Acute Intermittent Porphyria

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Acute Intermittent Porphyria
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Specialty scores for Acute Intermittent Porphyria

Overview

Acute intermittent porphyria (AIP) is one of the hereditary hepatic porphyrias. It is an autosomal dominant condition which means that Acute intermittent porphyria is inherited from one of the affected individual’s parents.

Acute intermittent porphyria belongs to a group of conditions (porphyria) where a genetic mutation causes enzyme deficiencies that result in the inability of porphyrin to convert to heme, an important protein needed for the production of hemoglobin.

Epidemiology

Acute intermittent porphyria is the most common of the acute porphyrias and, according to European studies, the prevalence of this specific condition is 1 in 20,000 people.

Etiology

AIP occurs due to a genetic mutation which causes a deficiency in the enzyme porphobilinogen deaminase (PBGD), previously known as uroporphyrinogen 1-synthase.

A deficiency in PBGD alone is not enough to cause Acute intermittent porphyria, so other causative factors are thought to be involved. These include dietary habits, hormonal changes and drug use.

Signs and Symptoms

Most people who are diagnosed with Acute intermittent porphyria don’t develop any signs and symptoms but if they do occur, this will happen after puberty (especially in females).

Acute intermittent porphyria can cause signs and symptoms that include severe abdominal pain, nausea, vomiting, constipation, rapid heartbeat, arm, leg or back pain, confusion, convulsions, hallucinations, muscle weakness and urinary retention.

The skin is not affected in Acute intermittent porphyria.

Diagnosis

The specific diagnosis of Acute intermittent porphyria will be suspected through the presence of elevated levels of certain porphyrins, such as porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) in blood and urine samples. These porphyrins indicate that there’s an acute porphyria present but not Acute intermittent porphyria specifically.

In order to diagnose Acute intermittent porphyria, the enzyme PBGD will be deficient in normal red blood cells. Unfortunately, PBGD levels are not reduced in the red blood cells of all acutely ill patients with Acute intermittent porphyria. Deficient levels of PBGD may be found in the liver and other tissues of the body.

The gold standard for making the diagnosis of Acute intermittent porphyria is by comparing the genetic mutation, which affects the PBGD enzyme, with those of immediate family members of the patient who are known with the condition. This is because everyone in a given family will have the exact same type of mutation.

Management

Acute intermittent porphyria is treated in the following manner:

  • Any medications which may be causing an acute attack need to be stopped immediately.
  • Intravenous glucose and oral carbohydrates are given to the patient in order to suppress the activity of the disease.
  • The patient is given intravenous fluids, especially if they have been vomiting, in order to prevent dehydration.
  • Symptoms such as pain, nausea and vomiting need to be managed with the appropriate medication.
  • Infections and other illnesses which may have caused an acute attack need to be managed immediately.
  • Panhematin or heme arginate are medications that are administered to the affected patient if they have an increased level of PGB in their urine. These medications can also be prescribed for patients who suffer from frequent porphyria attacks.

It’s important for patient with Acute intermittent porphyria to consult with a dietician to set up a healthy eating plan that consists of an appropriate amount of carbohydrates. These patients should also make sure to avoid using medications that can trigger acute attacks.