Acute Intermittent Porphyria (AIP)
Description
Acute Intermittent Porphyria (AIP) is a rare genetic disorder that affects the body‘s ability to process certain proteins. This can lead to a buildup of harmful substances in the body, causing a variety of symptoms, including abdominal pain, nausea, vomiting, and neurological problems. In this blog post, we‘ll delve into the details of AIP, exploring its causes, symptoms, diagnosis, management, and how individuals can thrive despite this condition.
Genes Involved
AIP is caused by a mutation in the gene that provides instructions for making the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). This enzyme plays a crucial role in the heme production pathway. There are several different mutations that can cause AIP, and the severity of the disease can vary depending on the specific mutation.
Recognizing the Signs and Symptoms
The signs and symptoms of AIP can vary from person to person, and they often appear suddenly. Some common symptoms include:
- Abdominal pain: This is often the most prominent symptom and can be severe and debilitating.
- Nausea and vomiting: These symptoms can be intense and contribute to dehydration.
- Constipation: A change in bowel habits is common.
- Muscle weakness: This can range from mild to severe and affect the limbs, back, and neck.
- Mental changes: These can include confusion, disorientation, hallucinations, and seizures.
- High blood pressure: This can be a serious complication of AIP.
- Rapid heartbeat: This can also be a sign of a more serious complication.
- Dark urine: This is due to the buildup of porphyrin pigments in the urine.
- Red-colored stool: This can also be caused by the buildup of porphyrin pigments.
- Increased sensitivity to sunlight: This can lead to skin rashes and blisters.
Causes
AIP is an inherited disorder, meaning it is passed down from parents to their children. If one parent carries the gene mutation, there is a 50% chance that their child will inherit the condition. However, not everyone who inherits the AIP gene will develop symptoms. Some individuals may have a milder form of the disorder, while others may not experience any symptoms at all.
Inheritance/recurrence risk
AIP is an autosomal dominant disorder, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. If one parent has AIP, there is a 50% chance that each child will inherit the condition.
Even if a child does not inherit the AIP gene, they still carry the gene mutation and can pass it on to their children.
