Related Experiment Video

Updated: Jan 4, 2026

Diagnosing Pulmonary Tuberculosis with the Xpert MTB/RIF Test
08:10

Diagnosing Pulmonary Tuberculosis with the Xpert MTB/RIF Test

Published on: April 9, 2012

81.7K

Familial Mediterranean fever: misdiagnosis and diagnostic delay in Turkey

Mustafa Erdogan1, Serdal Ugurlu1, Huri Ozdogan1

  • 1Division of Rheumatology, Department of Medicine, Cerrahpaşa Medical Faculty, University of Istanbul-Cerrahpasa, Istanbul, Turkey.

Clinical and Experimental Rheumatology
|November 8, 2019
PubMed
Abstract

Insights

Familial Mediterranean Fever (FMF) diagnosis is often delayed and misdiagnosed, even in high-prevalence areas. Atypical presentations, particularly early-onset joint attacks, contribute significantly to diagnostic delays.

Area of Science:

  • Rheumatology
  • Genetics
  • Internal Medicine

Background:

  • Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder with significant prevalence in Mediterranean and Middle Eastern populations.
  • Delayed diagnosis of FMF can lead to chronic morbidity and increased healthcare costs.

Purpose of the Study:

  • To investigate the patterns of presentation, frequency of misdiagnosis, and duration of diagnostic delay in a large cohort of Turkish FMF patients.
  • To identify underlying causes contributing to misdiagnosis and delayed diagnosis of FMF.

Main Methods:

  • A cohort of 197 consecutive FMF patients from a single tertiary center in Turkey was studied.
  • Standardized questionnaires collected data on age at first symptom, diagnosis date, and prior misdiagnoses and treatments.
  • Patient demographics, including age and genetic carrier status (M694V), were analyzed.

Main Results:

  • A high rate of misdiagnosis (84%) and prior surgical operations (28%) was observed before FMF diagnosis.
  • Common misdiagnoses included appendicitis (55%) and acute rheumatic fever (ARF) (45%).
  • The median diagnostic delay was 11 years, with early-onset joint attacks (median age 3) being a key factor, especially in ARF misdiagnosis.

Conclusions:

  • Despite being registered after 2000, FMF patients in Turkey still experience high misdiagnosis rates and prolonged diagnostic delays.
  • Atypical presentations, particularly isolated joint attacks in early-onset FMF, are strongly associated with diagnostic errors and delays.

More Related Videos

Synthesis, Characterization, and Application of Superparamagnetic Iron Oxide Nanoprobes for Extrapulmonary Tuberculosis Detection09:54

Synthesis, Characterization, and Application of Superparamagnetic Iron Oxide Nanoprobes for Extrapulmonary Tuberculosis Detection

Published on: February 16, 2020

6.1K

Related Concept Videos

Myocarditis II: Clinical Features and Diagnostic Tests01:27

Myocarditis II: Clinical Features and Diagnostic Tests

Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
218
Pulmonary Tuberculosis IV01:26

Pulmonary Tuberculosis IV

Tuberculosis, more commonly referred to as TB, is an infectious disease stemming from Mycobacterium tuberculosis. While it primarily impacts the lungs, TB can also affect other body areas. Given its severity and global impact, timely and accurate diagnosis is crucial for controlling its spread and improving patient outcomes.
Several diagnostic approaches are used to detect TB. The conventional method is the Tuberculin Skin Test (TST), also known as the Mantoux test. However, this method has...
452
Pericarditis II: Clinical Features and Diagnostic Tests01:19

Pericarditis II: Clinical Features and Diagnostic Tests

Pericarditis is distinguished by inflammation of the pericardium, the fibrous sac that encases the heart. It can be acute, lasting less than six weeks, or chronic, persisting for over three months. Understanding its clinical manifestations and diagnostic findings is crucial for timely and effective management.Clinical ManifestationsWhile pericarditis can be asymptomatic, it usually presents with characteristic symptoms such as:Chest Pain: The most characteristic symptom of pericarditis is chest...
249
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
422
Myocarditis III: Medical Management01:14

Myocarditis III: Medical Management

Myocarditis: Comprehensive Medical ManagementMyocarditis, the heart muscle inflammation, requires a comprehensive medical management strategy that addresses the underlying cause, provides supportive care, manages symptoms, and reduces cardiac workload.Infections and Autoimmune CausesAdminister appropriate antimicrobial therapy when an infectious agent causes myocarditis. For instance, penicillin treats infections caused by Group A Streptococcus. In cases where autoimmune processes are...
144
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
1.8K