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Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study

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@article{6c5be747d68142038370170a3fb7da64,
title = "Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study",
abstract = "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.",
author = "Mortensen, {S B} and Hansen, {A E} and J Lundgren and Barfod, {T S} and L Ambye and M Dun{\o} and {Schade Larsen}, C and Andersen, {D C} and Jakobsen, {M A} and Johansen, {I S}",
year = "2020",
month = "7",
day = "1",
doi = "10.1080/03009742.2020.1756400",
language = "English",
pages = "1--9",
journal = "Scandinavian Journal of Rheumatology",
issn = "0300-9742",
publisher = "Informa Healthcare",

}

RIS

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 - 2020/7/1

Y1 - 2020/7/1

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

SP - 1

EP - 9

JO - Scandinavian Journal of Rheumatology

JF - Scandinavian Journal of Rheumatology

SN - 0300-9742

ER -

ID: 60230821