| Table 3-14 Types of Porphyria |
| | Inheritance/Defect | | Labs | | Description | | Treatment |
| Congenital Erythropoietic Porphyria (CEP) (Gunther’s disease) |
| | AR
Uroporphyrinogen III cosynthase
{CEP: Colorless (anemia), Erythrodontia, Photosensitivity
UTC (uro three cosynthase): Ur Teeth r Colored} | | Urine: ++ uro/copro
Stool: ++ copro
RBC: + uro
Plasma: + fluoresce | | Extreme photosensitivity (bullae with subsequent mutilated scarring), hypertrichosis, erythrodontia (red fluorescent teeth), hemolysis, red urine (stains diapers), ↑ risk skin CA | | Light avoidance, transfusions for anemia, ± bone marrow transplantation (BMT), ± splenectomy |
| Erythropoietic Protoporphyria (EPP) |
| | AD
Ferrochelatase
{EPP: enzyme starts with F} | | Urine: normal levels
Stool: ++ proto
RBC: ++ proto
Plasma: ± fluoresce | | Photosensitivity with burning, heals with waxy scars, porphyrin gallstones, hepatic damage | | Light avoidance, oral β-carotene, monitor liver |
| Porphyria Cutanea Tarda (PCT) |
| | AD (familial form) or acquired
Uroporphyrinogen antimalarial agent decarboxylase (UD)
{PCT – UD: Urine Dazzles pink (fluoresce with Wood’s light)} | | Urine: ++ uro > copro
Stool: + isocopro
RBC: normal levels | | Tense bullae, erosions, milia and scarring on sun-exposed skin, hypertrichosis (temples), iron overload, scleroderma-like changes, facial hyperpigmentation
{Triggers: alcohol, HCV, estrogen, polychlorinated hydrocarbons, iron overload (hemochromatosis, C282Y gene), HIV} | | Phlebotomy every 2 weeks, oral antimalarial agent |
| Acute Intermittent Porphyria (AIP) |
| | AD
Porphobilinogen infusion deaminase (PBD)
{AIP-PBD: Abdomen Is Painful, Please Barbiturates D/C} | | Urine: + ALA, PBG,
Stool/RBC/plasma: all normal levels | | NO skin findings; neurologic and psychiatric findings w/ ↑ abdominal pain
{Triggers: drugs (barbiturates), stress, fasting, alcohol, hormonal changes, infections} | | Remove trigger, glucose loading, hematin infusion |
| Variegate Porphyria (VP) |
| | AD
Protoporphyrinogen during acute attacks oxidase (PPO) | | Urine: + ALA/PBG
Stool: + proto, copro
Plasma: + fluoresce | | Overlap between AIP and PCT
{VP-PPO: ViPs have Pink Plasma Optimized at 626 nm (fluoresces)} | | Same treatment for AIP during acute attacks |
| Hereditary Coproporphyria |
| | AD
Coproporphyrinogen prophyria oxidase (CPO) | | Urine: ALA, PBG,
Stool: + copro, proto
RBC: normal level | | Acute attacks similar to mild version of AIP; may have skin findings (mimics PCT) | | Same as variegate prophyria |
| Hepatoerythropoietic Porphyria |
| | AR
Uroporphyrinogen decarboxylase | | Urine: + uro
Stool: + uro, copro
RBC: + proto | | Overlap between PCT and CEP | | Photoprotection
(phlebotomy NOT effective) |
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| | | | | | | | |
| | | | | | | | | Uro: uroporphyrinogen Copro: coproporphyrinogen Isocopro: isocoproporphyrinogen
Proto: protoporphyrinogen ALA: aminolevulinic acid PBG: porphobilinogen | | | | | | | | |
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