Acute Intermittent Porphyria (AIP)
Acute Intermittent Porphyria (AIP)
Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder that affects the body’s production of certain chemicals called porphyrins, which help cells produce energy. It is a type of porphyria disorder, meaning the body can't convert porphyrins to heme, a component of hemoglobin. It is an autosomal dominant disorder, meaning a copy of the nonworking gene from only one parent is enough to cause the disorder. Symptoms of AIP can vary and can range from mild to life-threatening.
Causes
AIP is caused by a genetic mutation in the gene responsible for producing the enzyme porphobilinogen synthetase (PBG), which helps the body create porphyrins. This mutation leads to a decrease in the PBG enzyme, which can lead to an excess accumulation of porphyrins in the body. This, in turn, can cause symptoms of AIP.
Risk Factors
The primary risk factor for AIP is genetic inheritance: if one parent has the condition, there is a 50% chance that a child will inherit it. Gender is also a factor; AIP is more common in women than men.
Symptoms
AIP can cause various physical and mental health symptoms, including:
- Abdominal pain and cramps
- Weakness
- Severe constipation
- Nausea and vomiting
- Psychological changes, such as depression
- Seizures
- Irregular heart rate
- Darkening of the urine
Diagnosis
AIP can be diagnosed through a combination of medical and laboratory tests. A physician will analyze an individual’s family and medical history and physical exam results to determine the presence of AIP. They may also order tests to measure blood porphyrin levels, or for gene mutation. Imaging tests such as an ultrasound or CT scan may also be ordered to examine the abdominal area.
Treatment
AIP treatment largely depends on the severity of the condition and the symptoms present. Treatment may involve physical or mental health support, lifestyle changes, medications, and nutritional supplementation. Medications such as hemin and glucose may be used to reduce porphyrin levels in the body, while certain antibiotics may be used to help reduce symptoms. In more severe cases, a liver transplant may be recommended.
Prevention
Currently, there is no known way to prevent AIP. If an individual has a family history of AIP, they should speak to their doctor about genetic testing.