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4 Acute Intermittent Porphyria Symptoms: Causes, Diagnosis, And Treatment
Updated on
- Written by Amy Sowell, LPN
Medically reviewed by
Rob Peterson, MS
Porphyria is a group of rare disorders that affect the production of heme, an essential component of hemoglobin that carries oxygen in the blood. Acute Intermittent Porphyria[1] (AIP) is the most common type of porphyria, accounting for around 80% of all cases. AIP is a genetic condition that affects the liver’s ability to produce heme, leading to the buildup of porphyrin precursors in the body. These precursors can cause a wide range of symptoms that can be life-threatening if left untreated.
4 Acute Intermittent Porphyria Symptoms
- Abdominal pain
- Nausea and vomiting
- Peripheral neuropathy
- Seizures
What Is Acute Intermittent Porphyria?
AIP is an autosomal dominant disorder that is caused by mutations in the hydroxymethylbilane synthase gene, which provides instructions for making an enzyme called porphobilinogen deaminase (PBGD). PBGD is necessary for the synthesis of heme, and a deficiency in this enzyme can lead to the accumulation of porphyrin precursors in the liver. These precursors can then be released into the bloodstream and cause a wide range of severe symptoms.
AIP is a rare disorder that affects around 5 in 100,000 people worldwide. It is more common in women[2] than men and usually presents in early adulthood. AIP can be triggered by various factors, including hormonal changes, alcohol consumption, certain medications, and fasting.
Acute Hepatic Porphyria[3] (AHP) is a rare genetic disorder characterized by the insufficient activity of one of the enzymes in the heme biosynthesis pathway in the liver. This leads to the accumulation of toxic porphyrin precursors that can cause acute recurrent attacks of severe abdominal pain, neuropsychiatric symptoms, and autonomic dysfunction. AHP can be challenging to diagnose due to its non-specific symptoms and variable presentation. Treatment options include intravenous hemin to reduce porphyrin production, symptomatic management, and lifestyle modifications to prevent triggers.
Acute Intermittent Porphyria Symptoms
The symptoms of Acute Intermittent Porphyria can vary and are often nonspecific, making the diagnosis challenging. One of the hallmark features of AIP is the presence of nervous system symptoms, which can range from mild to severe. These symptoms are primarily due to the accumulation of porphyrin precursors in the nervous system. The most common symptoms of acute porphyria include severe abdominal pain, nausea, vomiting, and peripheral neuropathy.
Abdominal Pain
Abdominal pain is the most common symptom of AIP, affecting around 80% of people with the condition. The pain is often severe and can be diffuse, meaning it is spread over a large area of the abdomen. The pain can be accompanied by bloating, constipation, or diarrhea, and may be relieved by passing urine or stool. Abdominal pain is usually the first symptom that presents during an attack of acute porphyria.
The use of CBD for pain management has gained popularity in recent years, and some studies suggest that it may be effective in treating abdominal pain. CBD[4], a non-psychoactive compound derived from the hemp plant, has been shown to have anti-inflammatory and analgesic properties. When ingested in the form of a gummy, CBD can provide a slow-release, long-lasting effect that can help alleviate chronic pain and inflammation. CBD gummies for pain are a convenient and tasty way to consume CBD for pain relief.
Nausea And Vomiting
Nausea and vomiting are common symptoms of AIP that can accompany abdominal pain. These symptoms can be severe, leading to dehydration and electrolyte imbalances. Nausea and vomiting can also be triggered by certain medications, such as opioids, making it important to identify the underlying cause of these symptoms.
Peripheral Neuropathy
Peripheral neuropathy is a common symptom of AIP that affects around 50% of people with the condition. Peripheral neuropathy is a condition that affects the nervous system and can cause weakness, numbness, and tingling in the hands and feet. In severe cases, peripheral neuropathy can lead to muscle weakness and paralysis.
Seizures
The exact mechanism by which seizures[5] occur in AIP is not fully understood, but it is believed that the accumulation of heme precursors affects the balance of neurotransmitters in the brain. Management of seizures in acute porphyria involves the use of antiepileptic drugs, as well as the avoidance of triggers such as certain medications, alcohol, and fasting. Close monitoring and prompt treatment of seizures are essential in patients with AIP to prevent potential complications such as status epilepticus.
Acute Intermittent Porphyria Causes
AIP is caused by a deficiency in the PBGD enzyme, which is necessary for the synthesis of heme. This deficiency can be caused by mutations in the HMBS gene or by environmental factors that affect the liver’s ability to produce heme. Acute porphyrias can be triggered by various factors, including hormonal changes, alcohol consumption, certain medications, and fasting.
Hormonal Changes
Hormonal changes can trigger an acute attack of acute porphyrias, particularly in women. Hormonal changes can occur during menstruation, pregnancy, and menopause, making women more susceptible to acute porphyrias during these times.
Alcohol Consumption
Alcohol consumption can interfere with the liver’s ability to produce heme. Alcohol can also increase the production of porphyrin precursors, leading to their accumulation in the body. Therefore, it is strongly advised that individuals with AIP avoid drinking alcohol altogether. In cases where alcohol consumption is unavoidable, it is recommended to limit alcohol intake to a minimum and avoid binge drinking as much as possible.
Certain Medications
Certain medications can interfere with the liver’s ability to produce heme. Medications that can trigger AIP include barbiturates, sulfonamides, and certain antibiotics. It is essential to identify the underlying cause of AIP to prevent future acute attacks.
Fasting
Fasting can trigger an acute attack of AIP, as it can lead to the depletion of heme in the body. This depletion can cause the liver to produce more porphyrin precursors, leading to their accumulation in the body.
