Porphyria refers to a group of diseases that affect fewer than 200,000 people. Acute Hepatic Porphyria (AHP) refers to a family of rare genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic (ongoing and sometimes lifelong) pain and other symptoms that interfere in their ability to live normal lives.
The liver is a vital organ responsible for many functions in your body. It is located under your rib cage on your right side. Some of the jobs the liver does include:
Acute Hepatic Porphyria (AHP, also known as Acute Porphyria) refers to a family of rare genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic (ongoing and sometimes lifelong) pain and other symptoms that interfere in their ability to live normal lives.
There are four types of AHP:
AHP is a hereditary disease, meaning that it can be passed from parents to children. This can occur if either one or both parents carry the defective gene, depending on the AHP type. Men and women inherit the disease equally as often; however, women tend to suffer symptoms more often than men.
AHP occurs when there is a problem with heme production in the liver. When heme is not produced properly, certain toxins called PBG (porphobilinogen) and ALA (aminolevulinic acid) accumulate in the liver and can further circulate throughout the body. ALA and PBG are associated with the painful attacks and other disease manifestations people with AHP experience.
AHP can cause a wide range of symptoms that mimic those of other diseases, and some people with a defective gene associated with AHP may not have any symptoms whatsoever. People with AHP who experience symptoms can suffer from severe attacks that are often unpredictable and include very painful abdominal (belly) pain. Some people may also experience chronic symptoms such as pain in between attacks. Most people have at least one other symptom in addition to the belly pain. Some of these symptoms may include:
The various symptoms of AHP can lead to physical and emotional suffering and exhaustion. This can affect every aspect of life, including overall physical comfort; the ability to work consistently; and maintaining a healthy level of social connectedness with others.
Diagnosis of AHP can be difficult because it is a rare disease, and the symptoms are so wide-ranging that they match those of other, more well-known illnesses. Symptoms can appear to be gastrointestinal (digestive system) in nature; they can seem to be associated with heart problems; they may seem to be muscle-related; they may be mistaken for gynecological problems; or they can present as neurological, psychological or emotional in nature.
Due to the extreme range of symptoms, people with AHP are often incorrectly diagnosed. Many people go see many doctors over the course of several years before they find out exactly what is wrong. These are just some of the diseases and conditions that someone with AHP could be incorrectly diagnosed with before finally receiving a correct identification of their disease:
People who suffer with extreme belly pain and have at least one of the other symptoms stated earlier should consider making an appointment with a doctor to begin the evaluation process. In addition to routine tests that may be done to diagnose illness, AHP testing can involve a urine test that measures (1) the levels of porphyrin precursors, PBG and ALA; and (2) porphyrins, which can be significantly higher than normal in AHP. The accuracy of these tests is better if they are done when someone is having an attack or shortly after they have had an attack.
Additionally, a genetic test can be done to help confirm an AHP diagnosis and help identify at-risk family members. The genetic test can be done using a saliva or blood sample. The benefits of having a genetic test include:
There is no cure for AHP, but there are ways to manage its symptoms. The U.S. Food and Drug Administration has approved some medications that doctors may prescribe to either reduce or treat AHP attacks. Disease management may also include pain medications and glucose supplementation.
Treatment can sometimes include hospital stays so that patients can be monitored and treated when they have attacks that produce serious medical issues such as dehydration, hallucinations, paralysis and breathing difficulties.
It is important that people feel comfortable about asking their care team questions to better understand the nature of their illness. Some conversation starters that you can use with your doctor are:
As a patient living with a rare liver disease, you have several rights that can empower you throughout your health journey. Although every patient’s diagnosis and treatment plan are different, these rights can help you develop better working relationships with the members of your health care team and determine the best path forward for you. View ALF’s Patient Bill of Rights and information from ALF’s 2022 Rare Liver Disease Summit.
Even though AHP falls under the rare disease category, there are resources available to provide additional information and support.
Clinical trials may be offered to people with AHP who wish to be part of research studies that test new treatments before being approved for use by the general public. People with AHP can talk to their doctors about clinical trials, but here are some resources to search for clinical trials on your own:
Clinical trials are research studies that test how well new medical approaches work in people. Before an experimental treatment can be tested on human subjects in a clinical trial, it must have shown benefit in laboratory testing or animal research studies. The most promising treatments are then moved into clinical trials, with the goal of identifying new ways to safely and effectively prevent, screen for, diagnose, or treat a disease.
Speak with your doctor about the ongoing progress and results of these trials to get the most up-to-date information on new treatments. Participating in a clinical trial is a great way to contribute to curing, preventing and treating liver disease and its complications.
Start your search here to find clinical trials that need people like you.
This information was made possible, in part, with the generous support of, and in collaboration with, Alnylam Pharmaceuticals, Inc. The content was reviewed and approved by ALF’s National Medical Advisory Committee in December 2020.
Last updated on March 17th, 2023 at 04:03 pm