Pompe Disease and Anesthesia

People with Pompe disease will likely need, at some point, to undergo medical procedures that require anesthesia. Here is information about the different forms of anesthesia, how Pompe disease may complicate its use, and precautions doctors should take.

What is Pompe disease?

Pompe is a rare genetic disease caused by mutations in the GAA gene. This gene provides the information necessary for cells to make a protein called acid alpha-glucosidase, which plays a role in the breakdown of a complex sugar called glycogen. Glycogen is typically stored in the muscles and liver. When it is not broken down as it should be, it builds to toxic levels inside cells, leading to disease symptoms.

There are three major types of Pompe disease: classic infantile-onset, non-classic infantile-onset, and late-onset Pompe disease.

In classic infantile-onset Pompe disease, symptoms appear within the first few months of life. Infants often have muscle weakness, breathing problems, feeding difficulties, and heart problems.

Non-classic infantile-onset Pompe disease occurs slightly later in infancy. Symptoms are usually not as severe as the classic form. But these children can develop breathing problems due to progressive muscle weakness, and show delayed motor skills.

Symptoms of late-onset Pompe disease can occur anytime after the first year and even into early adulthood. However, the later they appear, the less severe they tend to be and the heart is not as likely to be affected. Muscle weakness continues with disease progression, however, and those related to breathing can lead to respiratory problems.

What is anesthesia?

Anesthesia involves the use of medications to prevent pain during medical procedures. There are four main categories of anesthesia: general anesthesia, regional anesthesia, local anesthesia, and sedation.

In general anesthesia, doctors give the patient medication intravenously or via inhaled gases, or a combination of the two, to render them unconscious and unresponsive to pain. They monitor patients continuously for changes in blood oxygen levels, blood pressure, breathing, and heart rate.

In regional anesthesia, patients are fully awake but medications block pain signals to large portions of the body. This is typically done through injections into peripheral nerves (peripheral nerve block) or the spinal column (epidural).

Local anesthesia is given to block pain signals to a small portion of the body, as might be needed to put in stitches, take a biopsy or repair a broken bone. Doctors ofter administer the medication through injections, sprays, or ointments.

Sedation can vary in strength, from making patients feel drowsy to not being able to remember anything afterward, and generally used when minor surgeries call for more than a local anesthetic. Sedation is typically combined with analgesics (painkillers).

When might a patient need anesthesia?

The procedures for which a Pompe patient may need anesthesia largely depend on which type of disease they have. But a common surgery with Pompe disease is the installation of central lines for long-term use of enzyme replacement therapy (ERT).

Patients may also require anesthesia for diagnostic biopsy procedures, in which doctors take a piece of muscle to look at glycogen and acid alpha-glucosidase levels.

Younger children who are having difficulty breathing may require a tracheostomy to aid in breathing. Other procedures that can be given pediatric patients include gastrostomy tube implantation for feeding, a gastrojejunostomy to make a connection between the stomach and small intestine, fundoplication surgery to wrap the top of the stomach around the esophagus to help prevent acid reflux, and a bronchoscopy to view the airways.

Patients with late-onset Pompe disease may at some point need procedures common for the general population. Due to their disease, they may also need surgery for ear infections, orthopedic problems such as scoliosis and hip dysplasia, and injuries caused by falls.

Possible complications of anesthesia in Pompe disease

Patients with Pompe disease are at a higher risk of anesthesia complications due to respiratory or cardiovascular problems. Many patients, especially those with the infantile-onset form of the disease, have enlarged hearts. Heart enlargement and the buildup of glycogen in cells can lead to high blood pressure and arrhythmia. General anesthesia can lower blood flow to the heart, worsening arrhythmia.

Some anesthetics can also affect the strength of muscle contractions, which can further affect the already weak muscles that are important for breathing. This can lead to respiratory problems and a possible need for ventilation during the procedure.

There are reports of patients experiencing rhabdomyolysis (the breakdown of muscle fibers into the blood) and hyperkalemia (high levels of potassium) when suxamethonium is used with general anesthesia.

What precautions should doctors take?

Due to the high risk of cardiovascular and respiratory complications during general anesthesia, especially for infants and children, doctors may prefer to use regional anesthetics such as femoral nerve block and caudal nerve block.

Prior to surgery, patients should undergo extensive preoperative diagnostic procedures, including electrocardiography and echocardiography to evaluate the structure and function of the heart for irregular shapes or rhythms.

Doctors should also aim to perform multiple surgeries, as appropriate, at the same time to limit the number of times the patient has to receive anesthesia. If general anesthesia is necessary, patients should undergo this under close monitoring, and at an institution familiar with patients with Pompe or a similar disease.

Last updated: Oct. 20, 2020

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