Pseudocholinesterase Deficiency
Verified By Apollo Hospitals October 1, 2024
Pseudocholinesterase (PCE) is an enzyme made in the liver and found in our blood plasma, which acts as a ghrelin regulator. Pseudocholinesterase deficiency results in the slower metabolism of medications used in anesthesia like succinylcholine, mivacurium, procaine, etc. .
Normally, the anaesthetics used for medical procedures are metabolized by the body within a couple of minutes from being administered. When people who suffer from pseudocholinesterase deficiency are administered anaesthesia, their respiratory muscles relax excessively. They may not be able to move or breathe on their own for a while and may require mechanical ventilation.
What are the symptoms of pseudocholinesterase deficiency?
For most inviduals having pseudocholinesterase deficiency, no signs/symptoms of the condition occur until they are exposed to muscle relaxants mivacurium or succinylcholine used in anesthesia. If so, the muscle paralysis or muscle relaxation caused by such medications lasts for many hours, with the inability to breathe on the own and mechanical ventilation may be required for a while .
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What causes pseudocholinesterase deficiency?
Pseudocholinesterase deficiency is caused by the mutations that occur in the BCHE [butyrylcholinesterase] gene. Since this gene provides instructions for producing butyrylcholinesterase in the liver, this genetic disorder leads to deficiency of pseudocholinesterase enzyme that’s needed to break down choline esters in the muscle relaxing medications used in anesthesia.
The causes of PCE are:
- BCHE gene mutations that result in dysfunctional or ineffective pseudocholinesterase
- Genetic mutation that prevents the production of PCE
- Recessive genetic disorder (as an autosomal recessive trait)
- Acquired pseudocholinesterase deficiency due to :
- kidney and/or liver diseases
- Malnutrition
- Severe burns
- Cancer
- Medication
How is pseudocholinesterase deficiency diagnosed?
You may observe some of the symptoms of PCE deficiency when you come in contact with certain anaesthetics or drugs/medicines or specific pesticides. If your doctor observes initial signs of difficulty in breathing or regaining muscle control during anaesthesia, you could be diagnosed with PCE deficiency. The two methods of diagnosis for pseudocholinesterase deficiency are:
- Blood tests that are done to measure pseudocholinesterase enzyme activity
- Genetic testing for abnormalities in the BCHE gene
When do you need to see a doctor?
A patient’s sensitivity towards succinylcholine makes him or her susceptible to harm and puts him or her at a health risk from anaesthesia. Since PCE deficiency is difficult to diagnose, it might not be detected until anaesthesia is administered to the patient.
Such occasions may arise only during surgeries or other medical procedures. If you or your family member has any medical history of problems related to anaesthesia, you may have pseudocholinesterase deficiency. Consult with anesthesiologist and specialist doctors before you undergo any surgery .
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What is the treatment for pseudocholinesterase deficiency?
There is no conventional form of medical treatment for pseudocholinesterase deficiency. If you suffer from PCE deficiency, your first and foremost step should be informing your doctor or physician when they prescribe medications for you. If you require an interventional procedure, such as surgery, you should inform your surgeon about your condition.
If muscle relaxants or anesthesia are administered to you, these can put your life at risk. You may require mechanical ventilation to help breathing that may be hampered by relaxed respiratory muscles. Wearing a medical alert bracelet/necklace that indicates PCE deficiency will enable healthcare workers to realize your condition in the event of an accident/injury/surgery.
Conclusion
Due to the very nature of this disorder, a patient may not discover it until a surgery or an emergency medical procedure is performed. But once the patient realizes his or her sensitivity to anesthetics, he or she should take utmost care while undergoing any form of surgery. If your surgeon/doctor is unaware of your pseudocholinesterase deficiency, then you may suffer from loss of breathing.
Frequently Asked Questions (FAQs)
How common is pseudocholinesterase deficiency?
Statistically, PCE deficiency is found in 1 in 3200 patients or 1 in 5000 patients.
What happens if I have pseudocholinesterase deficiency?
If you have PCE deficiency, your muscles may stay immobilized for longer durations than required/expected. Excessively relaxed respiratory muscles may result in stopped breathing under anaesthesia.
Is pseudocholinesterase deficiency hereditary?
If PCE deficiency is caused by genetic factors such as mutations in the BCHE gene, then it is hereditary. An acquired PCE deficiency is not a hereditary disorder (it is caused by malnutrition, liver diseases, etc).
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