Treatment options for acute hepatic porphyria
Acute hepatic porphyria (AHP) is a group of rare genetic diseases directly affecting specific liver functions, which potentially lead to life threatening complications, long-term pain, and other symptoms affecting quality of life.
The treatment for AHP primarily focuses on managing and preventing acute episodes, which, over time, may help reduce complications.
While there is no cure for AHP, there are ways to manage the symptoms when an acute episode occurs.
Heme forms part of certain molecules containing iron and is an important part of hemoglobin. AHP results from a specific enzyme deficiency in the heme biosynthetic pathway.
Hemin prevents porphyria episodes, which are caused by a buildup of toxins in the liver, including porphobilinogen (PBG) and aminolevulinic acid (ALA). As they build up, they may also circulate throughout the body. The medication works by reducing the number of toxins in the body.
This infusion is the standard of care for acute AHP episodes.
Managing AHP symptoms may include pain medications, antiemetics to relieve nausea and vomiting, and monitoring for low blood sodium levels (hyponatremia).
The hospital typically administers IV glucose at 300 grams (g) per day because it can reduce overproduction of PGB and ALA.
The hospital may use several medications for acute AHP episodes, such as antiemetics (anti-sickness medications), opioid pain management, and anticonvulsants.
Hemin (Panhematin) is the most common treatment for acute AHP and typically follows IV glucose if that has proven ineffective. However, some doctors may prefer to use Hemin right away to avoid waiting for glucose treatment results.
Hemin (Panhematin) is a biologic medication. Traditional drugs, such as aspirin, also called “small molecule” medications, are a mix of chemicals that follow a specific recipe.
Biologics are medications that scientists grow and are made from biological materials, such as proteins. This makes them “large molecule” medications. Hemin specifically is derived from processed human red blood cells.
Many traditional medications come in pill or capsule form, but biologics cannot pass through a person’s digestive system because the stomach would destroy the large protein molecules before they could work.
Therefore, biologics must be administered by injection under the skin or by IV infusion.
Givosiran (Givlaari) is approved by the Food and Drug Administration (FDA) to treat adults with AHP. It helps prevent toxins from building up in the body, which in turn helps prevent AHP episodes.
Givlaari may be prescribed alone or with other medications, such as hemin (Panhematin).
Hemin (Panhenatin) alone has not yet been fully established as a preventive measure.
Females with AHP may experience acute episodes during their menstrual cycle. Taking common birth control medications, such as low dose estradiol or low dose estrogen-progestin, may help to prevent acute episodes.
People following a low-carbohydrate diet, or those following prolonged fasting or crash dieting, may experience acute AHP episodes.
If a person feels they need to better manage their weight, they should consider speaking with a doctor or a registered dietitian, who will help ensure they are following a meal plan that takes into account their specific health needs.
Identifying triggers is an important part of managing acute AHP episodes.
There may not be specific medications that can reduce trigger risk, but knowing what to avoid is the best way to manage health.
People with AHP should receive counseling on the condition’s chronic nature, long-term health implications, and the need for long-term monitoring.
According to the American Gastroenterological Association (AGA), a healthcare team should monitor people with AHP annually for liver disease.
Beginning at age 50 years, people with AHP should be screened for hepatocellular carcinoma, an aggressive form of primary liver cancer. This should be performed via liver ultrasound every 6 months.
Those receiving active treatment for AHP should also be screened annually for chronic kidney disease.
They may also receive monitoring for hypertension (high blood pressure) and neuropathy (muscle weakness or numbness).
Significant advances have been made in the treatment of AHP. In 2019, the FDA approved givosiran (Givlaari), which can significantly reduce episodes by inhibiting a liver gene called ALAS1.
While AHP is a very complex condition, treatment options continue to develop, and your healthcare team can advise on the best options for your circumstances.
Individualized care plans can help people recognize their risk factors, manage symptoms, and get the most appropriate care.