Acute Intermittent Porphyria Questions & Answers

Updated: Jan 13, 2023
  • Author: Thomas G DeLoughery, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Questions & Answers

Overview

What is acute intermittent porphyria (AIP)?

What is the pathophysiology of acute intermittent porphyria (AIP)?

What is the prevalence of acute intermittent porphyria (AIP) in the US?

What is the global prevalence of acute intermittent porphyria (AIP)?

What are the sexual predilections of acute intermittent porphyria (AIP)?

Which age groups have the highest prevalence of acute intermittent porphyria (AIP)?

Presentation

Which clinical history findings are characteristic of acute intermittent porphyria (AIP)?

Which physical findings are characteristic of acute intermittent porphyria (AIP)?

What causes acute intermittent porphyria (AIP)?

DDX

What are the risks of a delayed diagnosis of acute intermittent porphyria (AIP)?

What are the differential diagnoses for Acute Intermittent Porphyria?

Workup

What is the role of lab tests in the workup of acute intermittent porphyria (AIP)?

What is the role of imaging studies in the workup of acute intermittent porphyria (AIP)?

What is the role of genetic mutation analysis in the workup of acute intermittent porphyria (AIP)?

Treatment

How is acute intermittent porphyria (AIP) treated?

What is the role of gene therapy in the treatment of acute intermittent porphyria (AIP)?

Which dietary modifications are used in the treatment of acute intermittent porphyria (AIP)?

Medications

What is the role of medications in the treatment of acute intermittent porphyria (AIP)?

Which medications in the drug class RNAi Agents are used in the treatment of Acute Intermittent Porphyria?

Which medications in the drug class Blood Components are used in the treatment of Acute Intermittent Porphyria?