Acute intermittent porphyria

If you or a family member has had a genetic testing for acute intermittent porphyria (AIP) and a mutation was found in the HMBS gene, other blood relatives can be tested. Siblings of a person with AIP have a 50% chance of also having AIP. Children of a person with AIP also have a 50% chance of having AIP. Even though someone in the family has AIP, it doesn’t always mean that there will be other people in the family who has it as well.

The American Porphyria Foundation is a great place to start if you are looking for other people with acute intermittent porphyria. You can become a member of the foundation and get connected to people all over the world with the condition. Visit www.porphyriafoundation.com to get started.

It is very rare to have an attack of acute intermittent porphyria before puberty. Usually, people start having symptoms of the condition or attacks in their 30s to 40s.

If you have acute intermittent porphyria, you should see a porphyria specialist. They may also refer to you to a kidney doctor (nephrologist) or a liver doctor (hepatologist).

If you have acute intermittent porphyria, some medications/drugs you should not take are barbiturates, sulfa-containing antibiotics, some antiepileptic drugs, progestagens, and synthetic estrogens.

Mental changes in attacks of acute intermittent porphyria can include insomnia or difficulty sleeping, anxiety, depression, hallucinations, confusion, paranoia, and amnesia or memory loss. It is very rare for these to be the only symptoms of an attack, but it may happen. See your doctor if you have acute intermittent porphyria and are having mental changes.

Acute intermittent porphyria is usually abbreviated to AIP.

Acute intermittent porphyria (AIP) is a condition that can cause sudden, severe attacks of stomach pain that may last for a days to weeks. It is called a ‘porphyria’ because substances called porphyrins build up in the body and can cause the symptoms. Porphyrins are normally used by the body to help cells use oxygen. In AIP, people may also experience mental changes in attacks of acute intermittent porphyria that can include insomnia or difficulty sleeping, anxiety, depression, hallucinations, confusion, paranoia, and amnesia or memory loss.

To understand more about AIP from someone who has the condition, watch this video from the American Porphyria Foundation.

The genetic change makes an enzyme known as hydroxymethylbilane synthase (HMBS) work less than usual. This enzyme is also know as porphobilinogen deaminase (PBGD). When this enzyme is not working well, it can cause a build up of precursors in the liver.

A change/mutation in the gene HMBS causes acute intermittent porphyria. The genetic change makes an enzyme known as hydroxymethylbilane synthase (HMBS) work less than usual. This enzyme is also know as porphobilinogen deaminase (PBGD). This is the only gene known to cause acute intermittent porphyria and is located on chromosome 11.

All of our genes have many changes that do not cause any problems. Sometimes, though, a change in a gene can cause a disease. Having a variant in the gene that causes acute intermittent porphyria means that there is a change in that gene, but we cannot tell if it causes the disease or if it is a normal variant that does not cause disease.

The main symptom of acute intermittent porphyria (AIP) is severe stomach pain. The pain may be in the back or thighs as well. People with AIP can also have nausea, vomiting, fast heart rate, and high blood pressure. There can also be hyponatremia (low sodium levels), seizures, difficulty breathing, and changes in mental status. Mental changes in attacks of acute intermittent porphyria can include insomnia or difficulty sleeping, anxiety, depression, hallucinations, confusion, paranoia, and amnesia or memory loss. The urine of a person having an attack of AIP may be reddish-brown or red, but this does not happen to everyone. These symptoms may last several days or longer if treatment is not received right away.

There is no testing on the newborn screen for acute intermittent porphyria. This is because attacks do not generally occur puberty. Therefore, newborns are not in immediate danger if they have undetected acute intermittent porphyria.

There is a clinical trial for adeno-associated virus based gene therapy for acute intermittent porphyria (AIP) underway in Europe. This means that doctors are using a virus to deliver a working copy of the HMBS gene to the patient’s body to replace the copy that is not working properly. Other than this, there are various other projects currently going on to look for treatments and triggers of AIP attacks.

To learn more about clinical trials, you can search this database.

There are multiple tests your doctor can use to diagnose acute intermittent porphyria (AIP). A urine test to look for high levels of porphobilinogen (PBG) is necessary to diagnose an attack of AIP. A genetic test can then be done to confirm the genetic mutation causing AIP in the gene HMBS. For the genetic tests, usually sequencing is done first, which is where the spelling of the gene is read from start to finish. If no genetic changes were found in the sequencing, deletion/duplication analysis is done, which is where the gene is checked for missing or extra pieces.

