When you have acute hepatic porphyria (AHP), getting on the right treatment is important. AHP is a serious condition that causes attacks of belly pain and other symptoms. Some people have frequent, severe attacks. Others have only a few attacks.
AHP isn't curable, except for with a liver transplant in severe cases. But it is treatable with medicine and lifestyle changes. Getting diagnosed and started on treatment quickly, plus avoiding your triggers, can stop these attacks and help prevent serious complications like high blood pressure, paralysis, and kidney failure.
How Do Doctors Treat AHP?
The first part of AHP treatment is to figure out what triggers your symptoms and then avoid them. The second part is to take medicines that reduce the number of attacks you get, and manage your symptoms when you do have an attack.
AHP has four types:
- Acute intermittent porphyria (AIP)
- Aminolevulinic acid dehydratase deficiency porphyria (ALAD)
- Variegate porphyria (VP)
- Hereditary coproporphyria (HCP)
The AHP treatment your doctor prescribes will depend on which type you have and how severe it is.
During attacks you'll probably need treatment in a hospital to manage your pain as well as symptoms like high blood pressure, nausea, vomiting, and electrolyte imbalances.
Avoiding Your Triggers
Gene changes cause AHP, but certain environmental factors set off bouts of symptoms. You can prevent attacks or reduce the number of attacks you get by avoiding your triggers.
Don't take medicines that can cause AHP symptoms. These include carbamazepine (Tegretol), phenobarbital, phenytoin (Dilantin), and sulfonamide antibiotics. Your doctor can give you the complete list of possible triggers so you can avoid them.
Practice healthy habits. Drink alcohol not at all or only in moderation (no more than one drink a day for women and two a day for men). Don't use recreational drugs like marijuana. If you smoke tobacco products, use cessation techniques like nicotine replacement to help you quit. Eat a balanced diet. Avoid extreme or fad eating plans that require you to dramatically cut calories or carbohydrates.
Stay up-to-date on your vaccinations. Ask your doctor which vaccines you need. If you do get an infection, treat it promptly.
Manage stress. Find a relaxation method that calms your mind and body.
Use sun protection. Some types of AHP make your skin extra sensitive to the sun. Try to stay inside during the hours when ultraviolet rays are strongest, between 10 a.m. and 4 p.m. When you do have to be outside, wear sun-protective clothing, a wide-brimmed hat, and sunscreen with an SPF of at least 30.
Acute Treatments
The goal of these treatments is to stop an attack and relieve your symptoms until it goes away. You may need treatment in a hospital for serious AHP symptoms like seizures, trouble breathing, severe pain, and hallucinations.
Intravenous (IV) hemin (Panhematin). When you have AHP, you're missing an enzyme your body needs to make heme. Heme is a part of hemoglobin, a protein that carries oxygen in your blood. Alpha-aminolevulinic acid (ALA) and porphobilinogen (PBG) are other substances that go into making heme. Doctors call them porphyrin precursors. ALA and PBG are toxic to your body. When you can't make heme, these substances build up in your liver and cause symptoms.
Hemin is a salt that comes from red blood cells. It stops ALA and PBG production and brings levels of these substances back to normal. Hemin can also improve AHP symptoms and prevent complications. For a severe attack, you'll go to a hospital and get this treatment through an IV once a day for 4 days.
Carbohydrate loading. In the first few days of an attack, increasing your carb intake can help lower the amount of porphyrin precursors in your body. You may get glucose (sugar) through a vein or by mouth to give you the extra carbohydrates you need.
Supportive care. Nausea, vomiting, and diarrhea can leave you dehydrated or low in certain nutrients. The hospital staff will give you fluids and nutrition through an IV. They'll also monitor your electrolyte levels and give you saline (salt and water) if sodium levels in your blood are too low.
Symptom relief. At the hospital you'll get medicines to manage pain, nausea, vomiting, high blood pressure, and other problems from AHP.
Anti-seizure medicines. About 1 in 5 people with AHP have seizures that are severe enough to need treatment. Seizures are tricky to treat, though. Anti-seizure medicines like barbiturates, carbamazepine, and valproic acid (Depakene, Depakote) can make attacks worse. Benzodiazepines, levetiracetam (Elepsia XR, Keppra), magnesium sulfate, are safer options.
Phenothiazines. These medicines are part of a group of drugs called atypical antipsychotics. Phenothiazines treat AHP symptoms like hallucinations, nausea, and vomiting.
Long-Term Treatments
Medicines like these can help prevent AHP symptoms if you get frequent attacks.
Preventive hemin. Getting hemin at regular intervals can help you avoid attacks. Infusions of low-dose hemin every 1 to 4 weeks stop hemin from building up in your body. You'll get this treatment at your hematologist's office or at an infusion center.
Givosiran (Givlaari). This gene therapy targets an enzyme called ALAS1 in your liver. ALAS1 is involved in making heme. Because of a problem with heme production in AHP, ALAS1 causes toxic substances to build up in your body and cause attacks. Givlaari is a once-monthly injection that reduces ALAS1 levels to prevent attacks.
