Rare Diseases Symptoms Automatic Extraction

Non-response to colchicine in familial Mediterranean fever should be identified accurately.

[familial mediterranean fever]

Colchicine prophylaxis is the single most important factor in ameliorating familial Mediterranean fever (FMF) for the prevention of both attacks and secondary amyloidosis. The aim of the present study was to evaluate the exact proportion of those patients who do not respond to colchicine and to characterize their demographic, sociodemographic and clinical aspects.One hundred and eight patients with FMF were included in our study. The demographic (age, gender), socioeconomic (education level, employment status, economic income level) and clinical features (age at onset of FMF, age at FMF diagnosis, family history of FMF, mean duration of colchicine use and mean daily colchicine dose) of the patients were evaluated. The patients unresponsive to colchicine therapy, according to their statements, were recorded. Also with another question, patients' routine colchicine-consuming habits were elucidated in a self-answering format. 'Non-responders' were defined as patients who experienced FMF attacks at a frequency greater than once every 3 months despite treatment with 2 mg colchicine daily. Data were analyzed with the chi-square test and Fisher's exact test.There were 50 female and 58 male patients with a mean age of 42.4 ± 11.3 years. The mean age at FMF onset and at FMF diagnosis were 14.3 ± 10.5 and 19.1 ± 12.9 years, respectively. Sixteen percent of the patients defined themselves as 'suffering from attacks in spite of regular colchicine'. Irregular colchicine usage was determined in 11% of the patients who were considered as 'unresponsive to colchicine therapy' according to their statements. In spite of regular colchicine regimen, attacks were present in 5% of the patients in our study. Although there was no difference in demographic and clinical aspects, patients with irregular colchicine usage were found to be from lower socioeconomic backgrounds, had less education and more unemployment (P < 0.001).Regular colchicine usage anamnesis may be misleading in the first evaluation and this risk seems to be higher in patients from lower socioeconomic background. Routine colchicine-consuming habits should be detailed in patients with FMF before claiming its failure.

Diseases presenting "amyloidosis" symptom

  • cadasil
  • fabry disease
  • familial mediterranean fever
  • hereditary cerebral hemorrhage with amyloidosis
  • lymphangioleiomyomatosis
  • phenylketonuria
  • systemic capillary leak syndrome
  • triple a syndrome
  • waldenström macroglobulinemia

This symptom has already been validated