Investigation of the relationship between disease severity and development of amyloidosis and genetic mutation in FMF disease.
Ir J Med Sci
; 192(3): 1497-1503, 2023 Jun.
Article
em En
| MEDLINE
| ID: mdl-35972675
ABSTRACT
BACKGROUND:
Familial Mediterranean fever (FMF) is an autosomal recessive genetic disease. Amyloidosis is the most important complication of FMF that determines the prognosis of the disease.AIMS:
In our study, we have investigated the relationship between the genetic mutations with the disease severity and the frequency of development of amyloidosis inpatients with FMF.METHODS:
A total of 148 patients with FMF were included this study. The relationship between disease activity score, clinical findings, response to treatment, and presence of amyloid and genetic mutations were evaluated.RESULTS:
One hundred forty-eight patients (80 women (54%), 68 men (46%)) were enrolled over 18 years of age. The mean age of the patients was 30.98 ± 11.18 (18-67) years. In our study, the most frequently seen mutations are M694V, M680I, R202Q, and E148Q, respectively. The most common genotype is M694V/M694V mutation and this mutation has been found in 37 patients (25%). In 25 patients, M694V heterozygous have been found (16.8%). The third frequent mutationis M694V/M680I/R202Q has been found in13 patients (8.7%). In 23 patients, amyloidosis has been developed. Ten patients with amyloidosis have M694V homozygous mutations (27%) and 5 patients with amyloidosis M694V heterozygous (20%) mutations. The both of the two patients who carry the homozygous E148Q mutations have developed amyloidosis.CONCLUSIONS:
In our study, the distribution of the frequency of mutations is consistent with other similar studies performed in Turkey. We found that patients with M694V mutation had a significantly higher rate of exacerbation, higher drug doses for treatment, and a close relationship with amyloidosis, as compared to patients with other mutations.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Febre Familiar do Mediterrâneo
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Amiloidose
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article