Which specialists should a patient with hypermobile Ehlers-Danlos syndrome (hEDS) be referred to?

Specialist Referral for Hypermobile Ehlers-Danlos Syndrome (hEDS)

Patients with hEDS require coordinated multidisciplinary care rather than a single specialist referral, with the primary care provider serving as the central coordinator and referring to specific specialists based on the patient's predominant symptoms and functional impairment. 1

Core Referral Framework

Primary Care Provider as Care Coordinator

• The primary care physician should maintain the central role in overseeing and coordinating the multidisciplinary team that most hEDS patients require, given their ongoing relationship and ability to manage the multisystemic nature of the condition 1
• Primary care providers should be familiar with hEDS evaluation, management, and indications for specialist referral given the high prevalence of this condition 2

Physical and Occupational Therapy (First-Line Referral)

• Refer all hEDS patients to physical therapy as it plays a central role in treatment, with therapeutic exercise and motor function training showing efficacy in managing symptoms 3
• Physical therapy focuses on preventing joint injury, improving stability, and managing chronic pain 3, 1
• Occupational therapy helps with adaptive equipment needs and functional training 3

Gastroenterology Referrals

Refer to gastroenterology when:

• Patients present with chronic gastrointestinal symptoms consistent with disorders of gut-brain interaction (DGBI), which occur in over 60% of hEDS patients 4
• Upper GI symptoms persist, warranting timely diagnostic testing of gastric motor functions after exclusion of structural disease 4
• Lower GI symptoms include incomplete evacuation, as pelvic floor dysfunction (especially rectal hyposensitivity) has high prevalence in this population 4
• Symptoms suggest possible mast cell activation syndrome (MCAS) with episodic generalized symptoms beyond isolated GI complaints 4

Allergy/Immunology Referrals

Refer to an allergy specialist or mast cell disease research center when:

• Clinical and laboratory findings support a diagnosis of MCAS (baseline tryptase and levels collected 1-4 hours following symptom flares) 4
• Patients present with episodic symptoms suggesting a generalized mast cell disorder beyond isolated GI manifestations 4

Cardiology/Autonomic Dysfunction Referrals

Refer for formal autonomic testing when:

• Patients present with clinical manifestations of orthostatic intolerance—palpitations, dizziness, presyncope, syncope, or lightheadedness 5
• Symptoms improve when sitting or lying down 5
• Symptoms worsen with food ingestion, physical exertion, or heat exposure 5
• Palpitations or tachycardia occur upon standing 5
• Refractory GI symptoms occur alongside orthostatic intolerance after medication side-effects have been excluded and lifestyle modifications attempted 5
• Note: Universal testing for POTS in all hEDS patients is NOT supported by current evidence 5

Cardiovascular Medicine Referrals

Refer to cardiovascular specialists when:

• Baseline echocardiography reveals mitral valve prolapse (present in 7.5% of hEDS patients) or thoracic aortic dilatation (present in 20.7% of hEDS patients) 6
• Aortic dilatation is detected, requiring ongoing surveillance to monitor for progressive dilatation 6
• Patients present with cervical artery dissection or spontaneous coronary artery dissection, as hEDS/HSD should be considered on the differential 6

Genetics/Connective Tissue Disorder Specialist Referrals

Refer to a connective tissue disorder specialist when:

• Another underlying monogenic connective tissue disease is suspected beyond hEDS 2
• Genetic testing identifies an alternative or additional diagnosis (occurs in 26.4% of patients meeting hEDS criteria), requiring distinct management strategies 7
• Important caveat: Genetic testing is NOT recommended for patients with HSD/hEDS unless another underlying connective tissue disease is suspected 2
• Genetic counselors can provide education and address psychosocial matters, though they are a scarce resource and multidisciplinary management remains essential 8

Psychology/Psychiatry Referrals

Refer for psychological support when:

• Patients demonstrate anxiety disorders, which are commonly associated with hEDS 1
• Brain-gut behavioral therapies are needed, as studies show increased rates of anxiety and psychological distress in patients with hypermobility 4
• Self-management support is required as part of comprehensive care 1

Dietitian/Nutrition Referrals

Refer to a dietitian when:

• Patients present with restrictive eating patterns or Avoidant Restrictive Food Intake Disorder (ARFID), which shows high scores in the "low food intake" dietary pattern group 9
• Patients require nutrition support (24% of the low food intake group) 9
• Patients have highly processed food intake patterns associated with higher BMI and dyspepsia 9
• Nutritional inadequacies are present, particularly low calorie, Vitamin B, D, and fiber intake 9

Critical Pitfalls to Avoid

• Do not pursue universal autonomic testing in all hEDS patients; target testing only to those with symptomatic orthostatic intolerance 5
• Do not order genetic testing routinely for hEDS diagnosis, as the molecular etiology remains unknown and diagnosis is primarily clinical 2, 7
• Do not overlook the need for baseline echocardiography to assess for mitral valve prolapse and aortic dilatation, particularly in males where moderate-to-severe dilatation occurs in 50% 6
• Do not delay celiac disease testing in hEDS patients with varied GI symptoms, as it should be considered earlier in the diagnostic evaluation 4
• Do not prescribe or continue opioids for pain-predominant features; management should focus on non-opioid approaches 4