Penetrance for HMBS (the gene that causes acute intermittent porphyria) is not completely known. Most experienced porphyria specialists say the penetrance of HMBS changes is 10-20%. This means that only 10-20% of people with changes in HMBS will experience symptoms in their life. In other words 80-90% of people with the condition will not have symptoms. However, studies of entire populations suggest the penetrance might be as low as 1%. Therefore, the exact penetrance is controversial.

Most doctors with experience caring for people with acute intermittent porphyria strongly recommend that you avoid alcohol as much as possible. If it is not possible for you to complete avoid alcohol, it is best that you try to drink as little as possible. Heavy red wines, brandy, and other liqueurs are known to be particularly bad for triggering attacks.

Smoking is a known trigger of acute intermittent porphyria attacks and should be avoided, if possible.

Acute intermittent porphyria (AIP) can be inherited from a parent who has the condition, or it can be new in a child. If the mutation in the HMBS gene causing AIP happen for the first time in a child, it is known as a de novo change. In fact, about 1% of people with AIP do not have parents with AIP.

Having a change in HMBS predisposes a person to acute intermittent porphyria, which gives them a higher chance of having attacks. However, most people with changes in HMBS never have symptoms or attacks of acute intermittent porphyria. Different people who experience acute attacks may not always have the same symptoms.

Some genetic tests specifically look at what are called SNPs (single nucleotide polymorphisms) in the HMBS gene. SNPs are the most common type of genetic variation among people. Each SNP represents a single DNA building block (nucleotide). Most SNPs do not have an effect on the health or development of the individual. However, they can sometimes help determine someone’s response to certain drugs or their risk of developing particular diseases.

A genetic counselor can help with ordering further diagnostic testing and determine which labs in the U.S. conduct testing for porphyria would be best in your situation if testing is appropriate. (Take a look at "Find a Genetic Counselor" in your area http://nsgc.org/p/cm/ld/fid=164).

There is also an excellent organization called the American Porphyria Foundation that has some great resources for people with various types of porphyria. They may be able to assist in determining different potential triggers or how other people avoid them.

Your doctor should keep an eye on your kidney and liver function if you have acute intermittent porphyria, especially if you are over 50 years old. They should also know that you need to avoid certain prescription drugs, such as barbiturates, sulfa-containing antibiotics, some antiepileptic drugs, progestagens, and synthetic estrogens.

You and your doctor can work together to decide the best path to treat your acute intermittent porphyria (AIP). Usually, patients who need liver transplants are those that are having a life-threatening attack, don’t respond to medicines, or have a poor quality of life because of the disease. This is mostly a last resort treatment.

Most people with acute intermittent porphyria will only have 1 or a few attacks throughout their life. About 5% of people with this condition will have ‘recurrent’ attacks, which means more than 4 attacks per year.

It may only take a few days to recover from an attack of acute intermittent porphyria. However, recovery from severe attacks can take weeks to months. Sometimes, long term, or chronic damage like nerve damage and muscle weakness can occur.

Acute intermittent porphyria attacks can last several days to weeks. Most acute intermittent porphyria attacks last less than 2 weeks.

Acute intermittent porphyria (AIP) is inherited in an autosomal dominant manner. This means that AIP happens in people who have a mutation/change in one of the two copies of the gene called HMBS that causes AIP when it does not work.

If you would like to donate money to help support research into acute intermittent porphyria, the American Porphyria Foundation is a good place to start. You can donate to them or look around their website for other organizations that accept donations.

Your doctor can order testing if you or he/she think you have acute intermittent porphyria. He/she may order testing to look for different substances in your urine, feces, and blood to get the most accurate diagnosis. He/she may also do genetic testing or testing of the function of the HMBS enzyme.

There are multiple tests your doctor can use to diagnose acute intermittent porphyria (AIP). A urine test to look for high levels of porphobilinogen (PBG) is necessary to diagnose an attack of AIP. A genetic test can then be done to confirm the genetic mutation in the HMBS gene causing AIP. For the genetic tests, usually sequencing is done first, which is where the spelling of the gene is read from start to finish. If no genetic changes were found in the sequencing, deletion/duplication analysis is done, which is where the gene is checked for missing or extra pieces.

