Candle Syndrome
Autoinflammatory syndromes are disorders of the immune system that result in chronic inflammation. Typical symptoms include recurring fevers, skin lesions, rashes, ulcers, joint pain, and inflammation of organs like the liver or intestine. CANDLE syndrome can include all these symptoms. People also may experience fat loss, chronic anemia, and low height and weight.
Causes of Candle Syndrome
Changes to the PSMB8 and related genes are the cause of CANDLE syndrome.
Genetic testing is usually required to confirm the diagnosis.
Unfortunately, genetic testing can sometimes be inconclusive.
The changes to the PSMB8 gene lead to a buildup of protein waste products.
This causes cells to malfunction and leads to an increase in production of certain proteins that cause inflammation (known as interferons), according to the American Journal of Medical Genetics.
Symptoms of Candle Syndrome
Joint and limb pain.
Recurrent fevers.
Enlarged liver and high liver enzymes.
Rash on the face or body consisting of circular red-purple lesions.
Failure to thrive and growth delays.
Swelling of the eyelids, lips, fingers, and toes, often with a red-purple discoloration.
Progressive lipodystrophy (fat loss).
Contractures (tightening of muscles, tendons, joints, ligaments, or skin that restricts movement).
Headaches and seizures.
Enlarged lymph nodes and spleen.
Inflammation of the eye.
Diagnosis of Candle Syndrome
Doctors usually can diagnose CANDLE syndrome through a clinical exam.
Blood tests, imaging, and biopsy of skin lesions may also aid in the diagnosis.
Genetic testing can confirm the diagnosis.
Treatments may benefit your child even if the cause of CANDLE syndrome isn’t clear.
That’s why diagnosis and early intervention matter.
According to Frontiers in Immunology, CANDLE syndrome is usually suspected when a child shows the following symptoms:
Characteristic skin lesions.
Lipodystrophy (fat loss).
Early-onset fevers.
Treatment of Candle Syndrome
More research is necessary to find a standard treatment for CANDLE syndrome.
Early treatment is critical because the risks of leaving CANDLE syndrome untreated are high.
Medications such as corticosteroids and methotrexate are commonly used to reduce inflammation in CANDLE syndrome.
A recent study showed that baricitinib, a drug approved to treat rheumatoid arthritis, was effective for several patients with CANDLE in decreasing symptoms, improving growth, and decreasing the need for steroids.
Doctors tailor care to each patient and aim to manage their pain and symptoms.
This improves the quality of life and prevents high-risk complications like multi-organ inflammation.
Treatments can include physical therapy to prevent joint contractures and nutrition therapy to optimize growth.
Other therapies may be targeted towards affected organs for each patient.
Also, you should get regular clinical follow-ups and consistent joint, eye, and skin exams.
These appointments can help keep a close eye on inflammatory attacks.