Gout is an inflammatory condition that affects your joints. It’s caused by hyperuricemia, or high levels of urate in your blood.
Urate, also called uric acid, is the end product of purine metabolism. Purines are chemical compounds that help make up your DNA and RNA. They’re also found in meat.
Normally, urate is excreted through your urine. But if it builds up in your body, it may form crystals and build up in your joints. This causes inflammation, resulting in gout.
Both genetic and environmental factors contribute to the condition. Specifically, the genetic factors affect your body’s ability to excrete urine.
Read on to learn about gout and genetics, as well as when you should see a doctor or healthcare professional.
Gout is partly genetic. In other words, if you have a relative with gout, it may be passed on to you.
The condition involves genes that control urate transporters. Urate transporters regulate urate excretion.
If one of these urate-related genes has a variation, it may lead to gout. What’s more, there are dozens of potential gene variations, and it’s possible to have more than one.
To date, research has found the strongest link is between gout and the genes solute carrier family 2 member 9 (SLC2A9) and adenosine triphosphate (ATP) binding cassette subfamily G member 2 (ABCG2):
SLC2A9
The SLC2A9 gene helps make a protein that’s mainly found in your kidneys. Your kidneys are in charge of filtering blood and excreting waste as urine.
The protein helps reabsorb urate into your bloodstream. It also helps excrete urate in your urine.
A variation in the SLC2A9 gene may increase your urate reabsorption or lower your urate excretion. This can lead to hyperuricemia, potentially leading to gout.
ABCG2
The ABCG2 gene helps make a protein that’s mainly found in your gut and liver.
The protein is in charge of releasing urate into your gut. This allows urate to be excreted from your body via stool, or poop.
But if the ABCG2 gene has a variation, the protein will be unable to properly release urate into your gut. This can lower your urate excretion, leading to excess urate levels.
The heritability of gout is 65 percent. Heritability is the measurement of a genetic influence.
Overall, it’s estimated that 20 percent of people with gout have a relative with the condition. Your risk is higher if it’s a first degree relative, such as a sibling or a parent.
You’re more likely to develop gout if you:
- have a relative with gout
- are a person assigned male at birth
- have obesity
- take certain medications, such as diuretics, or medication that helps your body produce urine
- drink alcohol
- consume high-fructose foods, such as sweetened beverages
- consume high-purine foods, such as red meat or organ meat
- have poor kidney function
- have conditions such as congestive heart failure, metabolic syndrome, diabetes, or high blood pressure
It’s possible to get genetic testing for gout. The test checks for risk alleles, or genetic variations, that are related to risk of gout.
The more risk alleles you have, the more likely you are to develop gout. According to a 2016 study, people with five or more risk alleles have a higher risk of gout than those who have four or less.
A doctor can let you know if you should get genetically tested for gout.
If a doctor thinks you have gout, they’ll likely use the following tests:
- Medical history. The doctor will ask about your symptoms and examine your joints. They’ll also want to learn more about your family history and other medical problems.
- Blood test. A blood test can check the urate levels in your blood.
- Synovial fluid analysis. A synovial fluid analysis examines the fluid in your joints. When diagnosing gout, a doctor can have the fluid checked for urate crystals.
- Imaging tests. A doctor may order an ultrasound, which can check the buildup of urate crystals in your joints.
The primary symptom of gout is pain in the affected joints. The pain is known as a flare.
For most people, their pain affects one specific joint. It typically first occurs in one of your big toes, but it can also appear elsewhere. The pain is cause by uric acid crystals in your joints. Large deposits of these acid crystals are called tophi.
Other sypmtoms of gout include:
- intense pain that often starts at night
- swollen, stiff, and warm joints
- pain that lasts days or weeks
If you’ve received a diagnosis of gout, visit a doctor regularly. This will allow your doctor to monitor your symptoms and manage your condition.
You should also get medical help if you have:
- sudden severe joint pain, especially in your big toe
- persisting or worsening joint pain
- swelling over a joint
- fever
Since gout is partly genetic, it may not be totally possible to prevent it. But there are some things you can do to lower your risk:
- limit or avoid alcohol
- keep up a moderate weight
- manage chronic conditions such as diabetes or kidney disease
- eat a healthy, balanced diet
If you think you have gout, or if you’re at high risk, see a doctor regularly. If you do develop gout, you can start treatment as soon as possible and avoid complications.
Gout is a chronic inflammatory condition caused by excess levels of urate. Genetics can play a role in its development, meaning the condition can be inherited.
There are many genes and gene variations that can affect your risk of gout. The strongest link has been found with the genes SLC2A9 and ABCG2. Both genes influence how your body excretes urate.
If you have a family history of gout, ask a doctor about genetic testing. This can help determine your risk of developing the condition.