If you are interested in being a part of a clinical trial for treatments for acute intermittent porphyria, clinicaltrials.gov is a great place to start looking. If you search for acute intermittent porphyria, you will find a list of clinical trials that are looking for people to join in.

If you are interested in finding a doctor who specializes in treating patients with acute intermittent porphyria, you can visit the [link url=”http://www.porphyriafoundation.com/content/Find-a-Doctor”]Find a Doctor page on the American Porphyria Foundation?s website. Here, you can select the state in which you want to be treated and choose a doctor from there. This website also lists which cities have experts in porphyrias available.

In most places, acute intermittent porphyria (AIP) is the most common of the acute hepatic porphyrias, which is a group of conditions with similar symptoms to AIP. In Europe (excluding Sweden), AIP occurs in about 0.13 in 1 million people per year. In Sweden, the rates are about 4 times higher. The number of people with latent AIP may be underestimated.

The main reason people have genetic testing for acute intermittent porphyria (AIP) is to find the cause of their AIP so that other family members can be tested. Also, people who have had an attack of AIP before but have not had another in a long time might want genetic testing to make sure they actually have AIP. This can help them make sure they were correctly diagnosed and can give them more information on the chance of having another attack.

Accuracy of the genetic testing may change based on which laboratory is performing the test. However, the testing generally find 98% of genetic mutations. This means that about 2% of people with changes in the HMBS gene will have a negative genetic test.

In general, women seem not to have more attacks during pregnancy. However, it is possible that pregnancy can trigger an attack. Pregnant women with symptoms of acute intermittent porphyria should first be evaluated for other complications of pregnancy. If a woman is having an attack, her doctor should be careful to only treat her with drugs that are not dangerous to the baby, if possible. Hemin infusions appear to be safe in pregnancy.

Attacks of acute intermittent porphyria can be triggered by certain drugs, alcohol, hormones, lack of food or a new diet, and illness.

Women with acute intermittent porphyria (AIP) have attacks more often than men. Also, people with AIP from Sweden are at an increased risk of developing liver cancer. People with AIP may also have different symptoms or triggers.

It is important that you have something that informs people of your acute intermittent porphyria in case of an emergency. This can be a wrist bracelet, a neck pendant, or an information card. This is important because you might not be able to explain that you have acute intermittent porphyria during an emergency.

You do not need a genetic test to diagnose acute intermittent porphyria. Your doctor should be able to diagnose acute intermittent porphyria based on your symptoms and by testing your urine, feces, and blood for molecules or substances that are higher in people having an attack of the disease.

There are other types of porphyrias that have the same symptoms of acute intermittent porphyria. It is sometimes impossible to tell which type of porphyria a person has based on their symptoms alone. These other porphyrias are: hereditary coproporphyria, variegate porphyria, and ALAD deficiency porphyria. Lead poisoning can also have similar symptoms to acute intermittent porphyria. However, lead poisoning causes a decrease in the number of blood cells (anemia), which is not seen in acute intermittent porphyria. The red color of the urine sometimes seen in acute intermittent porphyria attacks can also be due to blood in the urine, eating red beets, eating foods with certain additives, and some drugs.

Even though attacks are rare before puberty, children should be offered testing (with consent of their parents). This gives extra time to learn about the condition and what triggers to avoid as the child grows up, if they have the condition. It also allows fast diagnosis and treatment if an attack does occur. Sometimes, preventative treatment for the attacks can be given.

You can take steps to lower the chance of having an attack of acute intermittent porphyria by avoiding triggers and living a healthy lifestyle. Triggers to avoid include medications not prescribed by your doctor, illegal or street drugs, too much alcohol, smoking, and going long periods of time without eating. A healthy lifestyle includes a balanced diet, regular meal times, visiting the doctor and getting treated for any illnesses, and reducing stress. There are also treatments such as heme therapy that can prevent attacks. You can speak to your doctor to see if it is right for you.

Preventing ovulation in women can prevent attacks of acute intermittent porphyria, since hormones associated with the menstrual cycle can trigger an attack. Also, regular infusions of hemin (usually weekly) can help decrease the risk of attacks. Maintaining a good diet that includes a healthy level of carbohydrates and calories can also help decrease the chance of an attack. In most severe cases, the patient may need a liver transplant to cure the disease but this is the last resort.