Treatment
The treatment of AIP aims to manage the symptoms of acute attacks and prevent future attacks. Treatment options include medications, lifestyle changes, and gene therapy.
Medications
Medications can be used to manage the symptoms of acute attacks and prevent future attacks.
Medications[6] that can be used to treat AIP include:
- Intravenous Injection of Heme
- Glucose
- Certain Pain Medications
Heme is an essential component of hemoglobin and can be used to replenish heme levels in the body.
Lifestyle Changes
Lifestyle changes can be made to prevent future attacks of AIP. These changes include avoiding triggers, such as alcohol and certain medications, and maintaining a healthy diet. When it comes to selecting the right types of rice you can eat with Acute Intermittent Porphyria, it is important to choose a variety that is low in protein and fiber[7].
White rice, for example, is a good option as it is low in both protein and fiber. Brown rice, on the other hand, is higher in fiber and protein and may not be the best choice for individuals with this condition. Ultimately, it’s important to consult with a healthcare professional to develop a personalized diet plan that meets the specific needs of individuals with Acute Intermittent Porphyria.
Gene Therapy
Gene therapy[8] is a promising treatment option for AIP. Gene therapy involves replacing or repairing faulty genes that cause AIP. This treatment is still in the experimental stage but shows promising results.
When To See A Doctor
AIP is a rare genetic disorder that affects the liver’s ability to produce heme, leading to the accumulation of porphyrin precursors in the body. AIP can cause a wide range of symptoms, including abdominal pain, nausea, vomiting, and peripheral neuropathy. AIP can be triggered by various factors, including hormonal changes, alcohol consumption, certain medications, and fasting. Treatment for AIP aims to manage the symptoms of acute attacks and prevent future attacks. If you experience any symptoms of AIP, it is essential to see a doctor for early diagnosis and treatment.
Conclusion
AIP is a rare genetic disorder that affects the liver’s ability to produce heme, leading to the accumulation of porphyrin precursors in the body. AIP can cause a wide range of symptoms, including abdominal pain, nausea, vomiting, and peripheral neuropathy. AIP can be triggered by various factors, including hormonal changes, alcohol consumption, certain medications, and fasting. Treatment for AIP aims to manage the symptoms of acute attacks and prevent future attacks. If you experience any symptoms of AIP, it is essential to see a doctor for early diagnosis and treatment.
Frequently Asked Questions
AIP is an inherited metabolic disorder that affects the production of heme, a component of hemoglobin in red blood cells.
AIP is caused by a deficiency of the enzyme porphobilinogen deaminase (PBGD), which results in the buildup of porphyrin precursors in the body.
Symptoms of AIP can include abdominal pain, vomiting, constipation, muscle weakness, seizures, and mental confusion.
AIP is diagnosed through a blood test that measures the levels of porphyrin precursors in the body, as well as a genetic test to identify mutations in the PBGD gene.
AIP is not curable, but it can be managed through the use of medications to control symptoms and avoid triggers that can cause attacks.
Triggers for AIP attacks can include certain medications, alcohol, hormonal changes, infections, and fasting.
Yes, AIP is a rare condition that affects an estimated 1 in 10,000 to 20,000 people worldwide.
AIP cannot be prevented, but individuals with a family history of the condition can undergo genetic testing to determine their risk and take steps to manage the condition if necessary.
+ 8 sources
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- Kizilaslan, E.Z., Ghadge, N.M., Martinez, A., Bass, M., Rahul Winayak, Mathew, M., Amin, R., Khan, M. and Nadeem Kizilbash (2023). Acute Intermittent Porphyria’s Symptoms and Management: A Narrative Review. [online] doi:https://doi.org/10.7759/cureus.36058.
- Gonzalez-Mosquera, L.F. and Sidharth Sonthalia (2023). Acute Intermittent Porphyria. [online] Nih.gov. Available at: https://www.ncbi.nlm.nih.gov/books/NBK547665/#:~:text=Acute%20intermittent%20porphyria%20affects%20women,between%2018%20to%2040%20years.
- Kothadia, J.P., LaFreniere, K. and Shah, J.M. (2023). Acute Hepatic Porphyria. [online] Nih.gov. Available at: https://www.ncbi.nlm.nih.gov/books/NBK537178/.
- Jakub Mlost, Bryk, M. and Starowicz, K. (2020). Cannabidiol for Pain Treatment: Focus on Pharmacology and Mechanism of Action. [online] 21(22), pp.8870–8870. doi:https://doi.org/10.3390/ijms21228870.
- Zheng, X., Liu, X., Wang, Y., Zhao, R., Qu, L., Pei, H., Miao Tuo, Zhang, Y., Song, Y., Ji, X.-J., Li, H., Tang, L.-O. and Yin, X. (2018). Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome. [online] 97(36), pp.e11665–e11665. doi:https://doi.org/10.1097/md.0000000000011665.
- Zhao, L., Wang, X., Zhang, X., Liu, X., Ma, N., Zhang, Y. and Zhang, S. (2020). Therapeutic strategies for acute intermittent porphyria. [online] 9(4), pp.205–216. doi:https://doi.org/10.5582/irdr.2020.03089.
- Elena Di Pierro and Granata, F. (2020). Nutrients and Porphyria: An Intriguing Crosstalk. [online] 21(10), pp.3462–3462. doi:https://doi.org/10.3390/ijms21103462.
- Konstantina Grosios (2014). Gene therapy for rare diseases – the case for acute intermittent Porphyria. [online] doi:https://doi.org/10.1186/1878-5085-5-s1-a143.
Written by:
Amy Sowell, LPN
Medically reviewed by:
Medically reviewed by:
