ICD-10: E80.21

Acute intermittent porphyria (AIP) is a rare genetic disorder that affects the production of heme, a vital component of hemoglobin. The condition is classified under the ICD-10 code E80.21, which specifically denotes acute intermittent (hepatic) porphyria. Below is a detailed clinical description and relevant information regarding this condition.

Clinical Description

Pathophysiology

Acute intermittent porphyria is caused by a deficiency of the enzyme porphobilinogen deaminase (PBGD), which is crucial in the heme biosynthetic pathway. This deficiency leads to the accumulation of porphyrin precursors, particularly porphobilinogen and aminolevulinic acid (ALA), in the liver and other tissues. The excess of these compounds can trigger a range of neurological and abdominal symptoms, especially during acute attacks[1][4].

Symptoms

The clinical presentation of AIP can vary significantly among individuals, but common symptoms include:

• Abdominal Pain: Severe abdominal pain is often the first symptom, resembling an acute abdomen, and may be accompanied by nausea and vomiting.
• Neurological Symptoms: Patients may experience neurological manifestations such as peripheral neuropathy, seizures, anxiety, and confusion. These symptoms can arise due to the neurotoxic effects of accumulated porphyrins[1][4].
• Psychiatric Symptoms: Some patients may present with psychiatric disturbances, including hallucinations and depression, particularly during acute episodes[1][4].
• Autonomic Dysfunction: Symptoms may also include tachycardia, hypertension, and sweating due to autonomic nervous system involvement[1][4].

Triggers

Acute attacks of AIP can be precipitated by various factors, including:

• Medications: Certain drugs, particularly those that induce hepatic enzymes (e.g., barbiturates, sulfonamides), can trigger attacks.
• Hormonal Changes: Menstrual cycles and hormonal therapies may also provoke symptoms.
• Dietary Factors: Fasting or low-carbohydrate diets can lead to increased production of porphyrin precursors.
• Infections and Stress: Physical stressors, including infections and emotional stress, can precipitate acute episodes[1][4].

Diagnosis

Diagnosis of acute intermittent porphyria typically involves:

• Clinical Evaluation: A thorough history and physical examination to identify symptoms and potential triggers.
• Biochemical Testing: Measurement of porphyrins and their precursors in urine, blood, and stool. Elevated levels of ALA and porphobilinogen in urine are indicative of AIP during an acute attack[1][4].
• Genetic Testing: Confirmation of the diagnosis can be achieved through genetic testing to identify mutations in the HMBS gene, which encodes the PBGD enzyme[1][4].

Treatment

Management of acute intermittent porphyria focuses on alleviating symptoms and preventing attacks:

• Acute Attack Management: Treatment during an acute attack may include intravenous administration of glucose or heme arginate to suppress the production of porphyrin precursors. Pain management and supportive care are also essential[1][6].
• Preventive Measures: Patients are advised to avoid known triggers, maintain a balanced diet, and manage stress effectively. Hormonal therapies may need to be adjusted in women[1][6].

Conclusion

Acute intermittent porphyria is a complex disorder characterized by acute abdominal pain, neurological symptoms, and potential psychiatric manifestations due to the accumulation of porphyrin precursors. Early diagnosis and appropriate management are crucial to prevent complications and improve the quality of life for affected individuals. Understanding the triggers and maintaining a proactive approach to treatment can significantly mitigate the impact of this rare condition on patients' lives.

For further information, healthcare providers may refer to clinical guidelines and resources on the management of porphyrias, including the latest research on treatment options and genetic counseling[1][4][6].

Acute intermittent porphyria (AIP), classified under ICD-10 code E80.21, is a rare genetic disorder that affects porphyrin metabolism, leading to a variety of clinical manifestations. Understanding the clinical presentation, signs, symptoms, and patient characteristics associated with AIP is crucial for timely diagnosis and management.

Clinical Presentation

AIP is characterized by acute neurovisceral attacks that can occur intermittently. These attacks are often triggered by various factors, including certain medications, hormonal changes, fasting, and stress. The clinical presentation can vary significantly among patients, with some experiencing mild symptoms while others may have severe manifestations.

Signs and Symptoms

The symptoms of AIP can be quite diverse and may include:

• Abdominal Pain: Severe abdominal pain is one of the hallmark symptoms, often described as colicky or cramp-like. This pain can be accompanied by nausea and vomiting[4].

• Neurological Symptoms: Patients may experience a range of neurological symptoms, including:

• Peripheral neuropathy (tingling, numbness)
• Muscle weakness
• Seizures
• Anxiety and confusion

• Hallucinations or psychosis in severe cases[6][10].

• Autonomic Dysfunction: Symptoms may also include tachycardia (rapid heart rate), hypertension, and sweating abnormalities due to autonomic nervous system involvement[4][6].

