Specialist Consultation for Ehlers-Danlos Syndrome and Functional Neurological Disorder
For Ehlers-Danlos syndrome, you should first consult a medical geneticist for definitive diagnosis and classification, followed by a neurologist for functional neurological disorder evaluation, as these conditions frequently co-occur and require coordinated multidisciplinary management. 1, 2
Primary Referral for Ehlers-Danlos Syndrome
Start with a medical geneticist as your primary specialist. The American College of Medical Genetics recommends referring all suspected EDS patients to a medical geneticist, as they possess the specialized expertise in inherited connective tissue disorders necessary for accurate diagnosis and classification 1. This is critical because:
- Genetic counseling must occur before any mutation screening due to complex financial, insurance, familial, and social implications 1
- For hypermobile EDS (hEDS), which represents 80-90% of cases, diagnosis remains primarily clinical as no specific genetic markers have been identified 1
- The geneticist will coordinate appropriate genetic testing and determine which EDS subtype you have, which directly impacts subsequent specialist referrals 1
Urgent Subspecialty Referrals Based on EDS Type
If vascular EDS is suspected, this becomes a medical emergency requiring immediate referral. The American Heart Association recommends immediately referring patients with suspected vascular EDS to vascular surgery for surveillance imaging protocols 1. The American College of Cardiology also recommends urgent cardiology consultation due to high risk of arterial rupture and aneurysms, with median survival of only 48 years 1. COL3A1 gene mutation testing should be performed urgently when vascular EDS is suspected 1.
Neurologist Consultation for Functional Neurological Disorder
A neurologist should evaluate your functional neurological disorder, ideally one familiar with EDS. This is particularly important because:
- 92% of hEDS/HSD patients present at least one functional neurological sign (FNS), with 58% presenting between 2-4 signs and 12% presenting 5 or more signs 2
- Functional neurological disorder can severely interfere with rehabilitation efforts in hEDS/HSD, and FND-targeted physical therapy should be combined with EDS/HSD-specific approaches 2
- Neurological manifestations in EDS are unexpectedly common and potentially disabling, including chronic pain, fatigue, headache, muscle weakness, and paresthesias 3, 4
The neurologist should assess for specific functional neurological signs including motor signs (such as give-way weakness, tremor, gait abnormalities) and sensory signs (non-anatomical sensory loss, sensory inconsistencies) 2.
Essential Multidisciplinary Team Members
Beyond the geneticist and neurologist, you will need:
- Pain management specialist - The American Academy of Pain Medicine recommends this for chronic pain management, specifically avoiding opioids which can worsen GI symptoms 1
- Gastroenterologist - The American Gastroenterological Association recommends this consultation as GI manifestations affect up to 98% of hEDS patients 1
- Dietitian/nutritionist - The National Institute of Diabetes and Digestive and Kidney Diseases recommends this for management of GI symptoms and nutritional optimization 1
- Physical therapist - Physical therapy is the only treatment proven efficacious in reducing joint instability, generalized pain, and secondary osteoarthritis in hEDS 5
Screening Before Specialist Referral
Before seeing specialists, document the following:
- Beighton scale score for joint hypermobility assessment, as recommended by the American Academy of Pediatrics 1
- Postural vital signs with active stand test to assess for postural orthostatic tachycardia syndrome (POTS), per the American Autonomic Society 1
- Three-generation family history focusing on sudden deaths, arterial ruptures, organ perforations, and autosomal dominant inheritance patterns, as recommended by the National Society of Genetic Counselors 1
Critical Pitfalls to Avoid
Do not delay referral to medical genetics if vascular EDS is suspected - this is a medical emergency with high mortality risk 1. The American Medical Association emphasizes this is the most dangerous pitfall.
Do not request routine genetic testing for hEDS - no causative genes have been identified, and diagnosis remains clinical 1. The American College of Medical Genetics specifically recommends avoiding this unnecessary testing.
Do not overlook the co-existence of FND with EDS - better clinical detection and formal diagnosis of FND is essential to offer adequate care in co-morbid situations 2. The presence of functional neurological signs deserves specific FND-targeted interventions combined with EDS-specific approaches 2.
Recognize that epilepsy can be associated with EDS, particularly focal seizures with temporo-parieto-occipital auras, and is usually responsive to common antiepileptic therapy 6. If seizures are present, this strengthens the need for neurological consultation.