Pseudocholinesterase Deficiency
Overview
Pseudocholinesterase deficiency is a rare condition where your body doesn't process certain muscle relaxants correctly. This can happen if you have a genetic change (a mutation) that runs in your family, or if you're sick, injured, or taking certain medicines.
These muscle relaxants, like succinylcholine, are used during surgery or other medical procedures to temporarily relax your muscles. In people with pseudocholinesterase deficiency, the medication doesn't break down as quickly as it should. This means your muscles stay relaxed for longer than intended, sometimes for several hours.
This prolonged muscle relaxation can cause temporary paralysis. You might not be able to breathe or move on your own. You might need a breathing machine (ventilator) to help you breathe until your body can start working normally again.
A similar muscle relaxant, mivacurium, is no longer used in the US. However, it's still used in some other countries.
Unfortunately, there's no cure for pseudocholinesterase deficiency. But if you have this condition, your doctor can choose different muscle relaxants that won't cause the same problem. They can also monitor you closely during procedures to make sure you're safe.
Symptoms
Many people with a condition called pseudocholinesterase deficiency don't experience any problems until they receive a medication called succinylcholine. This medication is often used during surgery or other procedures to help with anesthesia.
If you have this deficiency, succinylcholine can cause muscle relaxation or even paralysis that lasts significantly longer than usual. This means you might not be able to move or breathe on your own for a longer period. How long this lasts can differ greatly from person to person.
When to see a doctor
If you have a family history of a condition affecting how your body breaks down certain medicines, or if a family member has ever had trouble with anesthesia during a medical procedure, be sure to tell your doctor before any procedure requiring anesthesia.
Causes
People with a condition called pseudocholinesterase deficiency don't have enough of a specific enzyme in their bodies. This enzyme, pseudocholinesterase, helps the body break down certain medicines, including a type of muscle relaxant used during surgery.
This muscle relaxant, succinylcholine, is used to help keep patients still during procedures. In people with pseudocholinesterase deficiency, their bodies take longer to break down this drug. This means their muscles stay relaxed for longer than usual, potentially making it harder to breathe and move on their own for a few hours after the surgery. The length of time this effect lasts depends on how much of the enzyme their body produces and how effectively it works.
This deficiency can be passed down through families (inherited) or it can develop later in life (acquired).
Risk factors
If you or a close family member (like a parent, child, or sibling) has a genetic change linked to pseudocholinesterase deficiency, your risk of having this condition is higher. This also applies if someone in your immediate family has had a problem during anesthesia that doctors suspect might be due to pseudocholinesterase deficiency. Essentially, a family history of this condition or a suspected connection to anesthesia issues increases your chances of having it yourself.
Prevention
If you or any close family member has a history of problems with anesthesia or a condition called pseudocholinesterase deficiency, it's crucial to tell your doctor before any medical procedure requiring anesthesia.
Having a family history of pseudocholinesterase deficiency means you might be more likely to have a reaction to certain medications used during anesthesia. This condition can affect how your body processes these drugs.
To help prevent problems, you can get tested for pseudocholinesterase deficiency before your procedure. This testing lets your doctor know if you need to avoid specific muscle relaxants that might cause complications. Knowing this beforehand helps your doctor choose the safest and most effective anesthesia plan for you.
Diagnosis
Some people have trouble recovering from muscle relaxants used during surgery. This can happen if they have a low level of a specific enzyme called pseudocholinesterase. If you experience problems regaining muscle control and breathing after receiving succinylcholine, a muscle relaxant, a doctor might suspect a deficiency in this enzyme. A simple blood test can confirm if you have enough of this enzyme.
If a doctor suspects an inherited form of this enzyme deficiency, they can use a genetic test to find out if a specific gene change is causing the problem. This involves taking a blood sample and sending it to a lab for testing. It's a good idea to discuss testing with your doctor, and if appropriate, whether family members might also want to be tested before undergoing surgery.
Treatment
People with a condition called pseudocholinesterase deficiency need extra care during procedures involving anesthesia. This condition means their bodies don't process certain medications, like muscle relaxants, normally.
During surgery or other procedures requiring anesthesia, an anesthesiologist will carefully choose the right medications. If someone has pseudocholinesterase deficiency, the anesthesiologist will avoid using a medication called succinylcholine. This is because succinylcholine can cause the muscles to relax for too long, leading to a longer recovery time. Instead, the anesthesiologist will use other muscle relaxants that won't cause this problem.
There's no cure for pseudocholinesterase deficiency. If someone with this condition receives a muscle relaxant that prolongs the recovery from anesthesia, they might need extra help breathing. This could involve a machine to assist with breathing (a ventilator) and medication to help them relax and sleep while their body recovers. This process might take several hours.
People with pseudocholinesterase deficiency can also be sensitive to other types of medications, including local anesthetics. These are used for numbing areas of the body during procedures. Some examples of local anesthetics that someone with this condition may be sensitive to include procaine, tetracaine, benzocaine, and cocaine.
To ensure proper medical attention if needed, people with pseudocholinesterase deficiency should wear a medical alert bracelet or necklace and carry a wallet card. This tells medical professionals about the condition, especially in emergency situations. This will help medical staff be prepared and take the necessary precautions.
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