Which are the symptoms of Pseudocholinesterase Deficiency?

Symptoms of Pseudocholinesterase Deficiency

Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency or plasma cholinesterase deficiency, is a rare genetic condition that affects the body's ability to break down certain medications and chemicals. This condition is caused by mutations in the BCHE gene, which provides instructions for producing an enzyme called pseudocholinesterase.

Pseudocholinesterase is an important enzyme found in the blood and other tissues. Its primary function is to break down certain substances, including certain muscle relaxants, local anesthetics, and some drugs used during surgery. Individuals with pseudocholinesterase deficiency have lower levels or abnormal forms of this enzyme, leading to impaired metabolism of these substances.

The symptoms of pseudocholinesterase deficiency can vary depending on the severity of the condition and the specific substances involved. Some individuals may have no symptoms at all, while others may experience adverse reactions to medications or chemicals that are normally broken down by pseudocholinesterase.

Common symptoms of pseudocholinesterase deficiency include:

• Prolonged paralysis: Individuals with pseudocholinesterase deficiency may experience prolonged paralysis after receiving certain muscle relaxants or anesthesia. This can lead to delayed recovery from anesthesia and increased risk of complications during surgery.


• Increased sensitivity to certain drugs: People with pseudocholinesterase deficiency may be more sensitive to the effects of certain medications, such as succinylcholine, mivacurium, or ester-type local anesthetics. This can result in prolonged or exaggerated responses to these drugs.


• Respiratory difficulties: In some cases, individuals with pseudocholinesterase deficiency may develop respiratory problems, such as difficulty breathing or respiratory failure, after exposure to certain medications.


• Unexplained reactions: Some individuals may experience unexplained reactions to medications or chemicals that are not typically associated with pseudocholinesterase deficiency. These reactions can range from mild symptoms, such as dizziness or nausea, to more severe reactions like seizures or cardiac arrhythmias.

It is important to note that pseudocholinesterase deficiency is a rare condition, and most individuals with this deficiency do not experience any symptoms or complications. However, if you suspect you may have pseudocholinesterase deficiency or have experienced adverse reactions to certain medications, it is crucial to consult with a healthcare professional for proper diagnosis and management.