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Family History and Rare Genetic Diseases

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Cryopyrin-Associated Periodic Syndromes (CAPS) are genetic diseases, which means they can run in families. They are caused by an abnormality in a particular gene. The affected gene called NLRP3 is one that is related to the production of a protein called cryopyrin, which gives the syndrome its name.

This altered gene can be passed down from parents to children. We are all born with 2 copies of each gene—1 from each of our parents. With diseases such as CAPS, it only takes 1 copy of the abnormal gene to actually have the disease. Therefore, when a person with the mutated gene for cryopyrin has a child, there is a 50% chance he or she will pass on the abnormal gene that causes CAPS-associated genetic diseases.

Sometimes, the gene for CAPS can be traced back many generations. It can be helpful to think back through your family history, or to discuss it with family members, to see if other relatives experienced similar symptoms throughout their lives.

However, sometimes mutations in the gene happen at random without anyone else in the family having the genetic disease.

For these reasons, it’s important for you to talk to your doctor if you think you might have any of the subtypes of CAPS.

You might find a link to a family member diagnosed with one of the CAPS-inherited diseases. You might discover another family member who is suffering from symptoms of the hereditary disease but doesn’t know what it is. Knowledge of family connections to CAPS can be valuable to the health of future generations.