children s health issues
Familial Mediterranean Fever
Diagnosis of Familial Mediterranean Fever
A doctor's evaluation Genetic testing A doctor usually bases the diagnosis of familial Mediterranean fever on typical symptoms. However, the abdominal pain of familial Mediterranean fever is virtually indistinguishable from that of other abdominal emergencies, particularly a ruptured appendix. Thus, some people with this disorder have urgent surgery before the correct diagnosis is made. No routine laboratory test or imaging test is by itself diagnostic, but such tests can be useful in excluding other disorders. Blood tests can identify the abnormal gene that causes this disorder and can thus sometimes help with the diagnosis. Because some people with typical familial Mediterranean fever have only one rather than two copies of the gene or occasionally have no detectable mutations in the gene, genetic test results may be negative. In these cases, people should receive genetic counseling and care from specialists who are experienced with familial Mediterranean fever. 