Pseudocholinesterase deficiency
| Pseudocholinesterase deficiency | |
|---|---|
| Classification and external resources | |
| ICD-9-CM | 289.89 |
| OMIM | 177400 |
| DiseasesDB | 10829 |
| eMedicine | med/1935 |
Pseudocholinesterase deficiency is an inherited blood plasma enzyme abnormality in which the body's production of butyrylcholinesterase (BCHE; pseudocholinesterase) is impaired. People who have this abnormality may be sensitive to certain anesthetic drugs, including the muscle relaxants succinylcholine and mivacurium as well as other ester local anesthetics.
Multiple studies done both in and outside India have shown an increased prevalence of pseudocholinesterase deficiency amongst the Arya Vysya community. A study performed in the Indian State of Tamil Nadu in Coimbatore, on 22 men and women from this community showed that 9 of them had pseudocholinesterase deficiency, which translates to a prevalence that is 4000-fold higher than that in European and American populations.
Pseudocholinesterase deficiency (anesthesia sensitivity) is an autosomal recessive condition common within the Persian and Iraqi Jewish populations. Approximately one in 10 Persian Jews are known to have a mutation in the gene causing this disorder and thus one in 100 couples will both carry the mutant gene and each of their children will have a 25% chance of having two mutant genes, and thus be affected with this disorder. This means that one out of 400 Persian Jews is affected with this condition.
The effects are varied depending on the particular drug given. When anesthetists administer standard doses of these anesthetic drugs to a person with pseudocholinesterase deficiency, the patient experiences prolonged paralysis of the respiratory muscles, requiring an extended period of time during which the patient must be mechanically ventilated. Eventually the muscle-paralyzing effects of these drugs will wear off despite the deficiency of the pseudocholinesterase enzyme. If the patient is maintained on a mechanical respirator until normal breathing function returns, there is little risk of harm to the patient.
However, because it is rare in the general population, it is sometimes overlooked when a patient does not wake-up after surgery. If this happens, there are two major complications that can arise. First, the patient may lie awake and paralyzed, while medical providers try to determine the cause of the patient’s unresponsiveness. Second, the breathing tube may be removed before the patient is strong enough to breathe properly, potentially causing respiratory arrest.
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