TYPE OF PORPHYRIA | CLINICAL SYMPTOMS | ENZYME DEFECT | BIOCHEMICAL INVESTIGATIONS | MANAGEMENT |
---|---|---|---|---|
IAP Inheritance: Autosomal dominant | Skin: None Systemic: Abdominal pain, diffuse pain, hypertension, tachycardia, hyponatremia, muscle weakness, sudden death from arrhythmia Neurologic: Confusion, seizures, sensory loss | PBGD deficiency Type I and III: Decreased erythrocyte PBGD activity Type II: Decreased non–erythrocyte PBGD activity | Urine: Acute—PBG, ALA, uroporphyrin, coproporphyrin Latent—PBG, ALA Dark red urine contains porphobilin, an oxidized product of PBG Fecal and serum: Normal | Avoidance of agents that inhibit ALAD activity (sulfonamides, barbiturates, hormones) Other precipitants: Fever, infection, physiologic stress, surgery, starvation Treatment: IV glucose and hematin with acute attacks |
VP Inheritance: Autosomal dominant among South Africans; mixed skin and neurologic symptoms | Skin: Photosensitivity, chronic bullae and erosions, milia on skin exposed to UV radiation, hypertrichosis, sclerodermoid changes Systemic: Abdominal pain, gallstones, diffuse pain, hypertension, tachycardia, hyponatremia, muscle weakness, sudden death from arrhythmia Neurologic: Confusion, seizures | PPO deficiency | Urine: Coproporphyrin, protoporphyrin Acute—ALA, PBG, and uroporphyrin Fecal: Protoporphyrin, coproporphyrin Serum: Plasma porphyrin (fluoresces at 626 nm) | Avoid alcohol and other precipitants (dapsone, barbiturates, anticonvulsants, sulfonamides, hormones, griseofulvin) Treatment: IV glucose and hematin with acute attacks |
HCP Inheritance: Autosomal dominant (rare) | Identical to IAP and VP Skin: None Other: Hemolytic anemia, risk of hepatocellular carcinoma | Coproporphyrinogen oxidase deficiency | Urine: Coproporphyrin III Acute—ALA, PBG, and uroporphyrin Fecal: Coproporphyrin III Serum: Normal | Avoid precipitants (alcohol, barbiturates, hormones) |
ADP Inheritance: Autosomal recessive (very rare; < 10 cases reported) | Identical to IAP Skin: None | ALAD deficiency | Urine: ALA, coproporphyrin, uroporphyrin Fecal: Coproporphyrin, protoporphyrin Serum: Protoporphyrin | Avoid precipitants (alcohol, physiologic stress) Treatment: IV glucose and hematin with acute attacks |
ADP—ALA dehydratase deficiency porphyria, ALA—aminolevulinic acid, ALAD—ALA dehydratase, HCP—hereditary coproporphyria, IAP—intermittent acute porphyria, IV—intravenous, PBG—porphobilinogen, PBGD—porphobilinogen deaminase, PPO—protoporphyrinogen IX oxidase, VP—variegate porphyria.
Data from Sassa,1 Puy et al,2 Poblete-Gutiérrez et al,5 and Köstler and Wollina.7