Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study
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Characteristics of patients with familial Mediterranean fever in Denmark : a retrospective nationwide register-based cohort study. / Mortensen, S. B.; Hansen, A. E.; Lundgren, J.; Barfod, T. S.; Ambye, L.; Dunø, M.; Schade Larsen, C.; Andersen, D. C.; Jakobsen, M. A.; Johansen, I. S.
I: Scandinavian Journal of Rheumatology, Bind 49, Nr. 6, 2020, s. 1-9.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Characteristics of patients with familial Mediterranean fever in Denmark
T2 - a retrospective nationwide register-based cohort study
AU - Mortensen, S. B.
AU - Hansen, A. E.
AU - Lundgren, J.
AU - Barfod, T. S.
AU - Ambye, L.
AU - Dunø, M.
AU - Schade Larsen, C.
AU - Andersen, D. C.
AU - Jakobsen, M. A.
AU - Johansen, I. S.
PY - 2020
Y1 - 2020
N2 - Objectives: To investigate epidemiology, demography, and genetic and clinical characteristics of patients with familial Mediterranean fever (FMF) in Denmark. Method: In this population-based, cross-sectional cohort study, we identified FMF patients from discharge diagnoses using ICD-10 codes in the Danish National Patient Register, and linked data from the Danish Civil Registration System and laboratory databases for results of MEFV gene variant screening. Results: We identified 495 FMF patients (prevalence 1:11 680) with a median age of 29 years and a female ratio of 51%. The median age at diagnosis of FMF was 13 (IQR 7–22) years, with an estimated median diagnostic delay of 3 (IQR 0.7–6.9) years. The predominant ethnicities were Turkish (41.8%), Lebanese (15.8%), Syrian (6.5%), South-West Asian (7.9%), and South-East Asian (3.0%). The MEFV genotype distribution was 18.7% homozygous, 21.2% compound heterozygous, 32.0% heterozygous, 11.0% with complex alleles or unresolved zygosity, and 17.1% with no detected variants. M694V was the most prevalent variant in the overall cohort (32.5%). Homozygous or compound heterozygous MEFV exon 10 variants were associated with younger age at diagnosis (p < 0.001) and reduced number of hospital contacts before diagnosis (p = 0.008). The Charlson Comorbidity Index was ≥ 2 in 8.1% of patients. The prevalence of amyloidosis was 1.0%. Conclusions: FMF in Denmark is rare and patients are mainly of Eastern Mediterranean ethnicity. Diagnostic delay was long but patients with exon 10 MEFV variants were diagnosed at a younger age. Prolonged diagnostic delay is probably caused by lack of FMF awareness in the Danish healthcare system.
AB - Objectives: To investigate epidemiology, demography, and genetic and clinical characteristics of patients with familial Mediterranean fever (FMF) in Denmark. Method: In this population-based, cross-sectional cohort study, we identified FMF patients from discharge diagnoses using ICD-10 codes in the Danish National Patient Register, and linked data from the Danish Civil Registration System and laboratory databases for results of MEFV gene variant screening. Results: We identified 495 FMF patients (prevalence 1:11 680) with a median age of 29 years and a female ratio of 51%. The median age at diagnosis of FMF was 13 (IQR 7–22) years, with an estimated median diagnostic delay of 3 (IQR 0.7–6.9) years. The predominant ethnicities were Turkish (41.8%), Lebanese (15.8%), Syrian (6.5%), South-West Asian (7.9%), and South-East Asian (3.0%). The MEFV genotype distribution was 18.7% homozygous, 21.2% compound heterozygous, 32.0% heterozygous, 11.0% with complex alleles or unresolved zygosity, and 17.1% with no detected variants. M694V was the most prevalent variant in the overall cohort (32.5%). Homozygous or compound heterozygous MEFV exon 10 variants were associated with younger age at diagnosis (p < 0.001) and reduced number of hospital contacts before diagnosis (p = 0.008). The Charlson Comorbidity Index was ≥ 2 in 8.1% of patients. The prevalence of amyloidosis was 1.0%. Conclusions: FMF in Denmark is rare and patients are mainly of Eastern Mediterranean ethnicity. Diagnostic delay was long but patients with exon 10 MEFV variants were diagnosed at a younger age. Prolonged diagnostic delay is probably caused by lack of FMF awareness in the Danish healthcare system.
U2 - 10.1080/03009742.2020.1756400
DO - 10.1080/03009742.2020.1756400
M3 - Journal article
C2 - 32608308
AN - SCOPUS:85087790512
VL - 49
SP - 1
EP - 9
JO - Scandinavian Journal of Rheumatology
JF - Scandinavian Journal of Rheumatology
SN - 0300-9742
IS - 6
ER -
ID: 258323350