Diagnosis

Pseudocholinesterase deficiency may be suspected when you have problems recovering muscle control and breathing after receiving the muscle relaxant succinylcholine or mivacurium as part of anesthesia. A blood test can be done to measure pseudocholinesterase enzyme activity.

To diagnose inherited pseudocholinesterase deficiency, the abnormal gene that causes the condition are identified using genetic testing. A sample of your blood is collected and sent to a lab for analysis. Ask your doctor if family members should be tested before surgery as well.

Treatment

If you have pseudocholinesterase deficiency, your anesthesiologist can avoid giving you drugs that may trigger prolonged muscle relaxation and choose other muscle relaxants instead.

There is no cure for pseudocholinesterase deficiency. If you have the condition and you receive muscle relaxants that prolong your anesthesia recovery, you'll likely need medical assistance. If needed, mechanical ventilation support and sedation are provided while you recover and start breathing on your own.

With pseudocholinesterase deficiency, you may also be sensitive to other drugs and chemicals. These can include the local anesthetic procaine and certain agricultural pesticides.

If you've been diagnosed with pseudocholinesterase deficiency, wear a medical alert bracelet or necklace. This lets health care professionals know of your risk, especially in an emergency.

March 10, 2020
  1. Pseudocholinesterase deficiency. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/pseudocholinesterase-deficiency. Accessed Jan. 13, 2020.
  2. Pseudocholinesterase deficiency. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/7482/pseudocholinesterase-deficiency. Accessed Jan. 13, 2020.
  3. Robles A, et al. Pseudocholinesterase deficiency: What the proceduralist needs to know. American Journal of Medical Sciences. 2019; doi:10.1016/j.amjms.2018.11.002.
  4. Zhang C, et al. Prolonged neuromuscular block associated with cholinesterase deficiency. Medicine. 2018; doi:10.1097/MD.0000000000013714.
  5. Andersson AM, et al. Butyrylcholinesterase deficiency and its clinical importance in anaesthesia: A systematic review. Anaesthesia. 2019; doi:10.1111/anae.14545.
  6. Sprung J (expert opinion). Mayo Clinic. Feb. 18, 2020.

Pseudocholinesterase deficiency