Pseudocholinesterase Deficiency

What is Pseudocholinesterase Deficiency?

Pseudocholinesterase Deficiency is an uncommon hereditary issue where you are unable to tolerate some types of anesthetic drugs that contain choline. If you are affected, your body lacks an enzyme to break down the choline, which leads to muscle paralysis and respiratory failure.

About 1 in 1,500 to 2,500 have pseudocholinesterase deficiency. It is more common in men, especially those with Jewish ancestry. You may never know that you have the issue unless you undergo a surgical procedure that uses a choline-based anesthetic.

What are the Symptoms of Pseudocholinesterase Deficiency?

People with pseudocholinesterase deficiency may stop breathing on their own during surgery. Paralysis of the muscles that control breathing can lead to respiratory distress. Other muscles in the body may also be impacted, so you may be unable to move for longer than a patient who does not have the deficiency.

Pseudocholinesterase Deficiency Causes

Pseudocholinesterase deficiency is a rare disorder that keeps the body from breaking down certain drugs used when anesthesia is administered. When an anesthesia drug in the same class as succinylcholine is administered, the body cannot remove the choline esters present in the drug, resulting in deep, prolonged and possibly fatal anesthesia.

Most cases of pseudocholinesterase deficiency are caused by a genetic abnormality in the patient that is usually not discovered until anesthesia has already been administered. When both parents possess the faulty gene responsible for this condition, their children will also inherit the condition.

Pseudocholinesterase deficiency in some cases may be acquired and not genetic in nature. These instances are usually the result of the patient having another disease. For instance, people with advanced liver disease or those in renal failure may not be able to produce pseudocholinesterase. There have also been cases where a deficiency occurs in those who are malnourished.

How is Pseudocholinesterase Deficiency Treated?

If you have a close relative who has pseudocholinesterase deficiency, you can be tested to see if you also have it. A blood test can reveal the lack of the necessary enzyme to break down choline.

A patient with a history of pseudocholinesterase deficiency or a positive test should avoid surgery unless it is absolutely necessary.

If you must undergo surgery, your medical professionals can use an anesthetic that does not contain choline or can put you on a respirator that can mechanically breathe for you during the operation.

Eventually, the paralysis will wear off and you shouldn’t experience any lasting issues.

Pseudocholinesterase Deficiency Prevention

The only way to prevent the genetic type of pseudocholinesterase deficiency would be through genetic testing. If someone had a family history of this genetic disorder, they would want to be tested to see if they had the gene responsible. If so, their partner would need to be tested as well. If only one potential parent had the gene, the child would not inherit the disorder. If both parents possessed the gene, then their child would inherit the condition. Those who have a family history of this condition need to consult with a physician regarding the necessity of genetic testing.

In those cases where pseudocholinesterase deficiency is a result of another disease, those specific diseases responsible would need to be prevented. When malnutrition is a cause of the disorder, prevention would be through making sure that a diet rich in proper nutrients was consumed.

Last Reviewed:
October 10, 2016
Last Updated:
January 16, 2018