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From abdominal pain to psychiatric symptoms: why are acute intermittent porphyria attacks so variable?
Acute intermittent porphyria (AIP) is a rare metabolic disorder that primarily affects heme production due to a lack of the enzyme porphobilinogen deaminase. It is the most common type of acute porphyria. The clinical manifestations of this disease are highly variable and nonspecific, and patients are often asymptomatic. Most carriers of the gene have no family history of the disease, as the condition may remain dormant for generations. Typically only 10 percent of carriers of the syndrome develop acute attacks of the syndrome, and these attacks are more common in women.
Acute manifestations of intestinal pain and rapid heartbeat are among the most common symptoms of acute intermittent porphyria.
Diversity of acute attacks
There are four acute porphyrin symptoms of AIP, of which 90% of patients never experience an acute attack and are usually asymptomatic, while approximately 5% of patients experience recurring attacks. Attacks usually peak in young women and are less common in prepubertal or postmenopausal patients. Symptoms during acute attacks typically last from a few hours to several days, and between attacks, patients are often asymptomatic.
Typical symptoms include severe abdominal pain, early tachycardia, and may be accompanied by vomiting and constipation.
Symptoms and effects of acute attacks
Severe acute attacks may require hospitalization. Abdominal pain is usually severe, crampy, and poorly located, often accompanied by pain in the back and legs. Patients may also present with severe back and leg pain and stiffness, which may be followed by loss of tendon reflexes and paralysis. Psychiatric symptoms may also accompany the episode, such as features resembling paranoid schizophrenia, but rare psychosis and hallucinations are less common.
Causes and causes of attacks
The triggers for acute attacks generally include many medications, weight loss diets, and surgeries. Many medications, such as antibiotics, hormonal contraceptives, epilepsy medications, narcotics, and HIV treatments, may be associated with acute intermittent porphyria. The cause of AIP is a decrease in the activity of the [porphobilinogen deaminase] enzyme caused by genetic mutations. This process causes an obstacle to heme production, which in turn causes pyruvate to accumulate in cells.
The mechanism of acute attacks is unknown, and the most accepted hypothesis is that accumulation of pyruvate causes toxic effects on neurons.
Genetic factors and their effects
The inheritance pattern of acute intermittent porphyria is autodominant, resulting in partial functional deficiency of its glandular enzymes. The disease is too rare to estimate its prevalence, but its incidence increases in families. Although penetration rates are low in the general population, clinical manifestations of the disease are more pronounced in gene carriers.
Diagnosis and testing
The initial diagnosis of acute porphyria is usually confirmed by urine testing. Elevated levels of pyruvate in the urine can confirm the diagnosis of AIP. Advances in genetic testing make early diagnosis possible and effectively reduce patients' risk of disease. Analysis of specific mutations and biochemical activity tracking have shown good results and can effectively identify the risk of AIP.
Treatment methods
If the acute attack is caused by a drug, it is important to stop using the drug in question. High-carbohydrate infusion recommendations may enhance recovery. During acute attacks, hematin and heme arginate are the treatments of choice. Although these treatments are not a cure, they can shorten the duration of the attack and reduce the intensity of the attack.
When most patients experience severe pain, they almost always require the use of opioid analgesics to relieve their pain.
After all, the variability and uncertain onset of acute intermittent porphyria require medical workers to be extra cautious during diagnosis and treatment. This is not only a physical health challenge, but also a potential factor affecting mental health. How do you think the diversity of this disease affects people’s understanding of and response to its prevention and treatment?
