Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome
The extent of comorbidity and misdiagnosis had been unclear for patients with hypermobile Ehlers-Danlos Syndrome (hEDS), a hereditary connective tissue disorder. The objectives of the study were to (1) describe the prevalence of alternative diagnoses that these patients have received, (2) assess the...
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| Published in | Genetics in Medicine Open Vol. 1; no. 1; p. 100812 |
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| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
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United States
Elsevier Inc
01.01.2023
Elsevier |
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| Abstract | The extent of comorbidity and misdiagnosis had been unclear for patients with hypermobile Ehlers-Danlos Syndrome (hEDS), a hereditary connective tissue disorder. The objectives of the study were to (1) describe the prevalence of alternative diagnoses that these patients have received, (2) assess their endorsement and rejection of these diagnoses, and (3) characterize their experience on their “diagnostic odysseys.”
We circulated a survey through the Ehlers-Danlos Society’s Global Registry, asking participants which diagnoses they had received and whether they believed they were still accurate. They were also asked questions about their experience while seeking a diagnosis. Descriptive statistics and consensus clustering were then conducted.
A total of 505 unique individuals with clinically confirmed hEDS completed the survey. The average number of alternative diagnoses was 10.45. Anxiety, depression, and migraines were the most common. However, the diagnoses with the greatest endorsement were postural orthostatic tachycardia syndrome, cervical instability, and mast cell activation syndrome. The diagnoses with the greatest rejection were functional neurologic disorders, multiple sclerosis, and fibromyalgia. The average time to diagnosis was 10.39 years.
An appropriate hEDS diagnosis is complex and its presentation multisystemic. Health care providers should be aware of the specific phenotypes to improve the time to diagnosis and care. |
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| AbstractList | The extent of comorbidity and misdiagnosis had been unclear for patients with hypermobile Ehlers-Danlos Syndrome (hEDS), a hereditary connective tissue disorder. The objectives of the study were to (1) describe the prevalence of alternative diagnoses that these patients have received, (2) assess their endorsement and rejection of these diagnoses, and (3) characterize their experience on their “diagnostic odysseys.”
We circulated a survey through the Ehlers-Danlos Society’s Global Registry, asking participants which diagnoses they had received and whether they believed they were still accurate. They were also asked questions about their experience while seeking a diagnosis. Descriptive statistics and consensus clustering were then conducted.
A total of 505 unique individuals with clinically confirmed hEDS completed the survey. The average number of alternative diagnoses was 10.45. Anxiety, depression, and migraines were the most common. However, the diagnoses with the greatest endorsement were postural orthostatic tachycardia syndrome, cervical instability, and mast cell activation syndrome. The diagnoses with the greatest rejection were functional neurologic disorders, multiple sclerosis, and fibromyalgia. The average time to diagnosis was 10.39 years.
