–Alicia, living with AHP

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.1,2 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.1

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 properly1
  • Haem is essential to our body and is necessary for our liver to function properly4
  • In the liver, the haem pathway is controlled by an enzyme called ALAS15
  • 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 body1
  • ALA and PBG are harmful to nerve cells and have been associated with the symptoms and attacks of AHP1,5,6
  • 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 difficult3

AHP CAN AFFECT ANYONE

  • AHP affects people of all races and ethnicities3
  • AHP can affect people of all genders and ages, but most cases are in women between the 2nd to 4th decades of life7
  • 83% of those with AHP are women, while 17% are men8
  • Not everyone who has a genetic mutation for AHP will develop symptoms1

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.1,9

ACUTE AHP ATTACKS

Person experiencing severe, unexplained abdominal pain during an acute hepatic porphyria attack

Acute attacks can cause severe problems in many parts of the body and often require hospitalisation.1

CHRONIC AHP SYMPTOMS

Person experiencing ongoing pain from acute hepatic porphyria

Chronic symptoms, such as anxiety, nausea, pain, and fatigue can take a serious toll on some people with AHP.8,10

THERE ARE TESTS YOUR DOCTOR
CAN PERFORM TO CONFIRM
IF YOU HAVE AHP1-3

Person diagnosed with acute hepatic porphyria

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.1,5,10

Acute Hepatic Porphyria typically causes episodes of severe, unexplained abdominal pain, together with one or more of the following:1

Person with acute hepatic porphyria symptoms
1

CENTRAL NERVOUS SYSTEM

  • Confusion
  • Anxiety
  • Seizures
  • Insomnia
  • Hallucinations
  • Depression
2

PERIPHERAL NERVOUS SYSTEM

  • Limb weakness or pain
  • Numbness
  • Fatigue
  • Tiredness
  • Paralysis
  • Respiratory paralysis
  • Sensory loss
3

CARDIOVASCULAR

  • Rapid heart rate
  • High blood pressure
4

CUTANEOUS (SKIN) SYMPTOMS*

  • Leisons or blisters on sun-exposed skin
5

GASTROINTESTINAL

  • Constipation or diarrhoea
6

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.1

*Hereditary coproporphyria and variegate porphyria only.

THERE ARE A NUMBER OF TRIGGERS FOR AHP ATTACKS1,2,8,11

Common triggers are shown below. Since triggers can be different for every person, there may be others not listed here.

Medications as a trigger

SOME MEDICATIONS Talk to your healthcare professional to identify which drugs could be suitable to you.

Hormones as triggers

HORMONES including levels of estrogen and progesterone. These hormones fluctuate the most during the 2 weeks before a woman’s menstrual cycle begins.

Alcohol consumption as a trigger

ALCOHOL

Smoking as a trigger

SMOKING

Stress induced triggers

STRESS
CAUSED BY:

−Infections
−Surgery
−Physical
stress
−Psychological
stress1,7
Fasting as a trigger

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.1,3

Gastrointestinal misdiagnoses

Gastrointestinal disorders11-13

  • Irritable bowel syndrome (IBS)
  • Acute gastroenteritis with vomiting
  • Hepatitis
  • Crohn’s disease
Neurological or neuropsychiatric misdiagnoses

Neurological/neuropsychiatric disorders11-13

  • Fibromyalgia
  • Guillain-Barré syndrome
  • Psychosis
 
Gynecological misdiagnoses

Gynecological disorders

  • Endometriosis12
Abdominal conditions as misdiagnoses

Abdominal conditions requiring surgery11,13,14

  • Appendicitis (inflammation of the appendix)
  • Cholecystitis (inflammation of the gallbladder)
  • Peritonitis (inflammation within the abdomen)
  • Intestinal occlusion (intestinal blockage)

Learn How Doctors Diagnose AHP

AHP = Acute hepatic porphyria; ALA = Aminolevulinic acid; PBG = Porphobilinogen

References: 1. Anderson KE et al. Ann Intern Med. 2005 Mar 15;142(6):439-50. 2. Balwani M et al. Hepatology. 2017 Oct;66(4):1314-1322. 3. Bissell DM & Wang B. J Clin Transl Hepatol. 2015 Mar;3(1):17-26. 4. NCI Dictionary of Cancer Terms - Heme Definition. 5. Puy H et al. Lancet. 2010 Mar 13;375(9718):924-37. 6. Lin CS, et al. Clin Neurophysiol. 2011;122(12):2336-2344. 7. Bonkovsky HL et al. Am J Med. 2014 Dec;127(12):1233-41. 8. Bissell DM et al. N Engl J Med. 2017 Aug 31;377(9):862-872. 9. Simon 2018 et al. Patient. 2018 Oct;11(5):527-537. 10. Gouya L et al. EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyrias (AHP) with Recurrent Attacks. 26 June 2017 I ICPP I Bordeaux, France. 11. Ventura P et al. Eur J Intern Med. 2014 Jul;25(6):497-505. 12. Ko JJ et al. Real World Analysis of Symptoms, Diagnostic Patterns, and Provider Perspective on Acute Hepatic Porphyrias. 13. Alfadhel M et al. Neuropsychiatr Dis Treat. 2014 Nov 12;10:2135-7. 14. Kondo M et al. Int J Hematol. 2004 Jun;79(5):448-56.

AS1-CEMEA-00139 September 2020