The treatment you'll get for acute hepatic porphyria (AHP) depends on your symptoms. No matter which treatment plan you and your doctor decide on, the goal is to ease symptoms and prevent complications.
Treating Acute Attacks
The goal of these primary treatments is to stop the attack as quickly as possible and handle any other symptoms of complications that come with it. You'd likely go to the hospital to get these.
Hemin: Heme is part of hemoglobin -- the protein that carries oxygen from your lungs to the rest of your body. It's critical for several body functions -- like in the liver and muscles. You can find it in red blood cells and bone marrow. Hemin is a form of heme that lowers your levels of porphyrin.
Hemin is the most effective medicine for severe AHP. It’s given through a thin tube (IV catheter) placed in a vein.
Glucose: This sugar also helps lower porphyrin levels. You might take it by mouth at home, but it’s usually put in a vein through an IV at the hospital. Glucose may be the only treatment you'd need for mild symptoms. More often, it helps you feel better until you can get hemin.
Not all hospitals stock hemin, so your doctor may need to order it and have it flown in.
Treating Symptoms and Complications
Pain: An AHP attack can cause severe pain. You may need powerful meds like opioids to keep you comfortable. You might get them through an IV if you can’t take them by mouth. Nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen and naproxen aren’t a good choice. They’re hard on your stomach and could make your symptoms worse.
High blood pressure and a fast heartbeat: Medicines called beta-blockers can help ease these things. They slow your heartbeat. As a result, your blood pressure comes down.
Nausea and vomiting: You’ll get anti-nausea meds. If you aren't able to eat, you may also get fluids and carbs through an IV.
Anxiety and insomnia: These are common because AHP affects your nervous system. A low dose of an anti-anxiety med that your doctor can prescribe may help you feel and sleep better.
Muscle weakness and paralysis: Weak muscles in your lungs can make it hard to take in enough air. You’ll have tests to check how well your lungs work. Extreme weakness of all four limbs and breathing muscles can be life-threatening. Sometimes you may need care in the intensive care unit (ICU) or a machine to help you breathe.
Seizures: You might have these when your sodium levels drop. They may also come solely because of your AHP. Some meds that normally treat seizures may make AHP symptoms worse. A doctor who specializes in porphyria will help decide the best treatment for you.
Most people with the gene changes that cause AHP don’t have symptoms. Certain things have to trigger the disease first. You can’t control some of these, like hormone shifts during puberty. But you have a say in many others. Not everyone with AHP has the same triggers, and yours may change over time.
The most common ones include:
Alcohol: Doctors suggest that all people with acute porphyria avoid it.
Smoking: Regular cigarettes, e-cigs, and marijuana are all potential triggers.
Some medications: Many medicines, including barbiturates, sulfa antibiotics, and birth control pills, can bring on an attack. Before you take any meds, check with your doctor. Be sure to tell emergency department staff you have porphyria, so you don’t get medicine that makes your symptoms worse. And talk to your doctor about getting a medic alert bracelet or card.
Going on a fast or diet: Low-calorie diets, or going a long time with little or no food can provoke attacks. If you want or need to lose weight, work with your doctor to figure out a way to do it safely.
Not eating well: Good nutrition is an important part of managing this condition. A dietitian can help you get the right balance of carbs and nutrients.
Infections and other illnesses: These can trigger an attack or make your symptoms worse. Be sure to treat any infection right away with safe antibiotics and get the vaccines your doctor suggests.
Anemia: Low iron levels could make it harder for your body to make heme.
Hormones: Some women have attacks in the days just before their period. Your doctor may try to prevent this with a hormone that keeps you from ovulating or with hemin IVs.
There are also measures your doctor can take to prevent your attacks or make them happen less often. These include:
Preventive hemin: If you have severe attacks every month, your doctor may try weekly doses of hemin to prevent them. This is usually an option only when other measures haven’t stopped your attacks.
Givosiran (Givlaari): The FDA approved this med for AHP in 2019. You get it as a shot once a month. In clinical trials, people who got Givlaari had fewer attacks. It isn’t for everyone and can cause serious side effects.
Liver transplant: This may be an option if you have severe attacks that other measures haven’t helped. You and your doctor will discuss the risks and benefits of this serious surgery.