Hormone therapy. If AHP attacks are related to your menstrual cycle, taking gonadotropin-releasing hormone (GnRH) analogs may help. These medicines block estrogen and progesterone production and stop you from getting periods.
Liver transplant. This surgery replaces your liver with a healthy one from a donor. A liver transplant may be an option if you have severe attacks or your AHP hasn't gotten better with other treatments. It's the only way to cure the disease. But because a transplant comes with risks like bleeding, infection, and rejection of the donated liver, it's usually done only as a last resort.
Long-Term Monitoring
Even if your symptoms go away, you'll need regular monitoring and follow-up visits. At these appointments your doctor will make sure your condition is under control and will check you for complications and side effects.
Having AHP puts you at higher risk for a type of liver cancer called hepatocellular carcinoma. If you're 50 or older, get screened for this cancer each year with ultrasound and a blood test for the alpha fetoprotein (AFP) tumor marker.
AHP also increases your risk for kidney damage. Your doctor will check your kidney function regularly.
GnRH agonists increase the risk for diabetes and cardiovascular disease. Women who take these medicines will need regular monitoring of their blood sugar, blood pressure, and heart health.
Anyone who is on preventive hemin needs to be tested for ferritin, a protein in the blood that contains iron. Taking hemin long term can lead to iron overload.
How to Find a Doctor
AHP is rare. Only about 1 in 100,000 people throughout the world have this condition. Because AHP is so uncommon, few doctors have experience diagnosing it. Organizations like the American Porphyria Foundation and the United Porphyrias Association can help you find a doctor who has expertise in treating AHP. If no specialists are in your area, they can teach your current doctor how to treat AHP.
Members of Your AHP Care Team
AHP affects many parts of your body. That's why it takes a group of doctors in different specialties to manage it. These are some of the specialists who will be part of your AHP treatment team:
- Hematologist: A doctor who treats blood disorders
- Nephrologist: A doctor who treats diseases of the kidneys.
- Neurologist: A doctor who treats diseases of the nervous system, which includes the brain, spinal cord, and nerves
- Dermatologist: A doctor who treats skin problems
- Gastroenterologist: A doctor who treats diseases of the GI tract (stomach, intestines)
Lifestyle Changes
Lifestyle changes for AHP focus on eating a balanced diet, avoiding triggers like alcohol and smoking, and managing stress.
Dietary guidelines
Doctors and dietitians don't recommend a specific diet for AHP. The best advice is to eat a well-balanced diet that includes a mix of proteins, fats, and carbohydrates. Avoid fasting and extremely low-calorie or low-carbohydrate diets because restricting calories can trigger attacks. Very high-calorie, high-fat diets also aren't a good idea because they can lead to weight gain and obesity.
During attacks, you might want to eat more carbohydrates like whole wheat bread, oatmeal, and quinoa. Carbohydrates reduce the activity of the ALAS1 enzyme that triggers attacks. Some people find that eating more carbs improves their symptoms.
How to manage stress
To calm your mind when you feel stressed out, try these relaxation techniques:
- Sit in a quiet place for 5 to 10 minutes and breathe deeply or meditate to calm your mind.
- Take a walk outside.
- Watch a funny movie.
- Call, text, or visit a friend.
- Practice yoga.
- Release your emotions by writing in a journal, painting, drawing, or playing music.
If relaxation techniques aren't enough to calm your stress, ask for help from a professional. You might see a psychologist, therapist, or counselor.
Questions to Ask Your Doctor
You have a limited amount of time to spend with your doctor. Make the most of each visit by coming prepared with a list of questions like these:
- What tests will you order? What can these tests tell you about my condition?
- What is triggering my attacks?
- What medications can help to control my pain and other symptoms?
- Which medicines should I avoid?
- How might AHP medicines interact with medicines I take for other conditions?
- What foods should I eat? Which ones should I avoid?
- For what symptoms should I call you?
- When should I go to the hospital?
- How can I learn more about AHP?
- What is my outlook?
Show Sources
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SOURCES:
American Liver Foundation: "Acute Hepatic Porphyria (AHP)."
American Porphyria Foundation: "Diet Information for All Porphyrias."
Cleveland Clinic: "Acute Hepatic Porphyria."
Clinical Advances in Hematology & Oncology: "What Hematologists Need to Know About Acute Hepatic Porphyria."
Drugs: "Gonadotropin Releasing Hormone (GnRH) Agonists and the Risk of Diabetes and Cardiovascular Disease in Men with Prostate Cancer."
FDA: "Highlights of Prescribing Information: GIVLAARI."
Gastroenterology: "AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review."
Genetic and Rare Diseases Information Center: "Acute Intermittent Porphyria."
Mayo Clinic: "Liver Transplant," "Porphyria," "Stress Management."
Orphanet Journal of Rare Diseases: "Disease Burden in Patients with Acute Hepatic Porphyria: Experience From the Phase 3 ENVISION Study."
StatPearls: "Acute Hepatic Porphyria."
United Porphyrias Association: "Find a Doctor."
Environmental Protection Agency: "Ultraviolet (UV) Radiation and Sun Exposure."