• Urinary Changes: Dark or reddish-brown urine is a common finding during acute attacks, resulting from the excretion of porphyrins[5].

• Other Symptoms: Patients may also report fatigue, insomnia, and changes in mental status, which can range from mild confusion to severe psychiatric disturbances[6][10].

Patient Characteristics

AIP typically presents in individuals with specific characteristics:

• Genetic Background: AIP is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene (HMBS gene) is sufficient to cause the disorder. Family history of porphyria may be present in affected individuals[4][5].

• Demographics: AIP can affect individuals of any age, but it most commonly presents in young adults, particularly women, often during their reproductive years due to hormonal influences[6][10].

• Triggers: Patients often have identifiable triggers for their attacks, which can include:

• Certain medications (e.g., barbiturates, sulfonamides)
• Fasting or caloric restriction
• Stressful life events

• Hormonal changes (e.g., menstruation) [4][5].

• Comorbidities: Some patients may have other comorbid conditions, including anxiety disorders or other psychiatric conditions, which can complicate the clinical picture[6][10].

Conclusion

Acute intermittent porphyria is a complex disorder with a range of clinical presentations and symptoms that can significantly impact patients' quality of life. Recognizing the signs and symptoms, understanding patient characteristics, and identifying potential triggers are essential for effective management and treatment. Early diagnosis and intervention can help mitigate the severity of attacks and improve patient outcomes. If you suspect AIP in a patient, it is crucial to conduct appropriate biochemical tests to confirm the diagnosis and initiate management strategies tailored to the individual's needs.

Acute intermittent porphyria (AIP), classified under the ICD-10 code E80.21, is a rare genetic disorder that affects porphyrin metabolism, leading to a variety of symptoms primarily related to the nervous system and gastrointestinal tract. Understanding the alternative names and related terms for this condition can enhance clarity in medical communication and documentation.

Alternative Names for Acute Intermittent Porphyria

1. Acute Intermittent Porphyria (AIP): This is the most commonly used name and is often abbreviated as AIP.
2. Hepatic Porphyria: This term emphasizes the liver's role in the disorder, as AIP is a type of hepatic porphyria.
3. Porphyria, Acute Intermittent: This is a more formal way to refer to the condition, often used in clinical settings.
4. Intermittent Porphyria: A simplified version that may be used in less formal contexts.

Related Terms

1. Porphyrin Metabolism Disorders: A broader category that includes AIP and other types of porphyrias, such as hereditary coproporphyria and variegate porphyria.
2. Porphyria: A general term that refers to a group of disorders caused by the accumulation of porphyrins or porphyrin precursors.
3. Neurological Porphyria: This term may be used to describe the neurological symptoms associated with AIP, such as abdominal pain, neuropathy, and psychiatric symptoms.
4. Acute Hepatic Porphyria: This term encompasses AIP and other acute forms of porphyria that originate in the liver.
5. E80.21: The specific ICD-10 code for acute intermittent porphyria, which is used for billing and documentation purposes in healthcare settings.

Conclusion

Understanding the various names and related terms for acute intermittent porphyria is essential for healthcare professionals, researchers, and patients alike. These terms not only facilitate better communication but also help in the accurate diagnosis and treatment of this complex disorder. If you have further questions or need more specific information about AIP, feel free to ask!

Acute intermittent porphyria (AIP) is a rare genetic disorder characterized by a deficiency in the enzyme porphobilinogen deaminase, which leads to the accumulation of porphyrins and their precursors in the body. The diagnosis of AIP, particularly for the ICD-10 code E80.21, involves a combination of clinical criteria, biochemical tests, and genetic testing. Below is a detailed overview of the criteria used for diagnosis.

Clinical Criteria

1. Symptoms: The clinical presentation of AIP typically includes:
   - Severe abdominal pain, often described as colicky.
   - Neurological symptoms such as peripheral neuropathy, seizures, and psychiatric disturbances.
   - Autonomic dysfunction, which may manifest as tachycardia, hypertension, or urinary retention.
   - Symptoms may be triggered by factors such as certain medications, hormonal changes, fasting, or alcohol consumption[2][3].

2. Family History: A positive family history of porphyria or related symptoms can support the diagnosis, as AIP is inherited in an autosomal dominant pattern[3].

Biochemical Testing

1. Urine Tests: The most critical diagnostic test for AIP is the measurement of porphyrins in the urine. Key findings include:
   - Elevated levels of porphobilinogen (PBG) and aminolevulinic acid (ALA) during acute attacks.
   - A spot urine test can be performed, and a 24-hour urine collection may be necessary for more accurate results[1][4].

