A 30-year-old male with no toxic habits presented with fever and abdominal and chest pain.
The patient reported similar recurrent episodes in the last five years.
On one occasion, she was diagnosed with probable acute abdomen and was about to undergo laparotomy.
The current episode presents with fever of 39.5°C, abdominal pain and pleuritic pain in the right hemithorax of 24 hours of evolution.
Examination showed a painful abdomen, especially in the right iliac fossa, with signs of peritoneal irritation.
Laboratory tests showed CRP 25 mg/dl and leukocytes 18.109/ml. Chest X-ray was normal and abdominal ultrasound showed no evidence of acute colitis.
Analgesic treatment was initiated with remission of symptoms within 24 hours and the patient was discharged.
Subsequently, an outpatient study was conducted with abdominal CT and fibrocolonoscopy, which were normal.
Total remission of the symptoms, history of recurrent episodes and negativity of the tests performed were oriented as a possible FMF, becoming a genetic study.
It showed two MEFV gene mutations: one in exon 2, detecting the substitution of guanine nucleotide by cysteine in the first position of triplet 148, resulting in the change of glutamine amino acid glutamine.
This mutation is called E148Q and was detected in a single allele, so the patient is heterozygous for this mutation.
A second substitution was detected in exon 10, which consisted of replacing the guanine nucleotide by adenine in the third position of the triplet 694, resulting in the change of amino acid metabolite methion.
This mutation is named M694I and was also detected in a single allele, so the patient is also heterozygous for this mutation.
Both mutations are described in FMF.
A study of exon 3 of the serum protein of the amyloid SAA-1, which showed an alpha/beta genotype, considered low risk for the development of amyloidosis, was also performed.
Treatment was initiated with colchicine at a dose of 1 mg/day, with good subsequent evolution and paulatin disappearance of the seizures.
