Pseudocholinesterase deficiency

Pseudocholinesterase deficiency
Synonyms	Butyrylcholinesterase deficiency, Plasma cholinesterase deficiency
Pronounce	N/A
Specialty	N/A
Symptoms	Prolonged muscle relaxation, apnea
Complications	Respiratory failure, prolonged paralysis
Onset	Congenital
Duration	Variable, depending on exposure to triggering agents
Types	N/A
Causes	Genetic mutation in the BCHE gene
Risks	Family history, genetic predisposition
Diagnosis	Dibucaine number test, genetic testing
Differential diagnosis	Myasthenia gravis, Lambert-Eaton myasthenic syndrome
Prevention	N/A
Treatment	Supportive care, mechanical ventilation if needed
Medication	Avoidance of succinylcholine and mivacurium
Prognosis	N/A
Frequency	1 in 3,200 to 1 in 5,000 individuals
Deaths	Rare, if managed appropriately

Pseudocholinesterase deficiency is a medical condition that is characterized by an atypical reaction to certain drugs used during general anesthesia, such as the muscle relaxants succinylcholine and mivacurium as well as certain ester local anesthetics. The condition is inherited in an autosomal recessive manner. This means the deficient individual must have two copies of the abnormal gene for the disease to develop.

Signs and Symptoms

The primary sign of pseudocholinesterase deficiency is an extended period of muscle paralysis or weakness following the administration of anesthesia. This can lead to difficulty breathing if the muscles that control breathing are affected.

Causes

Pseudocholinesterase deficiency is caused by a mutation in the BCHE gene. This gene provides instructions for making a protein called butyrylcholinesterase, which is responsible for breaking down certain drugs used during general anesthesia.

Diagnosis

The diagnosis of pseudocholinesterase deficiency usually occurs after a person has had a reaction to anesthesia. Blood tests can be done to measure the level of pseudocholinesterase in the blood.

Treatment

There is no cure for pseudocholinesterase deficiency. Management of the condition involves avoiding certain drugs that can cause a reaction. In cases where these drugs have been administered, mechanical ventilation may be required to assist with breathing until the drugs have been metabolically cleared.

See Also

• Anesthesia
• Butyrylcholinesterase
• BCHE gene
• Autosomal recessive inheritance

References

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