Thelansis

  Familial Mediterranean Fever (FMF) is an autoinflammatory genetic disorder characterized by recurring fevers and inflammation in the abdomen, lungs, and joints, causing severe pain. Symptoms may include a rash or headache. The onset of symptoms usually occurs in childhood and before the age of 20 years, with attacks manifesting within 2 to 4 hours and lasting 6 hours to 4 days. Mutations cause FMF in the MEFV gene on chromosome 16p13.3. Over 300 MEFV mutations have been identified, with 70 to 80% of cases attributed to V726A, M680I, E148Q, M694V, and M694I mutations. Pyrin plays a role in the pathophysiology of FMF, as it is found in the cytoskeleton of circulation cells, including white blood cells, which play a role in the immune response to pathogens. Mutations in the MEFV gene disrupt pyrin and its function, activating the inflammatory pathway through IL-1beta. Treatment for FMF involves using colchicine to prevent attacks, normalize inflammation, and prevent the developmen...

 Familial Mediterranean Fever (FMF) is an autoinflammatory genetic disorder characterized by recurring fevers and inflammation in the abdomen, lungs, and joints, causing severe pain. Symptoms may include a rash or headache. The onset of symptoms usually occurs in childhood and before the age of 20 years, with attacks manifesting within 2 to 4 hours and lasting 6 hours to 4 days. Mutations cause FMF in the MEFV gene on chromosome 16p13.3. Over 300 MEFV mutations have been identified, with 70 to 80% of cases attributed to V726A, M680I, E148Q, M694V, and M694I mutations. Pyrin plays a role in the pathophysiology of FMF, as it is found in the cytoskeleton of circulation cells, including white blood cells, which play a role in the immune response to pathogens. Mutations in the MEFV gene disrupt pyrin and its function, activating the inflammatory pathway through IL-1beta. Treatment for FMF involves using colchicine to prevent attacks, normalize inflammation, and prevent the development o...