Ep. 30 Making Sense of Hypermobile Ehler’s Ehlers-Danlos Syndrome
Episode Summary:
In this episode of 'It's Not In Your Head', Dan and Justine delve into the complex relationship between hypermobile Ehlers-Danlos syndrome (hEDS) and central sensitization, focusing on hEDS as an example of a metabolic driver. Dan shares personal insights from his practice and elaborates on the common patterns and markers identified in patients with hEDS, how it should be diagnosed and treated, and associated challenges. Justine adds her perspective, particularly on the connection between CRPS and hypermobility, and lifestyle interventions. They explore the underlying mechanisms, preventive strategies and management techniques, emphasizing the importance of protein intake, avoiding certain drugs, and considering genetic predispositions. With expert advice and a touch of humor, this episode provides a comprehensive look at managing the very complicated disorder that is hEDS.
Episode Overview
1. Understanding hEDS and Hypermobile Spectrum Disorder (HSD)
Definition: hEDS is a connective tissue disorder characterized by joint hypermobility and a range of systemic symptoms. HSD is a related diagnosis for those who do not meet full hEDS criteria.
Prevalence: hEDS is the most common type in clinical settings and does not yet have a known genetic marker.
Symptoms: Both hEDS and HSD can be highly symptomatic, regardless of strict diagnostic criteria.
2. Pattern Recognition in Complex Patients
Complexity: hEDS patients often have multiple overlapping symptoms and diagnoses, making them some of the most complex patients in the clinic.
Patterns: Seeing many hEDS patients allows clinicians to identify patterns and underlying processes rather than viewing each symptom as a separate disease treated by different specialists
3. Mechanisms: Metabolic Drivers and Collagen Breakdown
Metabolic Disorder Hypothesis: hEDS is proposed as a protein metabolism disorder, involving either insufficient protein synthesis or excessive breakdown (or both).
Matrix Metalloproteinases (MMPs): These enzymes break down collagen and extracellular matrix, leading to stretchy tissues and triggering inflammatory responses.
Research Reference: A 2022 Italian study supports the idea that hEDS and HSD are a single entity driven by poor protein synthesis and increased MMP activity.
4. Clinical Manifestations and Comorbidities
Mechanical Effects: Stretchy ligaments, joints, blood vessels, and gastrointestinal tract lead to pain, instability, reflux, constipation, and postural hypotension (often mislabeled as POTS).
Inflammatory Effects: Collagen breakdown releases DAMPs (danger-associated molecular patterns), triggering chronic low-grade inflammation and activating immune cells (mast cells, T/B cells, microglia).
Central Sensitization: Chronic inflammation and immune activation contribute to central sensitization, resulting in widespread pain, sleep disturbances, cognitive dysfunction, mood issues, autonomic dysfunction, and more.
5. Triggers and Progression
Triggers: Viral infections (like EBV), certain antibiotics (fluoroquinolones), trauma (physical or emotional), and poor nutrition (especially low protein intake) can exacerbate or trigger symptoms.
Progression: The disorder is often progressive, starting with joint issues in childhood and evolving into systemic symptoms over decades.
6. Management Strategies
Protein Intake: Emphasize high protein intake (at least 1.2 g/kg/day, higher if possible) to support tissue repair and reduce symptom progression.
Practical Tips: Use protein powders, prioritize protein in every meal, and be creative with supplementation, especially if gastrointestinal symptoms limit food intake.
Avoid Triggers: Avoid fluoroquinolone antibiotics and excessive zinc supplementation (MMPs are zinc-dependent).
Lifestyle: Maintain adequate hydration, especially for those with POTS-like symptoms.
7. Prevention and Future Directions
Prevention: Early intervention with high protein intake and lifestyle management may help prevent or minimize symptom progression, especially in those with a family history.
Research Gaps: More evidence is needed, but the approach is grounded in mechanistic understanding and clinical experience.
Notable Insights
Holistic Approach: Viewing hEDS as a single, multifaceted disorder rather than a collection of unrelated symptom clusters and diagnosis allows for more effective management.
Patient Agency: Empowering patients to take an active role in their management (e.g., through nutrition and lifestyle) can improve outcomes and quality of life.
Patterns in Practice: Both hosts have observed similar patterns in their respective patient populations, reinforcing the validity of their approach.
Review
This episode provides a comprehensive overview of hEDS and HSD, framing them as metabolic disorders with far-reaching effects on the body that drive sensitization. The hosts emphasize the importance of recognizing patterns, understanding underlying mechanisms, and adopting a proactive, holistic approach to management. They highlight the critical role of protein intake, the dangers of certain medications, and the potential for early intervention to alter the course of the disease.