Pseudocholinesterase deficiency

Overview

Pseudocholinesterase deficiency is a rare disorder that affects the body's ability to break down certain muscle relaxants, such as succinylcholine and mivacurium. These drugs are commonly used during general anesthesia to temporarily relax muscles during medical procedures. With pseudocholinesterase deficiency, the body's muscles stay relaxed for a longer time than expected, leading to prolonged paralysis and respiratory complications.

Types of Pseudocholinesterase deficiency

There are two types of pseudocholinesterase deficiency:

1. Autosomal Dominant Pseudocholinesterase Deficiency:** This is the most common type of the disorder, and it is caused by a mutation in the BCHE gene.
2. Autosomal Recessive Pseudocholinesterase Deficiency: This is a rare type of the disorder, and it is caused by a mutation in the BCHE gene.

Causes of Pseudocholinesterase deficiency

The exact cause of pseudocholinesterase deficiency is not yet known, but it is believed to be related to a combination of genetic and environmental factors.

Risk Factors of Pseudocholinesterase deficiency

1. Family History: Having a family history of pseudocholinesterase deficiency increases the risk of developing the disorder.
2. Genetic Mutation: Carrying a genetic mutation in the BCHE gene increases the risk of developing the disorder.
3. Environmental Factors: Exposure to certain environmental toxins or chemicals may also contribute to the development of pseudocholinesterase deficiency.

Symptoms of Pseudocholinesterase deficiency

Preventions of Pseudocholinesterase deficiency

There is no known way to prevent pseudocholinesterase deficiency, but there are steps that can be taken to manage the condition and reduce the risk of developing it.

Diagnosis of Pseudocholinesterase deficiency

Diagnosing pseudocholinesterase deficiency typically involves a combination of physical examination, laboratory tests, and imaging studies.

Treatment for Pseudocholinesterase deficiency

Treatment for pseudocholinesterase deficiency typically involves:

1. Mechanical Ventilation: Mechanical ventilation may be necessary to assist with breathing until the individual can breathe on their own.
2. Anticholinergic Medications: Anticholinergic medications may be used to help manage symptoms such as muscle weakness and fatigue.
3. Surgery: In some cases, surgery may be necessary to repair any damage caused by prolonged paralysis.

When to seek medical attention ?

If you experience any symptoms suggestive of pseudocholinesterase deficiency, such as prolonged paralysis or respiratory complications after receiving succinylcholine or mivacurium, seek medical attention promptly.