Acute intermittent porphyria (AIP) is a rare condition that causes an enzyme deficiency. This can cause a person to experience abdominal pain, nausea, vomiting, and seizures.
Porphyrias are rare conditions that mainly affect a person’s skin or nervous system. A person typically inherits these disorders. AIP causes a deficiency of the enzyme hydroxymethylbilane synthase (HMBS).
AIP is a type of porphyria that affects approximately
This article explains what AIP is and outlines its symptoms, causes, risk factors, and more.
A note about sex and gender
Sex and gender exist on spectrums. This article will use the terms “male,” “female,” or both to refer to sex assigned at birth. Click here to learn more.
- oxygen transport
- oxygen storage
- oxygen metabolism
- electron transport
AIP is a common, severe form of porphyria. It occurs due to a deficiency of the enzyme HMBS.
This enzyme deficiency can then cause porphyrin precursors to accumulate in the body. Porphyrin precursors are substances that the body converts into heme. When these precursors build up in the body, they cause AIP symptoms.
Common symptoms of AIP include:
- severe abdominal pain
- rapid heart rate
- increased blood pressure
- behavioral changes
- nerve damage
Medical professionals refer to the times when symptoms occur as “attacks.” If a person experiences an attack and does not receive early treatment, the attack could become severe and may be life threatening. If a person experiences an acute AIP attack, they will likely require treatment in a hospital.
Symptoms of acute porphyria may be mild or severe. They can also last a
Common symptoms of acute porphyrias include:
- abdominal pain
- pain in the:
- nausea and vomiting
- skin blisters that develop when a person exposes their skin to sunlight
A person may develop mental changes, including:
People with AIP may experience nerve problems, such as:
They may also develop urinary symptoms, including:
HMBS gene mutations can cause the body to develop an HMBS enzyme deficiency. Mutation of the HMBS gene causes
However, in many cases, the gene mutation alone is not enough to cause a person to experience the symptoms of AIP. Often, the symptoms of AIP occur due to specific triggers. These triggers are additional factors that can cause the symptoms to develop.
Possible triggers of AIP in people with the HMBS gene mutation include:
Certain factors can increase a person’s risk of acute AIP attacks. These
- alcohol consumption
- regular infections
- low caloric intake
- taking certain drugs
If a person is experiencing the symptoms of an AIP attack, they should contact a doctor. A doctor will often
A doctor may also be able to recommend steps a person can take to help prevent a future AIP attack. These steps typically include:
- avoiding medications that may be unsafe for people with AIP
- eating a nutritious, balanced diet and avoiding fasting or extreme diets
- avoiding smoking
- avoiding heavy alcohol consumption
- taking medications that can help reduce the number of future AIP attacks
The reduced amount of these precursors in the body helps reduce a person’s symptoms. This treatment should begin as soon as possible and will typically last for around 4 days.
The only established cure for AIP is a liver transplant. This involves
Complications of AIP
- Hypertension: This is the
medical termfor high blood pressure. Hypertension can increase a person’s risk of heart disease and stroke.
- Chronic kidney disease (CKD): CKD
causesthe kidneys to stop filtering blood effectively. This can cause waste products to build up in the body. CKD can also cause other health problems.
- Mental health: Mental health conditions associated with AIP include:
- Hepatocellular carcinoma (HCC): HCC is
a type ofliver cancer. It occurs when a tumor forms in a person’s liver.
The following are some questions people frequently ask about AIP.
Is porphyria related to lupus?
Medical professionals believe there
What triggers AIP?
If a person has a specific gene mutation, certain things can trigger AIP. These triggers
- hormonal changes associated with puberty
- certain prescribed medications
- certain recreational drugs
- excess alcohol consumption
- dietary changes
AIP is a rare genetic condition that causes a deficiency of the HMBS enzyme. This deficiency causes a toxic precursor to accumulate in the body.
If a person has the genetic mutation that causes AIP, certain factors can trigger the condition’s symptoms. These triggers include hormonal changes, medications, and dietary changes.
Common symptoms of AIP include severe abdominal pain, constipation, a rapid heart rate, and increased blood pressure, among others.
A healthcare professional can treat an AIP attack with IV heme. The only possible cure for AIP is a liver transplant. However, this comes with risks of serious complications, so medical professionals only suggest this treatment if a person has severe AIP.