Which are the symptoms of Cryopyrin-associated periodic syndrome?

Cryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disorder that belongs to a group of conditions known as hereditary periodic fever syndromes. CAPS is caused by mutations in the NLRP3 gene, which leads to the overproduction of a protein called cryopyrin. This excessive production of cryopyrin triggers an inflammatory response in the body, resulting in a range of symptoms.

The symptoms of Cryopyrin-associated periodic syndrome can vary in severity and may include:

• Fever: Recurrent episodes of fever are a hallmark of CAPS. The fever can range from mild to high-grade and may last for several days.


• Skin rash: Many individuals with CAPS develop a distinctive rash during episodes of inflammation. The rash is typically red and raised, often appearing on the trunk, limbs, or face.


• Joint pain and swelling: CAPS can cause joint inflammation, leading to pain, swelling, and stiffness. The joints most commonly affected are the knees, ankles, and wrists.


• Headaches: Recurrent headaches, often described as migraines, are common in CAPS. These headaches can be severe and accompanied by other symptoms such as sensitivity to light and sound.


• Eye symptoms: CAPS can affect the eyes, causing conjunctivitis (inflammation of the outermost layer of the eye) and uveitis (inflammation of the middle layer of the eye). This can result in redness, pain, and blurred vision.


• Hearing loss: Some individuals with CAPS may experience progressive hearing loss, which can be unilateral or bilateral. This hearing loss is often sensorineural, meaning it affects the inner ear.


• Fatigue: Chronic fatigue is a common symptom in CAPS. Individuals may feel tired and lack energy, even during periods of remission.


• Abdominal pain: CAPS can cause recurrent abdominal pain, which may be accompanied by nausea, vomiting, and diarrhea. These gastrointestinal symptoms can mimic other conditions, making diagnosis challenging.


• Amyloidosis: In severe cases of CAPS, there is a risk of developing amyloidosis. Amyloidosis is a condition where abnormal proteins called amyloids build up in organs and tissues, leading to organ damage and dysfunction.

It's important to note that the symptoms of CAPS can vary between individuals and may change over time. Some individuals may experience mild symptoms, while others may have more severe and debilitating manifestations of the condition.

If you or someone you know is experiencing symptoms suggestive of Cryopyrin-associated periodic syndrome, it is crucial to seek medical attention for proper diagnosis and management. Early diagnosis and treatment can help alleviate symptoms, prevent complications, and improve quality of life.