Gallstones in People with Down Syndrome

Key Points

• The gallbladder is an important organ for the digestion of food.

• Stones in the gallbladder (gallstones) are more common in people with Down syndrome.

• While the stones often do not cause symptoms and do not need treatment, sometimes they can cause pain and more serious complications.

• Some people with Down syndrome have difficulty reporting the symptoms, and the only observable change may be a behavior change or an appetite change. 

• If causing symptoms, the most common treatment is surgical removal of the gallbladder (along with the stones inside).

 

What is the gallbladder?

The gallbladder is an organ below the liver in the abdominal cavity. It stores bile, which is made in the liver and helps digest fat from the food we eat. When food is eaten (particularly a fatty meal), the body sends a signal to the gallbladder to contract and send bile to the small intestine to help digest the food.

Bile ducts connect the gallbladder to the liver and small intestine. Bile moves between organs through these ducts.

More information on the gallbladder  and bile ducts  is available from the Cleveland Clinic. 

 

What is a gallstone?

Gallstones (cholelithiasis) are hard, pebble-like lumps that form in the gallbladder. They are usually made of cholesterol or bilirubin. 

 

Are gallstones always a medical concern?

No. Many people have gallstones for years without having any symptoms. They might not know they have them, or they might be aware of them because they were seen on a test (usually a CT scan or ultrasound of the abdomen or chest). 

 

What are symptoms of gallstones?

Gallstones usually become symptomatic when a stone (or stones) exits the gallbladder and gets “stuck” in a bile duct. The bile duct contracts with increasing force to try to push the stone through. This can cause significant intermittent or continuous abdominal pain. The pain is commonly in the right upper abdomen, but some people experience pain throughout the abdomen, back pain, chest pain, diarrhea, and/or vomiting. Often the stone will pass on its own and the symptoms will resolve.

However, if the stone is not passed through the duct, additional symptoms and potential complications are more likely to occur including:

• Infection

  • A person may have pain, fever, significant malaise (feeling ill), and even sepsis (a reaction to infections that can cause lowered blood pressure and damage to other organs).

• Lighter color or even white stool

• Dark urine

• Damage to the liver or even liver failure

 

Is there anything unusual or unique about gallstones in people with Down syndrome?

Gallstones have been shown to be more common in infants  and children  with Down syndrome. Gallstones are also more common in adults with Down syndrome. One study  found symptomatic gallstones to be about 3 ½ times more common in adults with Down syndrome compared to adults without Down syndrome.

Some individuals with Down syndrome do not present with the classic symptoms of abdominal pain and vomiting. They may not report any symptoms, but other people may observe changes in facial expressions, behavior, appetite, or demeanor that indicate they do not feel well. Sometimes, it is not until the problem has progressed that individuals with Down syndrome start to display symptoms.

 

Is there anything I can do to reduce the chance of getting gallstones or reduce the symptoms associated with gallstones?

Since eating a fatty meal triggers the body to release the bile from the gallbladder, reducing fat in the diet can sometimes reduce the symptoms of gallstones.

Being overweight or obese increases the chance of developing gallstones. Weight loss may help reduce symptoms.

Interestingly, losing weight rapidly may also increase the chance of developing gallstones. When a person loses weight, the body metabolizes fat. This can lead to extra cholesterol in the bile which can contribute to stone formation.

 

How are gallstones diagnosed?

To diagnose gallstones, the health care provider will:

• Take a good history asking about possible symptoms of gallstone disease.

• Perform a physical exam. 

• Order labs. Blood work may show changes in the liver blood tests. If there is an infection, the white blood cell count may be elevated.

Based on the findings of the above evaluation, the health care provider will decide if it is appropriate to order an ultrasound. An ultrasound of the abdomen or a CT scan of the abdomen can diagnose gallbladder disease. For many gastrointestinal problems, a CT scan is often better at assisting with the diagnosis than an ultrasound. However, for finding gallstones, an ultrasound is generally better. Our experience would support that an ultrasound is better for diagnosing gallstones in people with Down syndrome as well. Several of our patients with Down syndrome have had CT scans that did not show gallstones, but an ultrasound did. 

Additional testing that may be ordered: 

• HIDA scan (cholescintigraphy or hepatobiliary scan) can detect blockages of the ducts and help confirm the gallstones are the cause of the symptoms.

• Magnetic resonance imaging (MRI) can be particularly helpful when a specialized MRI called magnetic resonance cholangiopancreatography (MRCP) is done. It can help determine if there is a blockage caused by the stone.

• Endoscopic retrograde cholangiopancreatography (ERCP) is a test in which an endoscope is passed through the mouth, the esophagus, the stomach, and into the small intestine. A blockage in the duct can be found via this procedure. The scope can also be used to remove the stone that is lodged in the duct. 

Rarely, cancer may be present in the gallbladder; the evaluation noted above should detect a mass caused by the cancer. 

Additional information on diagnosing gallstones  is available from the National Institutes of Health. 

 

What is the treatment for gallstones?

Treatment for gallstones may include: 

• A diet lower in fat. As noted above, reducing fat in one's diet may reduce symptoms due to gallstones. 

• Medications. There are medications that can dissolve gallstones. However, they only work against a certain type of stone (small cholesterol stones) and can take months to years to eliminate the stones. These are usually only used in someone who has a high risk to undergo surgery and who has mild or no symptoms. 

• ERCP. As noted above, this procedure can be done to remove stones in the duct, but it will not address additional stones in the gallbladder.

• Cholecystectomy. This is a surgery to remove the gallbladder. It is most often done with a laparoscope during which a few to several small holes are cut into the abdominal wall and a scope and instruments are passed into the abdomen to remove the gallbladder. It can also be done via an "open" procedure which necessitates a larger incision. 

 

Anything to watch out for after gallbladder surgery?

After gallbladder surgery, some individuals have difficulty with digesting food, particularly fatty foods. These foods may cause diarrhea, abdominal discomfort, or vomiting. Eating foods lower in fat can help reduce the symptoms.