Overview
Pseudocholinesterase deficiency is a rare condition that makes a person sensitive to certain muscle relaxants, such as succinylcholine or mivacurium, used during general anesthesia. People with this disorder experience a longer-than-usual paralysis of their muscles when exposed to these medications. The temporary loss of muscle function impairs breathing and movement, sometimes requiring mechanical ventilation to support the individual until normal function is restored. Pseudocholinesterase deficiency can be inherited or acquired due to various factors such as illness, injury, or certain medications. There is no cure for this disorder, but alternative muscle relaxants can be used during anesthesia to minimize complications.
Understanding the disease
Symptoms
Pseudocholinesterase deficiency can cause muscle relaxation or muscle paralysis that lasts several hours longer than expected. During that time, affected individuals can't move or breathe on their own. Symptoms occur when someone with the disorder receives the muscle relaxant succinylcholine, which is used as part of anesthesia. The length of time that muscle paralysis lasts may vary among affected individuals.
Risk Factors
Risk factors for developing pseudocholinesterase deficiency include:
- A family history of the disorder or a family member with a problem related to anesthesia.
- Having a personal history of problems with anesthesia.
- Certain medical conditions, such as chronic infections, kidney or liver disease, malnutrition, severe burns, cancer, or pregnancy.
- Certain medications that can reduce the production of the pseudocholinesterase enzyme. It's important to consult with a healthcare provider if you have a family history of pseudocholinesterase deficiency or have a family member with a history of anesthesia-related problems, as this can help determine your risk and guide your healthcare decisions.
Development
Pseudocholinesterase deficiency can develop in two ways: inherited or acquired.
- Inherited pseudocholinesterase deficiency: This type of deficiency is caused by a gene change (mutation) inherited from one or both parents. The gene provides the instructions to make the pseudocholinesterase enzyme, which is needed to break down choline esters. If you have this gene change, you may not produce enough of the enzyme or it may not work properly. As a result, your body has difficulty metabolizing succinylcholine, leading to muscle relaxation or paralysis that lasts longer than expected.
- Acquired pseudocholinesterase deficiency: This type of deficiency occurs due to conditions or factors that cause your body to produce less of the pseudocholinesterase enzyme, such as chronic infections, kidney or liver disease, malnutrition, severe burns, cancer, or pregnancy. Certain medications can also reduce production of the enzyme. Acquired pseudocholinesterase deficiency is not inherited and cannot be passed to your children. In both cases, pseudocholinesterase deficiency causes muscle relaxation or paralysis that lasts longer than expected after receiving succinylcholine during general anesthesia. This can lead to difficulty breathing and other complications.
Assessment and Diagnosis
Triage
You should see a doctor if pseudocholinesterase deficiency is suspected, especially if you have signs or symptoms of the condition, such as muscle relaxation or paralysis that lasts several hours longer than expected. This can occur after receiving the muscle relaxant succinylcholine during a medical procedure. In such cases, you may need help breathing with a mechanical ventilator until you can start breathing on your own. If you have a family history of pseudocholinesterase deficiency or a family member who had any problem with anesthesia, it is important to inform your healthcare provider before any medical procedure requiring anesthesia.
Diagnosis
To diagnose pseudocholinesterase deficiency, a blood test can be performed to determine if you have enough of the pseudocholinesterase enzyme. Genetic testing is also used to identify the gene change that causes the disorder by analyzing a sample of your blood. It is recommended that family members be tested before surgery as well.
Management and Treatment
Complications
Pseudocholinesterase deficiency can lead to several complications, especially during general anesthesia when the muscle relaxant succinylcholine is used. Potential complications include:
- Prolonged muscle relaxation or paralysis: As the muscles stay relaxed for a longer time than expected, the individual cannot breathe or move on their own, often requiring assistance from a mechanical ventilator to support breathing until they regain muscle function.
- Respiratory failure: The inability to breathe on one's own can lead to respiratory failure, which may require emergency medical intervention.
- Cardiovascular complications: Rapid heart rate, irregular heart rhythm, and dangerously high body temperature can occur due to the prolonged muscle relaxation caused by pseudocholinesterase deficiency.
- Hypoxia: Low oxygen levels in the body can result from respiratory failure, which can cause serious complications, including brain damage.
- Hypercapnia: High levels of carbon dioxide in the blood due to shallow breathing can lead to respiratory acidosis, a condition where the blood becomes too acidic.
- Other complications: Severe muscle rigidity or spasms, excessive sweating, and patchy, irregular skin color (mottled skin) can also occur in some individuals with pseudocholinesterase deficiency. It is essential to inform healthcare providers of a family history of pseudocholinesterase deficiency or any previous anesthesia-related issues to minimize potential risks during medical procedures.
Home Remedies
Pseudocholinesterase deficiency is a rare genetic disorder that affects the body's ability to metabolize certain muscle relaxants. It's important to consult with a healthcare professional for proper diagnosis, treatment, and management of the condition.
Treatment
Pseudocholinesterase deficiency is a rare disorder that makes a person sensitive to certain muscle relaxants used during general anesthesia. There is no cure for the condition, but healthcare providers can use alternative muscle relaxants to prevent the prolonged muscle paralysis caused by succinylcholine. If you have a family history of pseudocholinesterase deficiency, discuss it with your healthcare provider before having any medical procedures that require anesthesia.