Causes
Pseudocholinesterase deficiency affects the breakdown of certain drugs and substances in the body.
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The condition is usually inherited in an autosomal recessive pattern, which means two copies of the mutated gene (one from each parent) are needed to develop symptoms. A mutation occurs in the BCHE gene, which produces pseudocholinesterase enzyme instructions.
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The deficiency impairs the enzyme's ability to break down drugs, such as succinylcholine and other choline esters used in anesthesia, resulting in prolonged side effects.
Symptoms
Symptoms of pseudocholinesterase deficiency usually develop during or after anesthesia and include:
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A prolonged period of muscle paralysis after the administration of certain anesthetics, such as succinylcholine, is known as prolonged muscle relaxation.
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As a result of prolonged muscle paralysis, patients may have difficulty breathing or require mechanical ventilation.
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Anesthesia recovery that is slower than normal, accompanied by muscle weakness or fatigue for a prolonged period of time.
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It is possible for individuals to experience muscle pain or soreness after anesthesia wears off.
Diagnosis
There are several steps involved in diagnosing pseudocholinesterase deficiency:
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The purpose of this review is to assess symptoms, especially those related to anesthesia and recovery.
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Measurement of pseudocholinesterase enzyme activity in the blood. Low enzyme activity levels can indicate a deficiency.
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An analysis of the BCHE gene mutations helps confirm a diagnosis, especially if the condition is suspected based on symptoms and family history.
Treatment
A pseudocholinesterase deficiency cannot be cured, but symptoms and complications can be mitigated:
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Avoiding drugs that are metabolized by pseudocholinesterase and opting for alternative anesthetics when possible.
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Providing respiratory support and monitoring during and after anesthesia to prevent complications related to prolonged muscle relaxation.
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The goal of patient education is to ensure proper management of the condition during medical procedures by educating patients and healthcare providers.
Prevention
Complications associated with pseudocholinesterase deficiency can be prevented by:
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A genetic counselor can provide information about the risk of passing the condition on to future children and discuss potential management strategies for families with a history of the condition.
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It is essential that healthcare providers are aware of the patient's pseudocholinesterase deficiency prior to any procedure that requires anesthesia in order to plan and select alternative anesthetic agents accordingly.
Conclusion
In pseudocholesterase deficiency, certain anesthetics and substances cannot be broken down effectively as a result of mutations in the BCHE gene. Symptoms include prolonged muscle relaxation, difficulty breathing, delayed recovery from anesthesia, and muscle pain. Medical history, blood tests to measure enzyme activity, and genetic testing are used to diagnose the disease. Anesthesia planning, supportive care, and patient education are all necessary to manage the condition, even though there is no cure. Healthcare providers must be aware of genetic counseling and genetic counseling can help mitigate complications and improve patient outcomes.
