From the Guidelines
A rheumatologist or geneticist with experience in connective tissue disorders is typically the best specialist to investigate hypermobile Ehlers-Danlos Syndrome (hEDS). These specialists have the expertise to evaluate the complex symptoms of hEDS, which include joint hypermobility, skin hyperextensibility, and chronic pain, as well as gastrointestinal associations such as visceral hypersensitivity and dysmotility 1. The diagnostic process usually involves a thorough physical examination, family history review, and assessment using specific clinical criteria, as there is currently no genetic test for hEDS. A rheumatologist can also help rule out other conditions with similar symptoms and coordinate care with other specialists like physical therapists, pain management specialists, cardiologists, and gastroenterologists, as hEDS often affects multiple body systems 1. Some patients may initially be referred by their primary care physician to a geneticist for evaluation, particularly if there are concerns about other types of EDS or related connective tissue disorders. Finding a specialist with specific knowledge of hEDS is important, as not all rheumatologists or geneticists have extensive experience with this condition.
Key considerations in the diagnosis and management of hEDS include:
- Evaluating for associated conditions such as postural tachycardia syndrome (PoTS) and autonomic dysregulation 1
- Assessing for gastrointestinal symptoms such as acid reflux, abdominal pain, and constipation 1
- Coordinating care with multiple specialists to address the complex needs of patients with hEDS
- Considering genetic evaluation if there is a suspicion of an underlying systemic arteriopathy or connective tissue disorder 1
Overall, a multidisciplinary approach to the diagnosis and management of hEDS is essential to improve outcomes and quality of life for patients with this condition.
From the Research
Diagnosis and Referral of hEDS
- The diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS) relies solely on clinical examination, as its molecular aetiology remains unknown 2.
- Referrals to medical geneticists for evaluation of hEDS are commonplace, despite the lack of identifiable molecular etiology for the condition 3.
- There are no nationally recognized referral guidelines for hEDS, resulting in diverse and unstandardized policies across healthcare institutions 3.
Specialist Involvement in hEDS Investigation
- Genetic counselors play a significant role in managing referrals for hypermobility and hEDS, and are concerned about the potential impact of policy variability on the quality of care for patients with hEDS 3.
- Medical geneticists are involved in the evaluation of hEDS, but the lack of standardization in referral policies may result in inconsistent access to care for patients 3.
- Other specialists, such as osteopathic physicians, may also be involved in the diagnosis and management of hEDS, using clinical diagnosis guidelines and criteria to differentiate hEDS from other hypermobile joint conditions 4.
Challenges in hEDS Investigation
- The unknown molecular basis of hEDS poses a significant challenge in diagnosing and managing the condition 5, 6.
- The lack of standardization in referral policies and diagnostic criteria may lead to inconsistent access to care and barriers to diagnosis and treatment 3, 2.
- Further research is needed to elucidate the molecular genetic basis of hEDS and to develop effective treatment options 2, 6.