Acute Hepatic Porphyria (AHP)
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Overview
Acute Hepatic Porphyria (AHP) is a rare genetic disorder that affects the production of heme, a component of hemoglobin that carries oxygen in the blood. In AHP, there is a deficiency of enzymes involved in heme production, leading to a buildup of porphyrins (precursors to heme) in the liver. This buildup can cause severe symptoms, including abdominal pain, neurological issues, and in some cases, liver damage.
There are several types of AHP, including acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP). While these conditions share some symptoms, they may vary in severity and onset.
What Are the Symptoms of Acute Hepatic Porphyria?
Symptoms of AHP can be triggered by certain factors such as drugs, hormonal changes, fasting, or stress. The main symptoms of AHP include:
- Severe abdominal pain (often the first and most common symptom)
- Nausea and vomiting
- Constipation
- Neurological symptoms such as confusion, agitation, seizures, and muscle weakness
- Painful or red urine due to high levels of porphyrins
- High blood pressure and rapid heart rate
- Mental health issues, including anxiety, depression, and hallucinations
- Sensory disturbances, such as tingling or numbness
In severe cases, the condition can lead to liver damage, including liver failure.
How is Acute Hepatic Porphyria Diagnosed?
Diagnosis typically involves:
To measure porphyrins and other markers of heme production.
That detect elevated levels of porphyrins, which are common in AHP.
To identify mutations in the genes responsible for porphyria.
To assess the extent of liver involvement.
Since AHP often presents with symptoms similar to other conditions, such as gastrointestinal or neurological disorders, it may require specialized tests for accurate diagnosis.
How is Acute Hepatic Porphyria Treated?
There is no cure for AHP, but treatment focuses on managing symptoms and preventing attacks. Treatment may include:
- Intravenous (IV) glucose or hemin to help reduce porphyrin production and alleviate symptoms.
- Pain management to control severe abdominal pain.
- Avoiding triggering factors: Patients should avoid certain medications (such as barbiturates and tranquilizers), fasting, and other stressors that can exacerbate symptoms.
- Hormonal therapy for women to help manage the effects of hormonal fluctuations.
- Liver transplantation may be considered in cases of severe liver damage or when other treatments fail to control symptoms.
Who is at Risk for Acute Hepatic Porphyria?
AHP is inherited genetically, meaning it is passed from parents to their children. Individuals with a family history of AHP have an increased risk of developing the condition. However, the disease can also appear in individuals with no previous family history if a new mutation occurs.
What is the Outlook for People with Acute Hepatic Porphyria?
With appropriate treatment, many individuals with AHP can lead normal lives between episodes. However, repeated attacks and long-term liver damage can lead to complications such as liver failure. If left untreated, AHP can be life-threatening, making early diagnosis and management crucial.
In severe cases, liver transplantation may be necessary to restore normal liver function and prevent complications.
How Can Liver Transplantation Portal Help You?
At Liver Transplantation Portal, we connect families affected by Acute Hepatic Porphyria to expert hepatologists and metabolic specialists. Our platform helps guide you through diagnosis, symptom management, and potential liver transplantation if needed. We ensure you have access to the best care and support to manage this rare and complex disease.
Why Choose Liver Transplantation Portal?
We are committed to supporting patients with rare metabolic liver diseases like AHP. With access to top specialists, treatment options, and transplant centers, Liver Transplantation Portal helps you navigate the complexities of AHP and provides expert care tailored to your needs.
Contact us today to learn more about Acute Hepatic Porphyria and how we can assist you in managing this condition.