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.

Nov. 17, 2017
References
  1. National Library of Medicine. Pseudocholinesterase deficiency. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/pseudocholinesterase-deficiency. Accessed March 2, 2016.
  2. Thomsen JL, et al. Awareness during emergence from anaesthesia: Significance of neuromuscular monitoring in patients with butyrylcholinesterase deficiency. British Journal of Anaesthesia. 2015;115(suppl):i78. http://bja.oxfordjournals.org. Accessed March 3, 2016.
  3. Soliday FK, et al. Pseudocholinesterase deficiency: A comprehensive review of genetic, acquired and drug influences. AANA Journal. www.aana.com/aanajournalonline.aspx. Accessed March 2, 2016.
  4. Pseudocholinesterase deficiency. National Organization for Rare Disorders. http://rarediseases.org/rare-diseases/pseudocholinesterase-deficiency/. Accessed March 2, 2016.

Pseudocholinesterase deficiency