In a variety show, the genetic test of the singer Wuyi showed a familial Mediterranean fever gene mutation. At that time, he was stunned, what kind of disease is this? But when I think of the words “Mediterranean”, I ask will I go bald?
In fact, baldness has nothing to do with this disease. Few people in life should know what kind of disease this is.
The reason why I want to talk to you about this disease today is that a mother whose child was just 6 years old was diagnosed with familial Mediterranean fever. At the beginning, the child had repeated fever, and the cause could not be found, and sometimes a rash would appear on the body at the same time as the fever. The hospital’s initial diagnosis was juvenile idiopathic arthritis, but after a long time of treatment in this direction, it was ineffective. Later, it was transferred to a larger hospital and it was confirmed that it was familial Mediterranean fever.
What is Familial Mediterranean Fever?
Familial Mediterranean fever is an inherited autoinflammatory disease that was discovered in 1947 and is recurrent.
As the name suggests, this disease is prone to occur in people in the Mediterranean region such as North Africa, Armeria, Turkey, etc. The first case in my country appeared in 1999. Although familial Mediterranean fever accounts for 38.9% of autoinflammatory diseases, it is a rare disease in terms of overall incidence.
At what age do people with familial Mediterranean fever first develop symptoms?
According to research, familial Mediterranean fever shows great regional differences in clinical manifestations.
About 20% of patients in Europe and the United States have their first attack before the age of 2, 67% of the patients have the disease before the age of 10, 90% of the patients have the disease before the age of 20, and a few appear before the age of 20. Onset after the age of 50 is even rarer.
At present, there are 7 adult cases in China, the average age of onset is 30 years old, and 12 children, all of whom have onset before the age of 10.
In general, there are few domestic cases, there is no epidemiological basis for widespread familial Mediterranean fever, and the main age of onset is also lacking sufficient data to support.
What are the symptoms of familial Mediterranean fever?
Familial Mediterranean fever is mainly accompanied by abdominal pain, chest pain, arthralgia and rash in addition to fever symptoms. The symptoms generally last for 1 to 3 days and then gradually subside.
Abdominal pain/chest pain: Abdominal pain and chest pain in patients with familial Mediterranean fever are often misdiagnosed as appendicitis. In fact, abdominal pain/chest pain are mainly manifestations of serosal cavity inflammation, sometimes accompanied by nausea , vomiting, diarrhea and other symptoms.
Joint pain: Can be triggered by some trauma, and symptoms tend to peak within 48 hours. Commonly manifested as single-joint pain in the knee, ankle and hip joint, and rarely manifested as migratory joint pain, joint fluid was found to be sterile during examination, with a large number of granulocyte infiltration, often misdiagnosed as juvenile idiopathic joint inflammation.
Rash: Usually a painless, red rash on the lower legs, ankles, and feet. Due to the accompanying systemic fever, it is often misdiagnosed as an infectious disease.
According to the study, among the 7 adult cases in China, 57% had abdominal pain/diarrhea, 29% had chest pain and joint pain, and had no rash symptoms;12 Among the children, 91.7% had serositis, 75% had arthralgia, and 41.67% had rash.
What are the course and characteristics of familial Mediterranean fever?
The symptoms of most patients will quickly peak within 48 hours, including fever, pain and other symptoms. The symptoms generally last for 3 to 5 and then gradually subside, and a few last for about 2 weeks.
Although familial Mediterranean fever is recurrent, the intervals between episodes are irregular, and there are no symptoms at all between episodes.
Familial Mediterranean fever patients mostly have a fever temperature between 38 and 40 degrees, and a few show low fever.
What is the cause of Familial Mediterranean Fever?
The causative gene MEFV of familial Mediterranean fever was first identified in 1992 and encodes an inflammatory protein located on chromosome 16p13.3. Most patients have mutations in both MEFV genes, which is also in the absence of any bacterial infection. In cases where the patient spontaneously initiates inflammation.
Since familial Mediterranean fever is caused by genetic mutations, that is, some patients have an autosomal dominant inheritance.
What should people with familial Mediterranean fever pay attention to in their lives?
Familial Mediterranean fever disease is recurrent and hereditary, but its patients live like ordinary people and do not make special demands. Regularly ensure a healthy and diverse diet, ensure adequate protein and vitamin intake, and moderate exercise.
Can Familial Mediterranean Fever be Prevented?
Some people may ask, since familial Mediterranean fever is a genetic disease, can it be prevented by genetic testing during pregnancy?
Currently, the genes associated with familial Mediterranean disease are still unclear, and therefore cannot be effectively screened and prevented through prenatal testing.