Key Takeaways

  • Monthly givosiran (Givlaari) injections may help prevent acute hepatic porphyria (AHP) episodes by stopping the buildup of harmful substances in your body, while hemin (Panhematin) infusions administered in a hospital setting are the preferred treatment when acute episodes occur.
  • Identifying and avoiding triggers is essential for managing the condition, including certain medications, alcohol, smoking, physical and emotional stress, hormonal changes, and low calorie diets that may provoke acute episodes.
  • Hospitalization is typically necessary during acute episodes to address severe symptoms like intense abdominal pain, muscle weakness, and seizures, with medical teams monitoring for potential complications such as liver or kidney damage.

Acute hepatic porphyria (AHP) is a group of rare genetic disorders associated with severe abdominal pain and symptoms affecting the central nervous system.

These disorders are characterized by the body’s difficulty producing heme, which is an important compound in hemoglobin. Hemoglobin is a protein found in red blood cells and is responsible for transporting oxygen around the body.

In people with porphyria, the body lacks certain enzymes needed to complete heme production, leading to a buildup of porphyrins. 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.

There are four different types of acute porphyria:

  • acute intermittent porphyria (AIP)
  • hereditary coproporphyria (HC)
  • variegate porphyria (VP)
  • ALA-dehydratase deficiency porphyria (ADP)

Treatment for each AHP is similar and will depend on your individual symptoms.

Givosiran (Givlaari) is approved by the Food and Drug Administration (FDA) for the treatment of AHP in adults. It can help prevent acute AHP episodes.

The medication helps prevent porphyrins and their precursors from building up in your body. This helps prevent acute AHP episodes.

The recommended dosage of givosiran (Givlaari) for AHP in adults is 2.5 milligrams per kilogram of body weight (mg/kg) given once per month. It comes as a single-dose liquid solution and is given by subcutaneous injection, which is an injection just under the skin, in your abdomen, upper arm, or thigh.

Givosiran (Givlaari) may be prescribed on its own or alongside other medications that help manage AHP episodes, such as pain relief, blood pressure medications, or antiemetics (anti-sickness medications).

A hemin (Panhematin) infusion is a synthetic form of heme that a healthcare professional administers when the body produces too many porphyrins.

This treatment is usually performed in a hospital setting following an acute AHP episode, and is the preferred treatment in these instances.

People can receive up to 4 milligrams per kilogram of body weight over 3 to 14 days.

Getting enough carbohydrates is important for AHP, and if you have low glucose levels, which are naturally present in carbohydrates, your healthcare team may recommend intravenous glucose.

Milder cases of low blood glucose may be resolved by taking sugar pills.

Aside from treating AHP episodes, it’s important to identify and avoid triggers as part of your treatment plan.

Common triggers include:

  • alcohol consumption
  • low carbohydrate intake or fasting
  • infections
  • smoking
  • emotional and physical stress

Medications can also trigger acute AHP episodes, and the American Porphyria Foundation (APF) has a searchable database in which you can find the medications you take and ensure they are safe.

Hospitalization is usually required for acute AHP episodes. Your doctor may suggest hospitalization if you experience symptoms such as:

  • breathing difficulties
  • dehydration
  • high blood pressure
  • seizures
  • severe pain
  • vomiting

At the hospital, the healthcare team will treat these symptoms and monitor you for any complications, such as liver damage and kidney failure.

Due to advances in preventive measures and quick treatments for related episodes, the outlook for AHP has improved in recent years, but there’s still a lot experts don’t know about the condition.

Complications like liver and kidney diseases are possible and can lead to a shorter life expectancy and reduced quality of life.

When it comes to your treatment plan, you can consider discussing clinical trials for AHP treatments with your doctor.

As a participant, you may be able to try up-and-coming treatments that may help your condition. On a broader scale, you could also help others with AHP.

These trials may offer free treatment and compensation.

You can learn more through ClinicalTrials.gov.

If you have AHP, you may receive monthly preventive injections to help manage acute episodes.

When acute episodes happen, it’s important to get to the hospital and start treatment as soon as possible.

Identifying and avoiding common triggers is essential to avoiding acute AHP episodes.