An appropriate hEDS diagnosis is complex and its presentation multisystemic. Health care providers should be aware of the specific phenotypes to improve the time to diagnosis and care. Purpose: The extent of comorbidity and misdiagnosis had been unclear for patients with hypermobile Ehlers-Danlos Syndrome (hEDS), a hereditary connective tissue disorder. The objectives of the study were to (1) describe the prevalence of alternative diagnoses that these patients have received, (2) assess their endorsement and rejection of these diagnoses, and (3) characterize their experience on their “diagnostic odysseys.” Methods: We circulated a survey through the Ehlers-Danlos Society’s Global Registry, asking participants which diagnoses they had received and whether they believed they were still accurate. They were also asked questions about their experience while seeking a diagnosis. Descriptive statistics and consensus clustering were then conducted. Results: A total of 505 unique individuals with clinically confirmed hEDS completed the survey. The average number of alternative diagnoses was 10.45. Anxiety, depression, and migraines were the most common. However, the diagnoses with the greatest endorsement were postural orthostatic tachycardia syndrome, cervical instability, and mast cell activation syndrome. The diagnoses with the greatest rejection were functional neurologic disorders, multiple sclerosis, and fibromyalgia. The average time to diagnosis was 10.39 years. Conclusion: An appropriate hEDS diagnosis is complex and its presentation multisystemic. Health care providers should be aware of the specific phenotypes to improve the time to diagnosis and care. The extent of comorbidity and misdiagnosis had been unclear for patients with hypermobile Ehlers-Danlos Syndrome (hEDS), a hereditary connective tissue disorder. The objectives of the study were to (1) describe the prevalence of alternative diagnoses that these patients have received, (2) assess their endorsement and rejection of these diagnoses, and (3) characterize their experience on their "diagnostic odysseys."PurposeThe extent of comorbidity and misdiagnosis had been unclear for patients with hypermobile Ehlers-Danlos Syndrome (hEDS), a hereditary connective tissue disorder. The objectives of the study were to (1) describe the prevalence of alternative diagnoses that these patients have received, (2) assess their endorsement and rejection of these diagnoses, and (3) characterize their experience on their "diagnostic odysseys."We circulated a survey through the Ehlers-Danlos Society's Global Registry, asking participants which diagnoses they had received and whether they believed they were still accurate. They were also asked questions about their experience while seeking a diagnosis. Descriptive statistics and consensus clustering were then conducted.MethodsWe circulated a survey through the Ehlers-Danlos Society's Global Registry, asking participants which diagnoses they had received and whether they believed they were still accurate. They were also asked questions about their experience while seeking a diagnosis. Descriptive statistics and consensus clustering were then conducted.A total of 505 unique individuals with clinically confirmed hEDS completed the survey. The average number of alternative diagnoses was 10.45. Anxiety, depression, and migraines were the most common. However, the diagnoses with the greatest endorsement were postural orthostatic tachycardia syndrome, cervical instability, and mast cell activation syndrome. The diagnoses with the greatest rejection were functional neurologic disorders, multiple sclerosis, and fibromyalgia. The average time to diagnosis was 10.39 years.ResultsA total of 505 unique individuals with clinically confirmed hEDS completed the survey. The average number of alternative diagnoses was 10.45. Anxiety, depression, and migraines were the most common. However, the diagnoses with the greatest endorsement were postural orthostatic tachycardia syndrome, cervical instability, and mast cell activation syndrome. The diagnoses with the greatest rejection were functional neurologic disorders, multiple sclerosis, and fibromyalgia. The average time to diagnosis was 10.39 years.An appropriate hEDS diagnosis is complex and its presentation multisystemic. Health care providers should be aware of the specific phenotypes to improve the time to diagnosis and care.ConclusionAn appropriate hEDS diagnosis is complex and its presentation multisystemic. Health care providers should be aware of the specific phenotypes to improve the time to diagnosis and care. |
| ArticleNumber | 100812 |
| Author | Francomano, Clair A. Cao, Sha Halverson, Colin M.E. Perkins, Susan M. |
| Author_xml | – sequence: 1 givenname: Colin M.E. orcidid: 0000-0002-4205-7860 surname: Halverson fullname: Halverson, Colin M.E. email: chalver@iu.edu organization: Center for Bioethics, Indiana University School of Medicine, Indianapolis, IN – sequence: 2 givenname: Sha surname: Cao fullname: Cao, Sha organization: Department of Biostatistics and Health Data Science, Indiana University School of Medicine, Indianapolis, IN – sequence: 3 givenname: Susan M. surname: Perkins fullname: Perkins, Susan M. organization: Department of Biostatistics and Health Data Science, Indiana University School of Medicine, Indianapolis, IN – sequence: 4 givenname: Clair A. surname: Francomano fullname: Francomano, Clair A. organization: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN |
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| Keywords | Diagnostic odyssey Misdiagnosis Hypermobile Ehlers-Danlos Syndrome Comorbidity |
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| Title | Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome |
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