Definition

What is pseudocholinesterase deficiency?

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.

How common is pseudocholinesterase deficiency?

Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. It is more common in certain populations, such as the Persian Jewish community and Alaska Natives. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of pseudocholinesterase deficiency?

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.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes pseudocholinesterase deficiency?

There are both genetic (inherited) and acquired causes of pseudocholinesterase deficiency.

Inherited pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, known as butyrylcholinesterase. This enzyme is made by the liver and circulates in the blood. It is involved in breaking down (metabolizing) choline ester drugs. Mutations that cause pseudocholinesterase deficiency either impair the function or production of butyrylcholinesterase. This impairs the body’s ability to effectively metabolize choline ester drugs, leading to the abnormally prolonged effects of these drugs.

Acquired pseudocholinesterase deficiency is not inherited and cannot be passed to the next generation. This form of the condition is caused by impairment of the enzyme’s function due to factors such as kidney or liver disease, malnutrition, major burns, cancer, or certain drugs.

Risk factors

What increases my risk for pseudocholinesterase deficiency?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is pseudocholinesterase deficiency diagnosed?

Pseudocholinesterase deficiency often is first suspected after an episode of prolonged respiratory paralysis following general anesthesia. The diagnosis is confirmed by a blood test that measures pseudocholinesterase enzyme activity.

People with pseudocholinesterase deficiency should warn their relatives to be tested before surgery since the condition is often inherited. People who have relatives who have died for unknown reasons during surgery should be screened for the deficiency prior to undergoing surgery.

How is pseudocholinesterase deficiency treated?

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.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage pseudocholinesterase deficiency?

Please discuss with your doctor for further information.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: December 5, 2017 | Last Modified: December 5, 2017

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