Gout is more common in people with Down syndrome (DS) (as indicated by the studies at this link and this link). Gout is a type of inflammatory arthritis caused by a build-up of uric acid in the body. People who experience gout typically have an elevated amount of uric acid in their blood. People with Down syndrome - with and without symptomatic gout - tend to have elevated amounts of uric acid in their blood.
When uric acid builds up, urate crystals can form. The urate crystals can cause the body to have an inflammatory response. This commonly occurs in joints, often in the joint at the base of the big toe, and can cause swelling in and around the joint, redness, and pain. The pain can be quite intense and can last for several days or even weeks.
Gout can be diagnosed by collecting fluid from the joint using a needle. The fluid is sent to a lab to look for urate crystals. Pseudogout or calcium pyrophosphate deposition is another condition that has similar symptoms as gout. However, when fluid is collected and analyzed, it contains calcium pyrophosphate instead of urate crystals.
Sometimes, the procedure to collect fluid is not done and the diagnosis of gout is presumed based on the symptoms and elevated uric acid levels detected through a blood test. Gout may be over diagnosed in people with DS since this procedure is often done done.
When someone experiences an acute attack or flare of out, they are usually treated with medication to reduce the inflammation. These can include:
- Non-steroidal medications (e.g., ibuprofen and naproxen)
- Oral steroids (e.g., prednisone)
- A steroid injection into the joint
- Interleukein-1 inhibitors
Prevention is important between attacks. Dietary measures are a first step. People who experience gout are encouraged to avoid foods that are high in purines. Purines are chemical compounds that are found naturally in our bodies as well as in certain foods. When purines are metabolized, uric acid is produced. Foods that are high in purines include red meat, seafood, and alcohol. Foods that contain large amounts of fructose also appear to contribute to gout.
There are many different gout diet recommendations. There is not universal agreement in the medical literature on what foods are associated with gout. One rheumatologist I have spoken with explained, "There is likely a great deal of variation in people with gout as to what foods increase uric acid and symptomatic episodes. Therefore, depending on the experience of the individuals studied and the author, you will likely find some differences in the recommendations." Additional information on dietary measures are reported on websites by the Gout Education Society, Massachusetts General Hospital, and the Mayo Clinic.
Other non-medicinal prevention measures include reducing risk factors for elevation of uric acid such as:
- Losing weight if overweight or obese
- Reducing insulin resistance through regular exercise, weight loss (if overweight or obese), and limiting sugar and other simple carbohydrates
- Treating hypertension (high blood pressure)
- Reviewing medications (there are several that may increase uric acid and acute gout attacks)
When trying to prevent gout attacks, the goal is to reduce the uric acid level in the blood to less than 6 mg/dl. When non-medicinal measures are not sufficient and someone is having recurrent acute gout attacks and/or damage to the joints, medications to lower uric acid and prevent gout attacks are considered. The medications include:
- Allopurinol. It is probably the most used and recommended preventive medication to start with.
- Febuxostat. It works similarly to allopurinol and is usually considered if allopurinol does not adequately reduce the uric acid level.
- Probenecid. It is recommended if allopurinol and febuxostat are not tolerated.
- Pegloticase. This medication is given intravenously and is typically fourth in line if the other three are not tolerated and/or not sufficient.
In addition to the above medications, "suppressive therapy" is sometimes used to help prevent recurrences while the prevention medications are taking full effect. The suppressive medications are the medications used to treat acute gout noted above including the non-steroidal medications, oral steroids, and colchicine.
Find more resources on health and wellness of adults with Down syndrome in our online Resource Library at this link.