About AHP
AHP is a rare genetic disease
Acute hepatic porphyria (AHP), a subset of porphyria, refers to a family of rare genetic diseases characterised 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 hospitalisations and unnecessary surgeries or procedures. Misdiagnosis is common, and people with AHP can wait years for an accurate, confirmed diagnosis.
How AHP works
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 haem synthesis doesn’t work properly
- Haem is essential to our body and is necessary for our liver to function properly
- In the liver, the haem 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
- Sudden attacks are associated with widespread dysfunction within the nervous system and a wide array of symptoms which 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 2nd to 4th decades of life
- 83% of those with AHP are women, while 17% 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, so called chronic symptoms, 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 hospitalisation.
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 CONFIRM
IF YOU HAVE AHP
It was really frightening to not know what it was, or how to deal with it, or how to live with it. I’d never really experienced pain like it. Myself and my doctors didn’t really know what to do.
— Alicia, 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.
Acute Hepatic Porphyria typically causes episodes of severe, unexplained abdominal pain, together with one or more of the following:
CENTRAL NERVOUS SYSTEM
- Confusion
- Anxiety
- Seizures
- Insomnia
- Hallucinations
- Depression
PERIPHERAL NERVOUS SYSTEM
- Limb weakness or pain
- Numbness
- Fatigue
- Tiredness
- Paralysis
- Respiratory paralysis
- Sensory loss
CARDIOVASCULAR
- Rapid heart rate
- High blood pressure
CUTANEOUS (SKIN) SYMPTOMS*
- Leisons or blisters on sun-exposed skin
GASTROINTESTINAL
- Constipation or diarrhoea
AUTONOMIC NERVOUS SYSTEM
- Unexplained abdominal pain
- Pain in back or chest
- Nausea and vomiting
OTHER
- Dark or reddish urine
- Low blood sodium
The symptoms of AHP can vary from person to person and change over time. Not every person with AHP will experience all the symptoms listed here and some people will have symptoms more frequently or more severe than others.
*Hereditary coproporphyria and variegate porphyria only.
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 Talk to your healthcare professional to identify which drugs could be suitable to you.
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
−stress
−Psychological
−stress
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
- Crohn’s disease
Neurological/neuropsychiatric disorders
- Fibromyalgia
- Guillain-Barré syndrome
- Psychosis
Gynecological disorders
- Endometriosis
Abdominal conditions requiring surgery
- Appendicitis (inflammation of the appendix)
- Cholecystitis (inflammation of the gallbladder)
- Peritonitis (inflammation within the abdomen)
- Intestinal occlusion (intestinal blockage)