Pseudocholinesterase Deficiency – Symptoms and Causes
Overview
Pseudocholinesterase deficiency makes people more sensitive to certain muscle relaxants used during surgery. The main drug that causes problems is succinylcholine.
This drug normally relaxes muscles briefly during medical procedures. However, in people with this condition, muscles stay relaxed much longer than expected.
When this happens, patients cannot move or breathe on their own for several hours. They need help from a breathing machine (ventilator) until the effects wear off. This condition can be genetic or caused by illness, injury, or certain medications.
There’s no cure for pseudocholinesterase deficiency. However, doctors can manage the condition by:
- Using alternative muscle relaxants that don’t cause extended paralysis
- Monitoring patients carefully during surgical procedures
- Using ventilator support when necessary
If you have this condition, it’s important to:
- Alert all healthcare providers before any procedure
- Wear a medical alert bracelet
- Make sure family members are tested, as the condition can be inherited
Symptoms
Most individuals with pseudocholinesterase deficiency experience no symptoms during daily life. Signs only appear when exposed to certain medications, particularly the muscle relaxant succinylcholine used during anesthesia.
When symptoms do occur, they include:
- Prolonged muscle relaxation
- Extended muscle paralysis (lasting hours longer than normal)
- Inability to move independently
- Inability to breathe without assistance
The duration of these symptoms varies significantly between affected individuals. During this extended period of paralysis, patients require continued medical support and mechanical ventilation until the medication effects naturally subside.
When to Talk to Your Doctor
Tell your doctor if someone in your family has pseudocholinesterase deficiency or had problems with anesthesia during a medical procedure. This information is important to share before you have any procedure that uses anesthesia.
Causes of Enzyme Deficiency
Inherited Enzyme Shortage
People with inherited enzyme shortage have genetic changes in the BCHE gene. This gene tells the body how to make an important enzyme that breaks down certain drugs used during medical procedures.
When someone has this genetic condition, they either:
- Produce no enzyme at all
- Make an enzyme that doesn’t work properly
This is passed down in families through autosomal recessive inheritance. This means:
- A person needs two changed genes (one from each parent) to have the condition
- People with just one changed gene are carriers
- Carriers may process certain drugs more slowly than normal but won’t have full symptoms
- Carriers can pass the gene change to their children
Genetic testing can identify if someone has these gene changes.
Acquired Enzyme Shortage
Some people develop enzyme shortage due to other health conditions or factors rather than genetics. This type isn’t passed down to children.
Several situations can reduce enzyme production:
| Causes | Examples |
|---|---|
| Diseases | Kidney or liver disease, chronic infections |
| Physical conditions | Severe burns, cancer |
| Nutritional issues | Malnutrition |
| Life stages | Pregnancy |
| Medications | Certain prescription drugs |
Unlike the inherited form, this type happens when something affects how much enzyme the body makes. Once the underlying cause is addressed, enzyme levels may return to normal.
The shortage affects how long certain drugs stay active in the body. For example, muscle relaxants used during surgery may keep working for hours longer than expected. This prevents normal movement and breathing until the body can finally process the medication.
How severe the effects are depends on:
- How much enzyme is present
- How well that enzyme works
Risk Factors
Your chances of having pseudocholinesterase deficiency increase if you have:
- Genetic variations that cause the disorder
- A family member (parent, sibling, or child) with the condition
- A personal or family history of unexpected reactions during anesthesia
Prevention
People with a family history of pseudocholinesterase deficiency should inform their healthcare providers before any procedure requiring anesthesia. This helps doctors plan safely.
Testing before surgery can prevent problems during anesthesia for those with a family history of this condition. The test results enable healthcare teams to make informed decisions about which medications to use.
When healthcare providers know a patient has risk factors, they can avoid certain muscle relaxants. By evaluating the risk of pseudocholinesterase deficiency beforehand, doctors can choose alternative medications that won’t cause complications during surgery.
