Diagnosis

Pseudocholinesterase deficiency may be suspected when you have problems recovering muscle control and breathing after you get the muscle relaxant succinylcholine as part of anesthesia. A blood test can tell if you have enough of the pseudocholinesterase enzyme.

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

Treatment

If you have pseudocholinesterase deficiency, the health care provider who gives you anesthesia (anesthesiologist) can avoid succinylcholine that may trigger prolonged muscle relaxation. The anesthesiologist can choose other muscle relaxants instead.

There is no cure for pseudocholinesterase deficiency. If you have the disorder and you receive a muscle relaxant that prolongs your anesthesia recovery, you'll likely need medical assistance. If needed, a machine that takes over the work of breathing (mechanical ventilation support) and sedation are provided while you recover and start breathing on your own. This may take several hours.

With pseudocholinesterase deficiency, you may also be sensitive to other medications. These can include local numbing medications, also called local anesthetics. Examples are procaine, tetracaine, benzocaine and cocaine.

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

May 13, 2022
  1. Keech BM, et al. Neuromuscular blocking agents. In: Anesthesia Secrets. 6th ed. Elsevier; 2021. https://www.clinicalkey.com. Accessed Feb. 15, 2022.
  2. Pseudocholinesterase deficiency. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/7482/pseudocholinesterase-deficiency. Accessed Feb. 15, 2022.
  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. Ojile JA, et al. Recognizing pseudocholinesterase deficiency in the post-operative patient: Diagnosis and management in the ICU. Kansas Journal of Medicine. 2021; doi:10.17161/kjm.vol1415169.
  7. Sprung J (expert opinion). Mayo Clinic. Feb. 25, 2022.
  8. Davis J, et al. Pseudocholinesterase deficiency and patient perspectives. International Journal of Anesthetics and Anesthesiology. 2021; doi:10.23937/2377-4630/1410124.

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