, fragility	yes	family history

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

Acute Porphyria	Urine Porphobilinogen	Urine Amino-levulinic Acid	Other
ALAD deficiency	low or normal	increased	NA
AIP	increased	NA	decreased erythrocyte PBG deaminase
HCP	increased	NA	plasma, urine and fecal porphyrina
VP	increased	NA	plasma, urine and fecal porphyrina

where:

• 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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