What are specific porphyria syndromes?

Updated: Aug 31, 2020
  • Author: Brenda Chiang, DO; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Acute intermittent porphyria

AIP is an autosomal dominant disease that results from defects in the enzyme porphobilinogen-deaminase. [9, 10, 11, 12]  Episodes of AIP are marked by abdominal pain, psychiatric symptoms, and neuropathies, but not cutaneous involvement. Attacks can be precipitated by certain lipophilic drugs (see the Drugs to Avoid section) or fasting; mild attacks may respond to high doses of glucose. [13]  

Aminolevulinic acid dehydratase (ALAD) deficiency porphyria/Doss porphyria

Aminolevulinic acid dehydratase (ALAD) deficiency porphyria, also known as Doss porphyria, is extremely rare. [14]  Abdominal pain and polyneuropathy are typical of this syndrome. Urinary ALA and coproporphyrin are markedly increased. Molecular genetic studies of the ALAD gene reveal the mutated nucleotides. In some reported cases, the acute porphyria syndrome developed while the patient received pharmacologic doses of erythropoietin, which resolved when the drug was stopped, which suggests that by stimulating heme synthesis, erythropoietin may unmask an enzyme deficiency resulting in the clinical expression of ALAD porphyria. [15]  

Lead is a potent inhibitor of ALAD. Lead poisoning may produce a clinical picture that mimics ALAD deficiency porphyria, or may unmask occult ALAD deficiency porphyria; this condition is termed plumboporphyria. [16]

Hereditary coproporphyria

Hereditary coproporphyria results in most cases from half-normal activity (50%) of coproporphyrin oxidase. [17] The disease is an acute hepatic porphyria that is characterized by abdominal pain, neuropsychiatric symptoms, and cutaneous photosensitivity. [18] In rare homozygous cases, enzyme activity decreases to < 10% and the term harderoporphyria is used. [19]


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