Digest

This podcast episode features Dr. Linda Bluestine, an expert on hypermobility spectrum disorder (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS), addressing listener questions. The discussion covers diagnostic challenges with the Beighton score versus the five-point questionnaire, explaining the 2017 hEDS diagnostic criteria and the need for a revised framework. Finding appropriate healthcare providers experienced in hypermobility, chronic pain, or autonomic dysfunction is emphasized, along with strategies for assessing provider knowledge of dysautonomia and POTS. The episode debunks the link between MTHFR gene mutations and hEDS, explores the potential relationship between hEDS and conditions like celiac disease and lipoedema, and discusses medication choices for hEDS/HSD symptoms, including LDN, ketorolac, and cromolyn sodium. Specific cases are discussed, such as a young patient with new-onset supraventricular tachycardia (SVT) and a mother with EDS, highlighting the importance of cardiologist referral and considering the increased risk of POTS in patients with EDS.

Outlines

00:00:00

Introduction and Listener Questions on hEDS and HSD

The episode introduces Dr. Linda Bluestine, an expert on hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome, who will answer listener questions regarding diagnosis and treatment.

00:00:29

Diagnosing hEDS: Beighton Score vs. Five-Point Questionnaire

Discussion on the limitations of the Beighton score for diagnosing hEDS and the advantages of the five-point questionnaire, particularly in adults. Different types of joint hypermobility are explained.

00:04:53

2017 hEDS Diagnostic Criteria and Challenges

Details the 2017 international diagnostic criteria for hEDS, highlighting the subjective nature of some criteria and the need for a revised framework (Road to 2026). Red flags indicating the need for genetic testing are discussed.

00:10:32

Finding the Right Healthcare Provider for hEDS/HSD

Advice on finding healthcare providers experienced in hypermobility, chronic pain, or autonomic dysfunction. Importance of patient preparation and the use of telemedicine are discussed.

00:16:34

hEDS, SVT, and POTS

A listener question about a young patient with new-onset supraventricular tachycardia (SVT) and a mother with EDS. The discussion differentiates SVT from sinus tachycardia and highlights the importance of cardiologist referral, while also considering the increased risk of POTS in patients with EDS.

00:22:58

Assessing Provider Knowledge of Dysautonomia

Strategies for respectfully assessing a doctor's knowledge of dysautonomia and POTS, emphasizing a collaborative approach.

00:24:25

MTHFR Gene and Hypermobility

Discussion on the lack of scientific evidence linking MTHFR gene mutations to hEDS, despite a high prevalence of MTHFR polymorphisms in patients with hypermobility. A balanced approach to addressing patient concerns is recommended.

00:31:20

Celiac Disease and EDS

Explores the potential relationship between EDS and celiac disease, focusing on overlapping symptoms and the possibility of immune system dysregulation. The value of elimination diets is discussed.

00:38:13

Lipoedema and its Relationship to Hypermobility

Discussion on lipoedema, its symptoms, and its overlap with hypermobility disorders. The role of primary care providers in recognizing and managing lipoedema is highlighted.

00:42:52

Medication Choices for hEDS/HSD Symptoms

Dr. Bluestine discusses her approach to medication selection for hEDS/HSD, focusing on personalized care and the use of LDN, ketorolac, and cromolyn sodium. The importance of low-dose starting points and careful titration is emphasized.

Keywords

Q&A

• What are the limitations of the Beighton score in diagnosing hEDS?

  The Beighton score is age and gender-dependent, assesses only a limited number of joints, is a snapshot in time, and is biased towards upper extremities. It's not sufficient alone to diagnose hEDS.

• How can I find a healthcare provider knowledgeable about hEDS and related conditions?

  Seek providers with experience in hypermobility, chronic pain, or autonomic dysfunction. Utilize online support groups for recommendations. Prioritize compassionate and curious clinicians over specific specialties.

• My patient has new-onset SVT; her mother has EDS. What should I do?

  Refer to a cardiologist for SVT evaluation. Given the mother's EDS history, also consider evaluating for POTS, potentially involving a neurologist experienced in dysautonomia. Building a multidisciplinary care team is often necessary.

• How do I address patient concerns about MTHFR gene mutations and their link to hEDS?

  Validate their efforts in seeking answers. Explain that while MTHFR variants are common and affect folate metabolism, there's no proven link to hEDS. Focus on evaluating and treating the patient's symptoms.

• Is there a relationship between EDS and celiac disease?

  While no direct link is officially recognized, many with EDS report celiac or gluten sensitivity. Overlapping gut symptoms and potential immune dysregulation may be involved. Consider testing for celiac and exploring gluten-free diets.

• How does lipoedema relate to hypermobility and EDS?

  Lipoedema isn't an EDS subtype, but many with lipoedema also have joint hypermobility or hEDS. Shared features include joint instability, fatigue, pain, and easy bruising. PCPs should screen for comorbidities and refer appropriately.

Show Notes