Acute intermittent porphyria

Below you will find more information about Acute intermittent porphyria from Medigest. If you believe that you are suffering from any of the symptoms of Acute intermittent porphyria it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Acute intermittent porphyria and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Acute intermittent porphyria comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Acute intermittent porphyria is a very rare metabolic disorder that is characterized by an abnormal deficiency of porphobilinogen deaminase enzyme that would result to the buildup of polyphyrins. This medical condition is inherited and is passed on from one generation to another.

Diagnosis

To properly diagnose this disease, several laboratory tests on the patient's urine sample needs to be performed to determine any increase of the heme precursors. Relative of the patient who does not display any symptom can still be identified as carriers through the measurement of the red blood cells and undergoing DNA testing.

Treatment

Attacks of acute intermittent porphyria can be best deflected through the diligent maintenance of the patient's nutrition as well as the avoidance of medications that may trigger the disorder. Heme is also administered to prevent any attacks.

Symptoms and Signs

For patients who inherited and are suffering from AIP, most symptoms usually manifest right after puberty, especially among women who undergo hormonal influences. These symptoms occur as attacks that can go on for hours and possibly stretch for several days. Indicators include severe abdominal pain, vomiting, constipation nausea, urinary retention, palpitation, seizures and hallucinations. Patient may also feel pain around the arms, legs and beck area and well as general muscle weakness.

Causes

Acute intermittent porphyria is acquired through the genes. Studies have shown that this medical condition is remarkably more prevalent in Northern Europe and are known to be more common among women.

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