Genetic confirmation of AIP

AIP is an inherited disease. Diagnostic enzymatic and DNA tests are available to identify family members who may be at risk.1

The risk of developing potentially acute and life‑threatening fatal attacks even in asymptomatic carriers, when exposed to possible precipitating factors (drugs, alcohol abuse, etc.), makes it essential to exclude or to confirm the diagnosis of porphyria in all relatives, whenever it has been diagnosed in any family member.2

Every gene carrier should be timely informed about the nature of the disorder and counselled about exposures to avoid and measures to take if symptoms should appear, as well as about the probabilities of propagating potential dangerous mutations in new generations.2

References:

  1. 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.
  2. Ventura P, et al, A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias. Eur J Intern Med 2014, https://dx.doi.org/10.1016/j.ejim.2014.03.011