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.
Specialty: Endocrinology, Clinical Laboratory, Gastroenterology
ICD-10: ,