What are the symptoms of mixed hepatic porphyria?

Mixed hepatic porphyria, also known as mixed porphyria or acute hepatic porphyria, is a rare genetic disorder that affects the production of heme, a component of hemoglobin. Symptoms of mixed hepatic porphyria can vary widely and may include:

1. Abdominal pain: Severe, colicky abdominal pain is a common symptom of mixed hepatic porphyria. The pain is often located in the lower abdomen and may be accompanied by nausea, vomiting, and constipation.
2. Neurological symptoms: People with mixed hepatic porphyria may experience a variety of neurological symptoms, including muscle weakness, tremors, seizures, and psychiatric disturbances such as anxiety, depression, or hallucinations.
3. Skin symptoms: Skin symptoms are common in porphyria and may include photosensitivity (sensitivity to sunlight), blistering, and skin fragility. However, these symptoms are more commonly associated with cutaneous forms of porphyria rather than mixed hepatic porphyria.
4. Autonomic nervous system dysfunction: Some people with mixed hepatic porphyria may experience symptoms related to autonomic nervous system dysfunction, such as rapid heartbeat (tachycardia), high blood pressure, or excessive sweating.
5. Respiratory symptoms: Respiratory symptoms such as shortness of breath or respiratory failure may occur in severe cases of mixed hepatic porphyria, but these symptoms are less common.

It’s important to note that the symptoms of mixed hepatic porphyria can be triggered or worsened by factors such as certain medications, hormonal changes, stress, and fasting. If you experience symptoms suggestive of mixed hepatic porphyria, it’s important to see a healthcare provider for a proper diagnosis and appropriate management. Treatment for mixed hepatic porphyria may include avoiding triggers, managing symptoms, and in some cases, intravenous heme therapy.

What are the causes of mixed hepatic porphyria?

Mixed hepatic porphyria is a type of porphyria that is caused by a deficiency of the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase. This enzyme is involved in the heme biosynthetic pathway, which produces heme, a component of hemoglobin.

The deficiency of HMBS leads to the accumulation of porphyrin precursors in the liver, which can result in the symptoms of mixed hepatic porphyria. The deficiency of HMBS is typically inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the defective gene from one parent to develop the condition.

In some cases, mixed hepatic porphyria can also be triggered by factors that increase the demand for heme production, such as certain medications, hormonal changes, stress, and fasting. These triggers can lead to the onset of symptoms in individuals who have a genetic predisposition to the condition.

Overall, the exact cause of mixed hepatic porphyria is a combination of genetic factors and environmental triggers that lead to the deficiency of HMBS and the accumulation of porphyrin precursors in the liver.

What is the treatment for mixed hepatic porphyria?

The treatment for mixed hepatic porphyria focuses on managing symptoms, preventing attacks, and avoiding triggers. Treatment approaches may include:

1. Avoiding triggers: Identifying and avoiding factors that can trigger porphyria attacks, such as certain medications, stress, fasting, and exposure to sunlight.
2. Medications:

• Intravenous heme therapy: This is the primary treatment for acute porphyria attacks. Heme is administered intravenously to help reduce the accumulation of porphyrin precursors.
• Pain management: Pain medications may be prescribed to help manage abdominal pain and other symptoms.
• Anti-nausea medications: Medications to reduce nausea and vomiting may be prescribed during acute attacks.

1. Hydration: Avoiding dehydration can help prevent attacks and reduce the risk of complications.
2. Carbohydrate loading: Eating a diet rich in carbohydrates can help reduce the production of porphyrin precursors and prevent attacks.
3. Monitoring and management of complications: Regular monitoring of symptoms and complications, such as liver damage, is important. Complications may require specific treatments.
4. Genetic counseling: Individuals with mixed hepatic porphyria may benefit from genetic counseling to understand the inheritance pattern of the condition and the risks of passing it on to offspring.

It’s important for individuals with mixed hepatic porphyria to work closely with a healthcare team, including specialists in porphyria, to develop a comprehensive treatment plan. The goal of treatment is to manage symptoms, prevent attacks, and improve quality of life.