Were You Diagnosed With Acute Hepatic Porphyria (AHP)?

This article is for people who are living with acute hepatic porphyria (AHP) and their care partners, or anyone who wants to learn more about AHP. The goal of this activity is to help you talk to and work with your doctor and healthcare team about ways to help manage AHP.

You will learn about:

• What AHP is and types of AHP

• Symptoms, attacks, and complications (additional problems) that may happen

• What causes AHP and symptom attacks

• Ways to help manage AHP

• Making a treatment plan with your doctor and healthcare team and questions you can ask

Acute hepatic porphyria, or AHP, is a group of rare conditions where you don't make heme properly.

Heme is a molecule that contains iron and is normally found in your body and plays a part in many important functions. This includes combining with globin proteins to form hemoglobin in your red blood cells, which carry oxygen to tissues throughout your body.

One of the places where heme is made is in your liver. During this process, other substances or byproducts -- called porphyrins or porphyrin precursors -- are also made. With porphyria, you're missing an enzyme that's needed to properly metabolize and use these byproducts.

There are 4 types of AHP:

• Acute intermittent porphyria (AIP)

• Variegate porphyria (VP)

• Hereditary coproporphyria (HCP)

• ALAD-deficiency porphyria (ADP)

With each type, a different enzyme is missing that's needed to metabolize and use porphyrins or porphyrin precursors. As a result, they can build up and become toxic.

With AHP, these byproducts build up in your liver first. They can then pass into your bloodstream and cause problems in your nervous system and other body systems.

AHP is caused by a gene mutation that's inherited (passed on from a biological parent). Genes inside your cells carry information that determines your traits. Changes in genes are called mutations.

But just having the gene mutation isn't usually enough to trigger the start of symptoms, so many people won't develop any. Symptoms, when they do happen, are usually triggered for the first time by hormone changes. Triggers can also include certain medicines, alcohol use, smoking, a diet that's very low in calories, poor nutrition, stress, and certain illnesses such as infections.

Depending on the type of AHP, symptoms can include:

• Stomach pain, nausea, vomiting, and constipation or diarrhea

• Trouble peeing and urine that's dark or reddish

• Burning, stabbing, or shooting pain

• Numbness, tingling, or pins and needles in your arms, hands, legs, and feet

• Chest or back pain

• Muscle aches or weakness

• Paralysis (unable to move), trouble breathing

• Seizures

• High blood pressure, fast heartbeat

• Feeling irritated, agitated, or restless

• Mood changes, anxiety, depression

• Confusion, hallucinations

• Sleep problems

• Fatigue (tiredness)

• Skin changes and reactions to sunlight

AHP can affect different people differently. Some may never have symptoms, while other people can have symptoms as attacks that may happen suddenly. Most people who develop symptoms are girls and women (assigned female at birth) between ages 14 and 45.

Some people may also have only 1 or a few symptom attacks during their lifetime. While others can have frequent attacks and chronic (long-term) symptoms.

During an attack, symptoms may last a few days and can get worse before getting better. Symptoms can even last weeks or months, especially if not managed properly. Attacks can be bad enough that you need to go to the hospital.

Getting proper care and treatment for AHP is important. Attacks and the buildup of porphyrins or porphyrin precursors can cause long-term damage and complications such as:

• High blood pressure

• Chronic kidney disease (CKD)

• Cirrhosis (scarring of the liver)

• Liver cancer

The goals of treatment will be to help prevent attacks or stop any as quickly as possible, relieve symptoms, prevent complications, and help improve your quality of life. AHP can be life-threatening, especially if left untreated.

You and your doctor can make a treatment plan together to help prevent and manage attacks and symptoms. Treatment will depend on the type of porphyria, your symptoms, other conditions you have, and your overall health.

As part of your plan, they may recommend:

• Identifying and avoiding triggers, when possible, to help prevent attacks. Not everyone will have the same triggers, and yours may even change over time

• Lifestyle changes such as not smoking, limiting alcohol, eating a well-balanced diet, and maintaining a healthy weight

• Medicines

• Glucose, a type of sugar that helps lower porphyrin levels

• Surgery, such as a liver transplant (for very severe cases)

In addition to your family or primary care doctor, you may see different specialists as part of your healthcare team, such as:

• Gastroenterologist (digestive system)

• Hepatologist (liver)

• Hematologist (blood)

• Gynecologist or ob-gyn (women's health)

• Emergency room team members, in case of an attack

Be sure to tell your team about any symptoms you have and how they affect your daily life. Tracking and recording your symptoms and any triggers and attacks in a journal or diary can help.

Questions you can ask about AHP can include:

• How can we help prevent attacks?

• Are there any triggers I should avoid and lifestyle changes I should make?

• What treatments are available, and what are their possible side effects?

• What should I do if I have an attack?

• What should I do if I feel stressed or depressed?

• Is there a support group I can join?

• Where can I find more information and resources?

Congratulations!

You have successfully completed the program Were You Diagnosed With Acute Hepatic Porphyria (AHP)?

View Additional Materials on this topic that you may find useful:

Porphyria

Porphyria -- National Library of Medicine