Is AIP the missing piece in your diagnosis?

Acute porphyrias often remain undiagnosed for more than a decade after first symptoms develop.1

Porphobilinogen (PBG) urine test

A urine test for PBG should be used to confirm a diagnosis of AIP in a symptomatic patient.2

  • The test must be ordered at or near the time of acute symptoms.
  • Urinary PBG level is markedly increased during acute attacks of AIP.

Second‑line testing

If a patient’s PBG level is increased, additional tests should be done. Laboratory findings that can confirm the diagnosis include:2

Urine porphyrin levels (mostly uroporphyrin) markedly increased

Fecal porphyrin levels normal or slightly increased

Plasma porphyrin levels normal or slightly increased

Erythrocyte PBG deaminase levels decreased by ∼50%

Accuracy and speed

are critical in the diagnosis of an acute porphyric attack.2

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AIP Diagnostic Algorithm

This guide employs an index of suspicion for AIP based on a patient’s symptoms and history

Diagnosing AIP / Diagnostic Testing / Family Testing / Differential Diagnosis

References:

  1. Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell M, Bloomer JR, et al. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med 2014;127:1233‑1241.
  2. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the Diagnosis and Treatment of the Acute Porphyrias. Ann Intern Med 2005;142:439‑450.