Introduction
Familial cold autoinflammatory syndromeIt is a periodic fever syndrome. Signs and symptoms may include itchy or hot rashes; fever; and joint pain triggered by exposure to low temperatures. It is inherited in an autosomal dominant manner and may be caused by a mutation in the NLRP3 or NLRP12 gene. Management of this situation involves avoiding exposure to low temperatures and the use of specific types of medications.
Cause
Familial cold autoinflammatory syndrome is caused by any one of two genes (mutations): NLRP3 or NLRP12. These genes often provide instructions for engaging proteins in the immune system to help regulate the inflammatory process. Changes in these genes can weaken the body's mechanisms of controlling inflammation, leading to signs and symptoms of this condition.
symptom
Symptoms and signs of familial cold spontaneous inflammatory syndrome may include rashes, fever and joint pain caused by exposure to cold temperatures. The rash usually begins with the exposed arms and legs and extends to the rest of the body. The rash may consist of red patches, urticaria (urticaria) and ecchymoses. A rash can cause burning or itching. Conjunctivitis during fever is also common. Other symptoms include swelling, muscle aches, lots of sweating, lethargy, headache, extreme thirst and nausea.
After cold exposure, symptoms may begin between 10 minutes and 8 hours. A fever attack can last from a few hours to three days. Most patients with familial cold spontaneous inflammatory syndrome experience the first fever in the first year of life, and many people develop during the first day of life. It keeps happening throughout life.
diagnosis
Familial cold autoinflammatory syndrome (FCAS) is primarily a clinical diagnosis, which means that it is primarily based on the presence or absence of specific signs and symptoms and family history. Diagnostic criteria have been proposed to distinguish FCAS from acquired cold urticaria and other periodic fever diseases. The criteria include: frequent fever and rash, mainly following cold exposure; autosomal dominant patterns of disease in the family; age of onset is less than 6 months; most attacks last less than 24 hours; conjunctivitis associated with the attack; No deafness, swelling around the eyes, swollen lymph nodes and serositis. Four of the six criteria strongly indicate a diagnosis of FCAS. The diagnosis of FCAS may also be confirmed by genetic testing in some affected individuals.
treatment
Familial cold spontaneous inflammation syndrome (FCAS) is generally recommended to avoid exposure to cold temperatures. Bed rest, warm and corticosteroids can be used to treat acute attacks. Treatment can include the use of biological agents (drugs derived from living substances) that can control the symptoms of FCAS by blocking interleukin-1; they are referred to as selective recombinant interleukin-1 receptor agonists. Examples of such agents are Reloncap, Anakinra and CaaKimuAb. These drugs have been reported to have a significant beneficial effect on the quality of life of FCAS patients.
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