Testing for the Erythropoietic and chronic Hepatic Porphyria's
A word of caution please test all patients for the Acute Porphyria's as well. Acute Patients with HCP and VP have been misdiagnosed with an erythropoietic or Chronic hepatic porphyria. Also an AIP/ PCT patient was misdiagnosed initially as having VP, which is not surprising as PCT blisters and VP blisters can look the same. Patients having Dual porphyria's and compound heterozygous porphyria's are well documented. The Acute Porphyria's can have life endangering attacks but it is treatable, and if a patient has a dual porphyria or severe form, such as CEP, they will need medical help very early in life, children with dual porphyria's have died, but there is help for the diseases to save and improve the life of the patient.
Porphyria Cutanea Tarda and HEP
PCT comes in 4 known versions: PCT I, PCT II, and PCT III, and HEP which is a dual PCT.
The signs and symptoms are: Blistering lesions or Bullae, Skin fragility, Scarring,Hyper/ hypopigmentation possible Hypertrichosis.
Test Name:
1.) Erythrocyte Porphyrin, Whole Blood, Fluorometry
is a 50% loss of the UROD enzyme, and the only Autosomal Dominant Erythropoetic porphyria. (protect from light and heat) a decrease is only seen in PCT II.
2.) Uroporphyringen Decarboxylase, Whole Blood (if decreased please test family members)
3.) Porphyrins, Quantitative, Random, Urine includes Porphobilinogen and Aminolevuelenic acid. (protect from light and heat)
* because PCT and VP blistering can look almost identical please test all suspected patients for the Acute Porphyria's as well. Not all VP patients blister. PCT shouldn't have an elevated/positive ALA test (Hindemarsh).
Erythropoietic Protoporphyria (EPP) or X linked Protoporphyria (XLDPP)
The signs and symptoms are: Edema, Sun induced erythema, Acute Painful photodermatitis, Urticaria, and less commonly scabbing.
Test name:
1.) Protoporphyrins, Fractionation, Whole Blood (must be light protected and refrigerated). Also called Erythrocyte Porphyrin Analysis, testing should differentiate total, free, and zinc protoporphyrins.
If positive test family members. EPP is typically discovered in childhood but mild cases have been discovered later in life.
In X Linked Protoporphyria there are increased free and Zinc protoporphyrins (> 40% zinc protoporphyrins).
2.) Please also test Zinc protoporphyrins and evaluate patient for Iron deficiency anemia, heavy metal intoxication, and Anemia of chronic disease. (Caution anemia's are documented in the Acute Porphyria's).
*Genetic testing may not identify X Linked ProtoPorphyria
Congenital Erythropoeitic porphyria (CEP)
The signs and symptoms are: The skin can be so severely affected in CEP, loss of fingers and noses is documented.
The babies may have red urine in the diaper and are extremely sensitive to sun and fluorescent lighting. Skin Blistering, fragility, scarring, hyper/ hypopigmentation and possible hypertrichosis.
The Testing:
1. Urine Porphyrins quantitative (must protect from heat and light)
2. Uroporphyrinogen III synthase (cosynthase) Erythrocytes
3. Erythrocyte Porphyrin (whole blood)
Other factors may trigger the onset of symptoms, however there is not a lot understood about the actual mechanism of disease manifestation certain factors may contribute to the patient becoming symptomatic alcohol consumption, usage of estrogens, and excess iron which can accumulate in the Liver.
Autosomal recessive
EPP (a genetic mutation and a polymorphism) best tested for by testing the protoporphyrin in the plasma, or red blood cells, which can find both EPP or X-Linked Protoporphyria. Sun Light, or Fluorescent light, may trigger redness, pain, and itching. The patients may have gall bladder issues, liver issues, and low iron.
HEP is a dual version of PCT, and CEP is also autosomal dominant very severe and quite rare porphyria.