2. Blood Tests: While urine tests are more definitive, blood tests may show:
   - Low levels of heme and increased levels of porphyrins in some cases.
   - A complete blood count (CBC) may be performed to rule out other conditions[3].

3. Stool Tests: In some cases, stool tests may be conducted to measure porphyrins, although this is less common for AIP diagnosis[4].

Genetic Testing

1. DNA Analysis: Genetic testing can confirm the diagnosis by identifying mutations in the HMBS gene, which encodes the enzyme porphobilinogen deaminase. This testing is particularly useful in cases where the clinical and biochemical findings are inconclusive or when there is a need for family screening[2][3].

Differential Diagnosis

It is essential to differentiate AIP from other types of porphyria and conditions that may present with similar symptoms. This includes:
- Other acute porphyrias (e.g., hereditary coproporphyria, variegate porphyria).
- Non-porphyric conditions such as abdominal emergencies, neurological disorders, or psychiatric conditions[1][4].

Conclusion

The diagnosis of acute intermittent porphyria (ICD-10 code E80.21) relies on a combination of clinical symptoms, biochemical tests, and genetic analysis. Early diagnosis is crucial for managing acute attacks and preventing complications. If you suspect AIP, it is essential to consult a healthcare professional for appropriate testing and management.

Acute intermittent porphyria (AIP), classified under ICD-10 code E80.21, is a rare genetic disorder that affects the production of heme, a component of hemoglobin. This condition is characterized by acute attacks of abdominal pain, neurological symptoms, and other systemic manifestations. The management of AIP primarily focuses on alleviating symptoms during acute attacks and preventing future episodes. Below is a detailed overview of standard treatment approaches for AIP.

Acute Attack Management

1. Hospitalization

During an acute attack, hospitalization is often necessary to manage severe symptoms and complications. Patients may require close monitoring and supportive care, especially if they present with significant abdominal pain, neurological symptoms, or other severe manifestations.

2. Intravenous Glucose Administration

One of the first-line treatments for acute attacks is the administration of intravenous (IV) glucose. Glucose helps to suppress the overproduction of porphyrins by providing an alternative energy source, thereby reducing the demand for heme synthesis. This can help alleviate symptoms and shorten the duration of the attack[1].

3. Hemin Therapy

Hemin (Panhematin) is a specific treatment for acute porphyric attacks. It is a heme derivative that can help reduce the production of porphyrins by providing the body with heme, which inhibits the activity of the enzyme ALA synthase, the rate-limiting step in heme production. Hemin is administered intravenously and is particularly effective in severe cases or when glucose therapy alone is insufficient[2].

4. Pain Management

Patients often experience severe abdominal pain during attacks. Analgesics, including opioids, may be necessary to manage pain effectively. Careful monitoring is essential to avoid complications related to opioid use, especially in patients with potential respiratory issues due to neurological involvement[3].

5. Supportive Care

Supportive care is crucial during acute attacks. This may include hydration, electrolyte management, and monitoring for complications such as seizures or respiratory distress. Patients may also require psychological support due to the distressing nature of the symptoms[4].

Long-term Management and Prevention

1. Avoidance of Triggers

Preventing acute attacks involves identifying and avoiding known triggers, which can include certain medications, fasting, alcohol consumption, and stress. Patients should be educated about these triggers to minimize the risk of future episodes[5].

2. Genetic Counseling

Since AIP is a hereditary condition, genetic counseling can be beneficial for patients and their families. This can help them understand the genetic basis of the disease, the risk of transmission to offspring, and the implications for family members[6].

3. Regular Monitoring

Patients with AIP should have regular follow-ups with healthcare providers to monitor for any signs of complications or recurrent attacks. This may include periodic assessments of porphyrin levels and liver function tests[7].

4. Lifestyle Modifications

Encouraging a healthy lifestyle, including a balanced diet, regular exercise, and stress management techniques, can help improve overall well-being and potentially reduce the frequency of attacks[8].

Conclusion

The management of acute intermittent porphyria involves a combination of acute treatment strategies during attacks and preventive measures to reduce the risk of future episodes. Intravenous glucose and hemin therapy are central to acute management, while lifestyle modifications and avoidance of triggers play a crucial role in long-term care. Ongoing education and support for patients and their families are essential components of effective management for this complex condition.

References

1. Treatment of Acute Hepatic Porphyria.
2. Case study of acute hepatic porphyria.
3. Clinical study applying machine learning to detect a rare disease.
4. High disease burden and healthcare resource usage in acute hepatic porphyria.
5. Detecting rare diseases in electronic health records using machine learning.
6. Application of the International Classification of Diseases to acute porphyrias.
7. Porphyrin Metabolism - an overview.
8. Real-world annualized healthcare utilization in patients with acute hepatic porphyria.