About Pseudocholinesterase Deficiency

What is Pseudocholinesterase Deficiency?

Pseudocholinesterase deficiency is an inherited disorder that affects the body's ability to break down certain medications, such as certain muscle relaxants and anesthetics. People with this disorder may experience prolonged or exaggerated effects of these medications, which can lead to serious side effects.

What are the symptoms of Pseudocholinesterase Deficiency?

The symptoms of Pseudocholinesterase Deficiency can vary depending on the severity of the deficiency. Common symptoms include:

- Muscle weakness
- Excessive salivation
- Abnormal heart rate
- Abnormal breathing
- Nausea and vomiting
- Sweating
- Confusion
- Seizures
- Coma
- Death (in severe cases)

What are the causes of Pseudocholinesterase Deficiency?

Pseudocholinesterase deficiency is caused by a genetic mutation in the BCHE gene, which is responsible for producing the enzyme pseudocholinesterase. This mutation can be inherited from either parent, or it can occur spontaneously.

What are the treatments for Pseudocholinesterase Deficiency?

1. Avoiding drugs that are metabolized by pseudocholinesterase, such as succinylcholine, mivacurium, and ester-type local anesthetics.

2. Administering drugs that are not metabolized by pseudocholinesterase, such as rocuronium, vecuronium, and non-ester-type local anesthetics.

3. Administering anticholinesterase drugs, such as neostigmine and edrophonium, to reduce the effects of succinylcholine.

4. Administering anticholinergic drugs, such as atropine, to reduce the effects of succinylcholine.

5. Administering benzodiazepines, such as diazepam, to reduce the effects of succ

What are the risk factors for Pseudocholinesterase Deficiency?

1. Family history of the condition
2. Certain ethnic backgrounds, including Ashkenazi Jews, Greeks, Italians, and Armenians
3. Certain medications, such as succinylcholine, which is used during surgery
4. Certain medical conditions, such as liver disease or kidney failure
5. Certain genetic mutations, such as those in the BCHE gene

Is there a cure/medications for Pseudocholinesterase Deficiency?

Yes, there are medications available to treat Pseudocholinesterase Deficiency. These medications are designed to reduce the amount of pseudocholinesterase in the body, which can help reduce the symptoms associated with the condition. Additionally, some lifestyle changes, such as avoiding certain medications and foods, can also help reduce symptoms.