BackgroundFamilial Mediterranean fever (FMF) is a rare hereditary autoinflammatory disease with disease onset in childhood in most cases. Although autoinflammatory disease awareness is increasing among physicians, delayed diagnosis is still prevalent as a cause of greater morbidity[1].ObjectivesWe aimed to study the characteristics of FMF patients diagnosed between 2000-2010 and 2011-2021 and to see if there was a difference in diagnostic delay.MethodsWe retrospectively evaluated the medical records of the FMF patients followed up in our rheumatology clinic that were diagnosed between 2000-2021 and split them into two groups according to the year they received their diagnosis. There were 1151 patients diagnosed between 2000-2010 (Group 1) and 821 patients diagnosed between 2011-2021 (Group 2). The data studied included gender, age of onset, diagnostic delay, attack characteristics, MEFV mutation, and family history.ResultsThe median current age of patients in Group 1 is 37 years (IQR:30-46) and the median current age of the patients in Group 2 is 36 years (IQR:29-44). The female to male ratio was 1.57 in Group 1 and 1.75 in Group 2, with no significant difference between the groups. Group 2 had later disease onset (p<0.001) and later diagnosis (p<0.001) than Group 1 as shown in the Table 1. The proportion of patients with at least one M694V mutation was higher in Group 2 (p<0.001). The attack durations did not vary between the groups. There was no significant difference in the prevalence of abdominal pain, fever, arthritis, and arthralgia between Group 1 and Group 2. Chest pain (p=0.005), myalgia (p<0.001), and erysipelas-like erythema (p=0.041) were more common in Group 2 than Group 1. Patients with positive family history were more frequent in Group 2 than Group 1 (p=0.046).Table 1.Group 1 (2000-2010, n=1151)Group 2 (2011-2021, n=821)pFemale/Male, n704/447522/2990.275Age at onset, median (IQR) years13 (7-21)18 (12-26)<0.001Delay in diagnosis, median (IQR) years4 (1-11)5,5(2-15)<0.001Attack duration, median (IQR) years3(2-4)3(2-4)0.325Presence of at least one M694V mutation (%)526(46%)390(60%)<0.001Presence of abdominal pain in the initial attack (%)936(81%)669(81%)0.926Presence of fever in the initial attack (%)855(74%)592(72%)0.281Presence of chest pain in the initial attack (%)218(19%)199(24%)0.005Presence of arthritis in the initial attack (%)330(29%)215(26%)0.224Presence of arthralgia in the initial attack (%)213(19%)170(21%)0.223Presence of myalgia in the initial attack (%)45(4%)65(8%)<0.001Presence of erysipelas like erythema in the initial attack (%)31(3%)36(4%)0.041Presence of positive family history (%)652(57%)502(61%)0.046ConclusionThere was some increase in the diagnostic delay in 2011-2021 compared to 2000-2010. This may be partly due to the later onset of symptoms in patients diagnosed in 2011-2021, which could have led the physicians to consider other differential diagnoses. Nevertheless, diagnostic delay in FMF still seems a prevalent problem that should be addressed to prevent excess morbidity and mortality.References[1]Erdogan M, Ugurlu S, Ozdogan H, Seyahi E. Familial Mediterranean fever: misdiagnosis and diagnostic delay in Turkey. Clin Exp Rheumatol. 2019;37 Suppl 121(6):119-124.Disclosure of InterestsNone declared
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.