One of the known triggers of an attack of acute intermittent porphyria (AIP) is having a low calorie intake or going too long between meals. Because of this, it may not be safe for you to go on a new diet to lose weight if you have AIP. If you have concerns about your weight, you should talk to your doctor and a dietician about how to safely change your eating habits without risking an attack of AIP.

You can learn more about diet and nutrition information for people with AIP here.

While it is possible that an acute attack can be deadly, it is very rare for a person with acute intermittent porphyria to die from an attack. This is because we have good treatments for the most dangerous symptoms. However, death may occur if a person develops liver cancer or if they need a liver transplant and it is not successful.

Female hormones, especially progesterone, are known triggers of attacks of acute intermittent porphyria. Progesterone is found in many hormonal birth controls, like the pill. For this reason, birth control pills with progesterone should be avoided if you have acute intermittent porphyria. Also, long-term birth control medicines that are injected or implanted (like in intrauterine device, or IUD) can be very dangerous and should always be avoided by women with acute intermittent porphyria. You should speak to your doctor about the birth control options that may be right for you.

There is no treatment that can fully stop an attack of acute intermittent porphyria or cure it. However, removing any triggers can be very helpful. For example, stopping any medications that triggered the attack, drinking less alcohol, getting more calories, and treating any infections or illnesses can help stop the attack.

A woman’s menstrual cycle can impact the risk of having an attack. Acute attacks are common in the luteal phase of the menstrual cycle, which occurs right after ovulation and before the woman’s period. In other words, attacks can be common in the middle of a woman’s cycle.

It is possible to have a mutation in both copies of the HMBS gene, the gene that causes acute intermittent porphyria when changed. To date, there have been 5 children reported with mutations in both copies of these genes. These children had severe symptoms that started early in childhood, such as problems with movement, delays in development, and brain differences.

Medicine is often given to help control the pain of an attack, as well as any nausea, vomiting, high blood pressure, fast heart rate, and anxiety. Glucose and carbohydrates are part of the initial treatments to for the disease. Pain medications are usually opiates, like morphine, and may be needed in large amounts. If the attack has caused major breathing problems, support can be given to help the patient breathe better. Also, a medicine called human hemin can be used to make the patient feel better or prevent attacks.

To learn more about the treatments and some side-effects they may cause, check out this website.

Acute intermittent porphyria is also known as ‘Porphobilinogen Deaminase Deficiency’ and ‘PBGD Deficiency’. These other names refer to the enzyme that is decreased in people with acute intermittent porphyria.

People with acute intermittent porphyria may have long-term health problems like kidney failure, liver cancer, and high blood pressure. Liver cancer usually appears after age 54.

Some people having an attack of acute intermittent porphyria may have reddish-brown or red urine (especially if the urine is exposed to air and light). Even if the urine is not discolored, all people having an attack of acute intermittent porphyria will have high levels of porphobilinogen (PBG) in their urine (often 10 to 20 times higher than normal). Your doctor can test for this if you think you are having an attack.

The American Porphyria Foundation is a good resource for connecting with support groups in your area. Visit their [link url=”www.porphyriafoundation.com”]website to get started looking for a support group near you. They also have online forums, including a caretaker support forum, if you would prefer an online support system.

There are no definite genotype-phenotype correlations known yet. However, there is some evidence that mutation that keep at least 10% of the enzyme’s original activity may be less severe than those that make the enzyme work less than 10% of its normal function.

Attacks of acute intermittent porphyria very rarely happen in children. Most people don’t have an attack until after puberty.

Acute intermittent porphyria (AIP) can be divided into two types. Clinically manifesting or overt AIP happens in people who are currently showing symptoms of AIP or who just had an acute attack. Latent or presymptomatic AIP happens in people who have never had symptoms of AIP. Some people with the latent form may never have acute attacks.

A founder mutation is a genetic change that occurs in a specific population of people. These people usually share the same ethnicity, religion, or geographic location. There is a founder HMBS mutation for acute intermittent porphyria in Sweden which originated in Lappland. Therefore, people from Sweden are at increased risk of having a genetic change that causes acute intermittent porphyria.

Attacks of acute intermittent porphyria can range from mild to life threatening. If someone is having an attack, they should seek medical attention to make sure they get the care they need. People who have had serious attacks should also wear a medical alert bracelet so that their condition can be properly treated if an attack occurs.