Acute hepatic porphyria (AHP) involves the loss of heme proteins that help make healthy red blood cells. Many other conditions share the symptoms of this blood disorder, so testing for AHP can take time.
Your doctor will diagnose you with AHP after blood, urine, and genetic testing. After your diagnosis, the treatment and management process can begin.
An AHP diagnosis can raise a lot of questions. You may wonder about your treatment options and other steps you can take to prevent future attacks.
Learn more about the steps you and your doctor can take following your AHP diagnosis.
It’s common for AHP to be
- urine tests for porphobilinogen (PBG)
- computed tomography (CT) scan
- chest X-ray
- echocardiogram (EKG)
- complete blood count (CBC)
- genetic testing
A PBG urine test is often considered the most important since urine PBG typically is elevated during an acute attack.
Diagnosis is often confirmed with genetic testing both for the person being tested and their family members.
Part of a good AHP management plan is understanding the symptoms of an attack. This will help you know when to act before it leads to serious complications.
According to the National Institutes of Health, severe abdominal pain is the most common symptom of an impending AHP attack. The pain may extend to other parts of your body, such as your:
An AHP attack can also cause:
- breathing difficulties, such as wheezing or a tight feeling in your throat
- dark-colored urine
- difficulty urinating
- high blood pressure
- increased heart rate or noticeable heart palpitations
- thirst that turns into dehydration
- seizures or hallucinations
- weakened muscles
Call your doctor if you experience any of the above symptoms. Your doctor may direct you to a hospital for treatment.
Preventive measures are key to stopping AHP attacks and improving your quality of life. Your doctor will likely prescribe a synthetic version of heme called hemin, which will help your body make hemoglobin proteins.
Heme is available as an oral prescription, but it may also be given as an injection. Hemin IVs are used in hospitals during AHP attacks.
Depending on your condition, your doctor may recommend the following options:
- Glucose supplements may be given orally as sugar pills or intravenously to help your body have enough glucose to make red blood cells.
- Gonadotropin-releasing hormone agonist is a prescription medication used for females who lose heme during menstruation.
- Phlebotomy is a blood removal procedure used to get rid of excessive amounts of iron in the body.
- Gene therapies such as givosiran, which the
Food and Drug Administration (FDA) approvedin November 2019.
Givosiran was determined to have decreased the rate at which toxic byproducts are produced in the liver, leading to less AHP attacks.
Choosing the right treatments also requires regular blood testing. Your doctor can measure heme, iron, and other elements to see if your treatment is working or if you need some adjustments to your AHP plan.
Researchers are trying to identify and develop new treatments like givosiran to help manage this condition. You may consider asking your doctor about any clinical trials that might be a good fit for you.
These trials may provide free treatment, plus compensation. You can also learn more through ClinicalTrials.gov.
Managing AHP is often dependent on managing triggers. But when an attack occurs, it’s important to seek treatment and pain relief.
An AHP attack often requires hospitalization. There you may be given heme intravenously while being monitored for signs of kidney or liver failure.
Not all AHP attacks require a hospital visit. However, extreme pain or significant symptoms will likely need emergency care.
Your doctor may prescribe medications, such as beta-blockers for high blood pressure, an antiemetic for vomiting, or pain relief medication, to treat symptoms of an attack
While there’s no specific lifestyle plan that can make AHP go away, there are some AHP triggers that you should be aware of.
- eating too much protein
- high iron intake
- hormone replacement medications
- low calorie diets
- low carb diets
- iron supplements (OTC or prescription)
Having a chronic disease like AHP can be stressful, especially since it’s a rarer disease. It’s important to manage your stress as much as possible.
While stress isn’t a direct cause of an AHP attack, it can increase your risk for one.
Porphyrias can also lead to other mental health conditions, such as:
Keep your healthcare providers updated on any mental health symptoms you might be experiencing, such as:
- loss of interest in your normal activities
Such symptoms may be addressed as a part of your healthcare plan.
You’re not alone in dealing with your symptoms of AHP, so reaching out to others can be very helpful.
If you’re diagnosed with AHP, your doctor may recommend genetic testing for your children or other family members.
Your doctor may look for certain enzymes in the liver to help determine if your biological relatives are at risk for AHP.
Genetic testing can’t prevent the onset of AHP, but it can help your loved ones be on the lookout for the development of related symptoms.
Receiving a diagnosis of AHP may be stressful at first, but your doctor is there to answer all your questions and to make sure you receive the best treatment.
The outlook for people with AHP is good. Managing your symptoms with treatments and lifestyle changes, can help you carry out your everyday activities with few issues.