Acute hepatic porphyria (AHP) is a rare genetic disorder associated with severe abdominal pain and problems with the central nervous system.
These disorders are characterized by problems making a substance called heme. Heme is composed of chemicals called porphyrin, which are bound to iron.
In people with porphyria, the body lacks certain enzymes needed to complete this process of making heme. The accumulation of porphyrin in tissues and blood can cause a variety of symptoms.
It’s a complex disorder, but treatment options are available.
There are also clinical trials for potentially new treatments in which you could participate.
Learn about all your options so you’re in-the-know about the latest treatments for AHP.
In some cases, you may not be getting enough heme to make hemoglobin and carry red blood cells throughout your body.
Hemin is a synthetic form of heme that a healthcare provider can inject into your body if it’s producing too many porphyrins.
Hemin injections can boost hemoglobin. Injections can also increase myoglobin, which helps maintain your heart and nervous system.
Hemin is also available to be given through an intravenous (IV) line. This treatment is usually performed in a hospital setting following an AHP attack.
According to the journal Clinical Advances in Hematology and Oncology, patients in the hospital receive up to 4 milligrams per kilogram of body weight over 3 to 4 days.
Intravenous hemin may also be used as a preventive measure one to four times per month. Your hematologist may provide the IV at their office.
Getting enough carbohydrates helps to ensure that red blood cells are functioning.
If you have low glucose, a naturally occurring element in carbohydrates, your doctor may recommend you receive glucose intravenously.
Milder cases of low blood glucose may be resolved by taking sugar pills.
In some cases, hemin treatments can increase iron levels. Too much iron can trigger attacks.
In the case of AHP, a phlebotomy is used to remove excess iron. This procedure involves drawing out your blood to remove harmful elements.
Your doctor will need to monitor your iron levels with blood testing to make sure they aren’t too high.
A gene therapy called givosiran was approved by the
Given by injection, givosiran was found to have decreased the rate at which toxic byproducts are produced in the liver. This led to fewer AHP attacks requiring hospitalization or urgent healthcare visits.
Hormone fluctuations are common AHP triggers in those with a menstrual cycle. Although fluctuations in hormones are unavoidable, some medications can help if you find your period often triggers AHP attacks.
Altered sex hormone balance, especially increased progesterone, is associated with AHP attacks. Attacks in women are more frequent in the luteal phase of the menstrual cycle. The luteal phase occurs after ovulation and before menstruation.
Gonadotropin-releasing hormone agonists can help in this situation. One example is the medication leuprolide acetate (Lupron Depot).
Aside from treating AHP attacks with hemin, glucose, gene therapies, and other methods, your doctor will suggest you avoid triggers as part of your treatment plan.
Common triggers include:
- alcohol consumption
- low calorie diets or fasting
- excessive protein in the diet
- excessive iron from supplements and food
- hormone medications
- certain antibiotics
- sunlight exposure
Hospitalization is a last resort for severe symptoms of AHP. Your doctor may suggest hospitalization if you experience symptoms such as:
- breathing difficulties
- high blood pressure
- severe pain
At the hospital, your doctor will treat these symptoms and monitor you for complications, such as liver damage and kidney failure. Recurring AHP attacks may lead to chronic pain over time.
Thanks to preventive measures and quick treatments for related attacks, the outlook for AHP has improved over the last few decades. Still, there’s a lot we don’t know about the disorder.
Complications like liver and kidney diseases are possible and can lead to shorter life expectancy and reduced quality of life.
When it comes to your treatment plan, consider talking to your doctor about clinical trials for AHP treatments in your area.
As a participant, you may be able to try up-and-coming treatments that may help your condition. On a broader scale, you could help other people with AHP too.
These trials may provide free treatment, plus compensation.
You can learn more through ClinicalTrials.gov.