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Pseudocholinesterase deficiency

Medically reviewed on November 17, 2017

Overview

Pseudocholinesterase deficiency (PD) is a condition that makes you sensitive to certain drugs used during anesthesia. The drugs are designed to briefly relax your muscles during a medical procedure. With PD, the muscles stay relaxed for a longer time, which can lead to medical complications.

PD is usually inherited. In most cases, no signs or symptoms of the condition exist until you are exposed to anesthesia.

Symptoms

Usually with PD, a gene variant changes how the body processes anesthesia drugs known as choline esters. In most people, the drugs break down quickly, allowing the relaxed muscles to return to normal. If you have PD, your body can't break down the drugs as easily. As a result, the muscles stay relaxed, which can prevent you from moving or breathing on your own for a few hours after use of the drug. Genetic testing can reveal whether you have the gene variant.

To have the condition, you must inherit the affected gene from both of your parents. If you inherit only one affected gene, you won't have the condition. However, you may process choline esters more slowly than those without an affected gene. With one affected gene, you are a gene mutation carrier and can pass the affected gene to your children. But they wouldn't develop the condition unless they also inherited an affected gene from the other parent.

Treatment

If you have a family history of PD or a family member who has problems with anesthesia, tell your doctor prior to any surgery. You can prevent problems by being tested before using the drug. If you have PD, you may want to wear a medical bracelet identifying your condition. Tell family members to be tested prior to surgery as well.

While there is no cure for PD, treatments are available. If breathing stops during surgery, breathing support can be provided. In most cases, recovery happens without the need for medical assistance.

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