What is Acute Hepatic Porphyria(AHP)?
Acutehepatic porphyria is a rare genetic disorder that is associated with abdominal pain and issues and problems with the central nervous system.
Acute hepatic porphyria can lead to life-threatening attacks and debilitating symptoms that can negatively affect the daily functioning and quality of life.
Acute hepatic porphyria leads to problems in making a substance called heme that is composed of chemicals called porphyrin. Heme binds to iron.
In those suffering from porphyria, the body lacks enzymes needed to make heme. The accumulation of porphyrin in the tissues and blood leads to symptoms.
Acute hepatic porphyria is of four types:
- Acute intermittent porphyria (AIP)
- Variegate porphyria (VP)
- Hereditary coproporphyria (HCP)
- ALAD-deficiency porphyria (ADP)
Symptoms of Acute Hepatic Porphyria
The understanding of the symptoms of Acute hepatic porphyria will help you know when to act before the symptoms become serious.
An Acute hepatic porphyria attack can also lead to:
- Breathing difficulty such as wheezing or tight feeling in the throat
- High blood pressure
- Dark-colored urine
- Weakened immune system
- Weakened muscles
- High blood pressure
Diagnosis of Acute Hepatic Porphyria
Due to low occurrence and broad symptoms, Acute hepatic porphyria gets misdiagnosed.
Multiple tests are performed to check for the symptoms and diagnosis of acute hepatic porphyria.
The tests include:
- Chest X-ray
- Computed tomography
- Urine test for porphobilinogen
- Genetic testing
- Complete blood count
The porphobilinogen urine test is considered the most important since the levels of porphobilinogen are elevated during an acute attack.
The diagnosis is confirmed after genetic testing of both the person and family members are done.
Treatment of Acute Hepatic Porphyria
Mostly preventive measures are taken to stop Acute hepatic porphyria attacks and improve the quality of life. A synthetic version of heme i.e. hemin is prescribed. It helps in making hemoglobin proteins.
Depending on the condition of the patient the doctor recommends the following:
- Glucose Supplements: These are given orally or intravenously. They help the body to have enough glucose to make red blood cells.
- Gonadotropin-Releasing Hormone Agonist: This is prescribed to females as they lose heme during menstruation.
- Phlebotomy: It is a blood removal procedure that helps get rid of the excessive amount of iron in the blood.
- Gene therapies: Givosiran that is approved by the FDA is given in gene therapies.(2) It is determined that givosiran decreases the rate of production of toxic by-products in the liver, lessening the acute hepatic porphyria attacks.
Regular testing is required during the treatment of Acute hepatic porphyria, to help assess the progress. Measurement of heme, iron, and other elements is important to determine whether the treatment is working or some adjustments need to be made in the treatment plan.
More clinical trials are being conducted to identify and develop new treatments to help manage this condition.
How To Manage An Acute Hepatic Porphyria Attack?
Managing Acute hepatic porphyria is dependent on managing triggers. During an attack, it is important to seek treatment and pain relief.
During an Acute hepatic porphyria attack, in some people, hospitalization is necessary and heme is given intravenously. In a few others, hospital visits would not be required.
There are a few things that trigger Acute hepatic porphyria and you should be aware of it. The triggers include:
- Eating too much protein
- High iron intake
- Low carb diet
- Low-calorie diet
- Hormone replacement medication
- Iron supplements
Stress And Mental Health
Suffering from a chronic disease can be quiet stressful. It gets important to manage stress as much as possible as it may lead to other mental health conditions such as:
If experiencing fear, insomnia, irritability, or loss of interest in normal activities, a healthcare professional should be consulted.
If a person is diagnosed with Acute hepatic porphyria, genetic testing of children and other family members is recommended. The doctor may look for certain enzymes in the liver, to evaluate the risk of Acute hepatic porphyria in biological relatives.
Genetic testing does not prevent Acute hepatic porphyria but can help people get aware of the development of related symptoms.
Getting diagnosed with acute hepatic porphyria can be stressful, but the doctor can help you receive the best treatment. The outlook of this condition is not good but lifestyle changes and treatment can help carry out everyday activities.