AHP is a rare genetic disease
Acute hepatic porphyria (AHP) refers to a family of rare genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic debilitating symptoms that negatively impact daily functioning and quality of life. There are four types of AHP:
The different types of AHP
Most common
- Acute intermittent porphyria (AIP)
- Variegate porphyria (VP)
- Hereditary coproporphyria (HCP)
- ALAD-deficiency porphyria (ADP)
Extremely rare
The symptoms of AHP often resemble those of other diseases in the gastrointestinal, gynecological, and neurological or neuropsychiatric areas. Severe symptoms can lead to hospitalizations and unnecessary surgeries or procedures. Misdiagnosis is common, and people with AHP can wait years for an accurate and confirmed diagnosis.
Find out more about how AHP works by watching the video below. It takes you inside the body, for a deeper understanding of the disease, its signs and symptoms, and common misdiagnoses.
What AHP Does To The Body
- In people with a genetic defect for AHP, one of the enzymes in the heme pathway doesn’t work properly
- Heme is essential to our body and is necessary for our liver to function properly
- In the liver, the heme pathway is controlled by an enzyme called ALAS1
- When ALAS1 activity is increased, the enzyme that doesn’t work properly is unable to keep up. This results in the buildup of toxins called aminolevulinic acid (ALA) and porphobilinogen (PBG) in the liver, which are released throughout the body
- ALA and PBG are harmful to nerve cells and have been associated with the symptoms and attacks of AHP
- Attacks are associated with widespread dysfunction within the nervous system and a wide array of symptoms that can mimic those of other diseases, making a diagnosis difficult
AHP can affect anyone
- AHP affects people of all races and ethnicities
- AHP can affect people of all genders and ages, but most cases are in women between the ages of 15 and 45
- Approximately 80% of people with AHP are women, while around 20% are men
- Not everyone who has a genetic mutation for AHP will develop symptoms
Everyone experiences AHP
in a different way
Acute attacks can be life-threatening and can last for days. Acute attacks are not the only sign of AHP—some people with AHP also experience debilitating symptoms daily, even when they are not having attacks. This is part of what makes diagnosis difficult.
ACUTE AHP attacks
Acute attacks can cause severe problems in many parts of the body, and often require hospitalization.
CHRONIC AHP SYMPTOMS
Chronic symptoms, such as anxiety, nausea, pain, and fatigue can take a serious toll on some people with AHP.
There are tests your doctor can perform to help determine if you have AHP
By the time I was 14, I had more unexplained attacks. My symptoms included tremors, seizures, sunburns and light sensitivity, frequent vomiting, abdominal pain, severe all-body pain, muscle weakness, memory loss, and diarrhea.
— Nathan, living with AHP
Recognizing the signs and symptoms
Because the symptoms of AHP can mimic many other diseases, being aware of its many possible symptoms can help your doctor identify the disease as early as possible. Recognizing the symptoms is a crucial first step to understanding the disease and knowing how to reduce the likelihood of attacks.
Severe, unexplained abdominal pain is the most common symptom, occurring in more than 90% of people who experience AHP attacks. People with AHP are likely to also experience at least one of many other, seemingly unrelated symptoms.
Signs and Symptoms of AHP
While most people with AHP experience severe abdominal pain during attacks, symptoms vary from person to person and change over time. Not every person with AHP will experience all of the symptoms listed here, and some will experience symptoms more frequently or more severely than others.
1CENTRAL
NERVOUS SYSTEM
Confusion
Anxiety
Seizures
Insomnia
Hallucinations
Depression
2PERIPHERAL
NERVOUS SYSTEM
Limb weakness or pain
Numbness
Fatigue
Tiredness
Paralysis
Respiratory paralysis
Sensory loss
3CARDIOVASCULAR
Rapid heart rate
High blood pressure
4CUTANEOUS (SKIN) SYMPTOMS*
Lesions or blisters on
5GASTROINTESTINAL
Constipation or diarrhea
6AUTONOMIC
NERVOUS SYSTEM
Unexplained abdominal pain
Pain in back or chest
Nausea and vomiting
Other
Dark or reddish urine
Low blood sodium
*Hereditary coproporphyria and variegate porphyria primarily.
There are a number of triggers for AHP attacks
Common triggers are shown below. Since triggers can be different for every person, there may be others not listed here.
SOME MEDICATIONS
Hormones including levels of estrogen and progesterone. These hormones fluctuate the most during the 2 weeks before a woman’s menstrual cycle begins
ALCOHOL
SMOKING
Stress
caused by:
−Surgery
−Physical
−exhaustion
−Emotional
−exhaustion
Fasting or extreme dieting
AHP can be misdiagnosed as other conditions
The signs and symptoms of AHP can be mistaken for those of other conditions, shown below. These misdiagnoses can lead to unnecessary treatments, surgeries, and hospital stays.
Gastrointestinal disorders
- Irritable bowel syndrome (IBS)
- Acute gastroenteritis with vomiting
- Hepatitis
Neurological/neuropsychiatric disorders
- Fibromyalgia
- Guillain-Barré syndrome
- Psychosis
Gynecological disorder
- Endometriosis
Abdominal conditions requiring surgery
- Appendicitis
- Cholecystitis
- Peritonitis
- Intestinal occlusion