Abstract | March 24, 2024

Sensitivity of History-Taking in Diagnosing Ehlers-Danlos Syndrome

Nashwah Qamar, B.S., Research Student, Cardiology, The Heartbeat Clinic, McKinney, TX

Amna Butt, MBBS, MPH, Research Coordinator, Cardiology, The Heartbeat Clinic, McKinney, TX; Kazma Kulsoom, MPH, Biostatistician, Cardiology, The Heartbeat Clinic, McKinney, TX; Ishaan Mehta, Research Student, Cardiology, The Heartbeat Clinic, McKinney, TX; and Amer Suleman, MD, Physician, Cardiology, The Heartbeat Clinic, McKinney, TX

Learning Objectives

  1. Assess the diagnostic sensitivity and specificity of history-taking for identifying Ehlers-Danlos syndrome (EDS) by critically analyzing study results, understanding sensitivity and specificity concepts, and distinguishing between true positive, false positive, true negative, and false negative outcomes
  2. Apply the Beighton Score as a diagnostic tool for EDS: Demonstrate the practical application of the Beighton Score in clinical settings, including the interpretation of scores exceeding 4 as indicative of generalized joint hypermobility and scores below 4 ruling out EDS
  3. Analyze the positive predictive value (PPV) of self-diagnosis in the context of EDS, emphasizing its role in identifying individuals at risk and understanding its implications for clinical practice, as well as evaluate the strengths and limitations of history-taking in EDS diagnosis, emphasizing the importance of further assessments to enhance diagnostic accuracy

BACKGROUND: Ehlers-Danlos syndrome (EDS) is a genetic disorder affecting connective tissue in the joints and skin, resulting in increased laxity. While genetic testing is the primary diagnostic method, the Beighton Score, a 9-point scale measuring joint flexibility, is essential for identifying potential EDS cases. A Beighton score exceeding 4 suggests generalized joint hypermobility, while a score below 4 rules it out. The aim of our study is to assess the diagnostic sensitivity of history-taking in identifying EDS through the use of the Beighton Score.

METHODS: A retrospective study design was employed. A random dataset was obtained comprising 273 patients from The Heartbeat Clinic. Patients’ responses regarding joint hypermobility were categorized as “yes” or “no” based on their medical history and respective Beighton scores were documented based on clinical examination findings. Data organization and result generation were performed using SPSS Statistics 29.

RESULTS: Among the 273 patients in our study, 9 (7%) were male and 254 (93%) were female. 38 (13.9%) had a Beighton score <4, while 235 (86.1%) had a score >4. Regarding self-diagnosis, 99 (36.3%) patients answered “yes”, while 174 (63.7%) patients answered “no”. Notably, 7 (18.4%) patients who responded “yes” to self-diagnosis had a Beighton score <4, a false positive result, whereas 31 (81.6%) patients who answered “no” also had a score <4, a true negative result. Furthermore, 92 (39.1%) patients who responded “yes” to history taking had a Beighton score >4, a true positive result, whereas 143 (60.9%) patients who answered “no” also had a score >4, a false negative result.

CONCLUSION: Our study revealed that history-taking exhibited a sensitivity of 39.1%, whereas its specificity was higher at 81.6%. The higher incidence of false negatives, contrary to true positives, contributed to the reduced sensitivity. Nonetheless, the positive predictive value (PPV) of self-diagnosis was 92.9%, signifying that individuals who self-reported hypermobility indeed had a Beighton score >4 during examination, thus elevating their EDS risk. Although history-taking’s sensitivity for EDS diagnosis is limited, its strong PPV underscores its significance and need for further assessments to classify EDS.

References and Resources

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