What is AHP?
Acute hepatic porphyria (AHP) refers to a family of rare genetic diseases that can lead to an increase in the production of pigments called porphyrins. Porphyrins are needed by the body to make many important substances, such as hemoglobin, which carries oxygen in the blood.
What are the symptoms of AHP?
Dr. Erwin tells us that AHP is “characterized by potentially life-threatening, acute attacks”. For those who experience chronic attacks, AHP can be debilitating and significantly impact the person’s quality of life.
According to Dr. Erwin, an AHP attack typically causes “episodes of severe abdominal pain” that “ofen is a burning and very severely painful sensation all over the abdomen.” Additionally, nausea and vomiting is common.
Abdominal pain was the first symptom for AHP ambassador, Nicole. As she recounts her first AHP attack, Nicole says “I literally thought I was going to die. The pain just came crashing down.” Nicole recalls that she was walking her dog at the time. Her abdominal pain was so bad that she crawled to a field on the side of the road and laid down.
AHP is also characterized by back pain, chest pain, and pain in the limbs. Dr. Erwin explains that some people report insomnia and anxiety at the start of an acute attack. Others may also experience neuropathy (tingling and numbness in hands and feet), severe fatigue, and muscle weakness.
Nicole has Acute intermittent porphyria (AIP) and in addition to the severe abdominal pain, her symptoms also include neck pain and “stabbing” chest pains.
Who can develop AHP?
Dr. Erwin tells us that “AHP can affect people of all races and ethnicities” and “it can affect people of all ages and genders”. But “most cases are seen in women between the ages of 15 and 45.”
While AHP is considered rare overall, there are four types of AHP (listed below from most common to extremely rare):
- Acute intermittent porphyria (AIP)
- Variegate porphyria (VP)
- Hereditary coproporphyria (HCP)
- ALAD-deficiency porphyria (ADP)
How is AHP diagnosed?
The two most common ways that AHP is diagnosed are by a urine test and a genetic test.
AHP is not commonly known and the symptoms can mimic many other conditions. Because of this “diagnosis can be delayed by up to 15 years in many cases”, says Dr. Erwin.
Nicole went through 12 grueling years of seeing various specialists, undergoing 9 abdominal surgeries (including an unnecessary hysterectomy), and being subjected to countless tests before finally getting a diagnosis.
Raising awareness can help others with AHP get diagnosed sooner and avoid having to go through what Nicole experienced. Nicole says that “no one else is going to fight for you” and encourages people to be their own health advocates.
What is the treatment for AHP?
There is currently no cure for AHP, so treatment focuses on management of symptoms and prevention of complications.