About Acute Intermittent Porphyria

What is Acute Intermittent Porphyria?

Acute Intermittent Porphyria (AIP) is a rare genetic disorder that affects the body's ability to produce heme, a molecule that helps carry oxygen in the blood. It is caused by a deficiency of the enzyme porphobilinogen deaminase (PBGD). Symptoms of AIP can include abdominal pain, nausea, vomiting, constipation, weakness, confusion, and seizures. In severe cases, it can lead to paralysis and even death. Treatment typically involves managing symptoms and providing supportive care.

What are the symptoms of Acute Intermittent Porphyria?

The symptoms of Acute Intermittent Porphyria (AIP) can vary from person to person, but the most common symptoms include abdominal pain, nausea, vomiting, constipation, and/or diarrhea. Other symptoms may include muscle weakness, confusion, anxiety, seizures, and/or difficulty breathing. In some cases, people with AIP may also experience changes in their urine, such as darkening or reddening of the urine.

What are the causes of Acute Intermittent Porphyria?

Acute Intermittent Porphyria (AIP) is caused by a genetic mutation in the gene that codes for the enzyme hydroxymethylbilane synthase (HMBS). This enzyme is responsible for the production of heme, a molecule that is essential for the production of hemoglobin. When the HMBS gene is mutated, it causes a deficiency in heme production, leading to a buildup of porphyrins in the body. This buildup of porphyrins can cause a variety of symptoms, including abdominal pain, nausea, vomiting, constipation, and neurological symptoms such as confusion, seizures, and paralysis.

What are the treatments for Acute Intermittent Porphyria?

The main treatment for Acute Intermittent Porphyria is to avoid triggers that can cause an attack, such as certain medications, alcohol, and stress. Other treatments may include medications to reduce pain, anticonvulsants to control seizures, and heme therapy to replace the missing enzyme. In some cases, intravenous glucose may be used to reduce the symptoms. In severe cases, a liver transplant may be necessary.

What are the risk factors for Acute Intermittent Porphyria?

1. Genetic predisposition: Acute Intermittent Porphyria is an inherited disorder caused by a mutation in the gene that codes for the enzyme porphobilinogen deaminase (PBGD).

2. Certain medications: Certain medications, such as barbiturates, sulfonamides, and oral contraceptives, can trigger an attack of Acute Intermittent Porphyria.

3. Diet: A diet low in carbohydrates and high in protein can trigger an attack of Acute Intermittent Porphyria.

4. Stress: Stress can trigger an attack of Acute Intermittent Porphyria.

5. Alcohol: Alcohol consumption can trigger an attack of Acute Intermittent Porphyria.

Is there a cure/medications for Acute Intermittent Porphyria?

Yes, there are treatments available for Acute Intermittent Porphyria. These include medications such as heme arginate, glucose, and hematin, as well as lifestyle changes such as avoiding certain triggers and eating a balanced diet. Additionally, some people may benefit from vitamin B6 and iron supplements.