butyrylcholinesterase deficiency

Butyrylcholinesterase deficiency is a metabolic disorder that disrupts the body’s ability to break down certain anesthetic drugs, resulting in prolonged apnea or respiratory difficulty after exposure to agents such as succinylcholine. This condition arises from variations in the BCHE gene and is inherited in an autosomal recessive pattern. It is considered uncommon, affecting approximately 1 to 9 per 100,000 individuals. Although most people with the deficiency live normally, they are at risk during surgical procedures when susceptible medications are used.

The clinical features of butyrylcholinesterase deficiency primarily involve an abnormal response to anesthesia. Affected individuals typically experience prolonged apnea after the administration of specific muscle relaxants and ester local anesthetics, which may be associated with abnormal enzyme activity observed in laboratory tests. In some cases, this reaction can escalate to respiratory failure, requiring immediate medical intervention. Not all individuals experience all features, and severity varies considerably.

This condition is caused by variations in the BCHE gene, which is responsible for producing the enzyme that helps metabolize certain anesthetic drugs. The disorder is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the altered gene—one from each parent—to be affected. As a result, siblings of an affected individual have an increased likelihood of also being affected. Genetic counseling is recommended for families to better understand recurrence risks and to aid in family planning.

Currently, management focuses on supportive care and symptom management, as there are no treatments specifically approved for butyrylcholinesterase deficiency. Preventive measures include ensuring that healthcare providers are aware of the condition before any surgical procedures, which can help in choosing alternative anesthetic strategies. In cases where prolonged apnea occurs, prompt respiratory support is crucial. Patients should discuss their treatment options with their healthcare team, and genetic counseling is recommended to assist with long-term planning.

With current standards of care, most individuals with butyrylcholinesterase deficiency experience normal health when not exposed to triggering anesthetic agents. However, if an individual is exposed to such medications, the resulting prolonged apnea can lead to serious, albeit treatable, complications. Severity and symptoms vary widely between individuals, and outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition and to seek genetic counseling for further guidance.

Several clinical trials are currently investigating new treatment approaches for butyrylcholinesterase deficiency. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.