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Following specialists treat Acute Intermittent Porphyria.
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.
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.
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.
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.
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.
Acute intermittent porphyria is treated in the following manner:
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.
Acute intermittent porphyria is an inherited metabolic disorder in which lack of an enzyme called porphobilinogen deaminase results in a build-up of porphyrins in the body. It is a rare disease affecting 1-5 per million of the American population predominantly women between 18-40 years of age.
May 8, 2017