Which are the causes of Pseudocholinesterase Deficiency?

Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency or plasma cholinesterase deficiency, is a rare genetic condition that affects the enzyme pseudocholinesterase. This enzyme is responsible for breaking down certain medications and substances in the body, including certain muscle relaxants and local anesthetics.

The causes of pseudocholinesterase deficiency are primarily genetic. It is an inherited condition that is passed down from parents to their children. The gene responsible for producing the pseudocholinesterase enzyme can be mutated, leading to reduced or absent enzyme activity.

There are two main types of pseudocholinesterase deficiency:

1. Atypical pseudocholinesterase deficiency: This type is the most common and is caused by a single gene mutation. It is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for their child to be affected. Individuals with atypical pseudocholinesterase deficiency have reduced enzyme activity, but it is usually not severe enough to cause significant health problems.



2. Plasma cholinesterase deficiency: This type is much rarer and is caused by multiple gene mutations. It is also inherited in an autosomal recessive manner. Individuals with plasma cholinesterase deficiency have little to no enzyme activity, which can lead to complications during anesthesia or when certain medications are administered.

Some factors that can increase the risk of pseudocholinesterase deficiency include:

• Family history: Having a family history of pseudocholinesterase deficiency increases the likelihood of inheriting the condition.


• Consanguinity: If parents are closely related, such as being first cousins, the risk of inheriting pseudocholinesterase deficiency may be higher.


• Certain ethnicities: Pseudocholinesterase deficiency is more common in certain ethnic groups, such as individuals of Jewish, Eskimo, or Native American descent.

It is important to note that pseudocholinesterase deficiency is a genetic condition and cannot be prevented. However, individuals who are aware of their condition can take precautions when undergoing anesthesia or taking medications that are metabolized by the pseudocholinesterase enzyme. Anesthesia providers should be informed about the condition to ensure appropriate management and avoid potential complications.