Acute Hepatic Porphyria

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:

• Acute intermittent porphyria (AIP)

• Variegate porphyria (VP)

• Hereditary coproporphyria (HCP)

• ALAD-deficiency porphyria (ADP)

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 a 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.

AHP CAN AFFECT ANYONE

• Although AHP affects people of all races, it is most common in Caucasians

• AHP affects people of both sexes and can occur at any age, but most cases are in women between the ages of 15 and 45

• Approximately 83% of people with AHP are women, while around 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. Not everyone who has AHP experiences acute, sudden attacks. In some people they happen rarely - in others more often. Some people experience daily symptoms from their AHP, even when they are not having an attack. This is part of what makes diagnosis difficult.

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.

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
• Cholecystitis
• Peritonitis
• Intestinal occlusion

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 neurotoxic intermediates 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.

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.

CERTAIN MEDICATIONS - in some drug classes are known to trigger attacks in people with AHP

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:

• Infections

• Surgery

• Physical exhaustion

• Emotional exhaustion

FASTING or low-carb diets

MANAGEMENT OPTIONS FOR AHP

While there are currently no approved treatments to prevent acute attacks or treat the chronic symptoms of AHP, there are treatments that can be used during an acute attack. For people with AHP, there are also strategies that can help decrease the chance of having these attacks.

MANAGING ACUTE ATTACKS

• Severe, acute attacks often require hospitalization or urgent medical attention

• Attacks can be treated by the use of intravenous (IV) hemin therapy and/or IV glucose

  • Intravenous means when a medicine is delivered directly into a vein

• Your doctor may also prescribe medications to treat specific symptoms of an attack such as beta-blockers for high blood pressure and rapid heartbeat, an antiemetic for nausea and vomiting, and pain medication

In extreme cases, liver transplantation may be considered.