What is hEDs (hypereosinophilic syndrome or eating disorders)?

What is hEDS (Hypermobile Ehlers-Danlos Syndrome)

hEDS is a hereditary connective tissue disorder characterized by joint hypermobility, skin hyperextensibility, and tissue fragility, representing 80-90% of all Ehlers-Danlos syndrome cases. 1

Definition and Pathophysiology

hEDS is defined by abnormal connective tissue with softer, less stiff collagen structure compared to healthy individuals, affecting collagen fibril architecture and triggering fibroblast dysfunction. 2 Unlike other EDS subtypes, hEDS has no identified genetic markers and is diagnosed purely on clinical criteria. 1

Diagnostic Criteria

The diagnosis requires a Beighton score ≥5 for joint hypermobility, assessed by medical geneticists or rheumatologists. 1 The 2017 diagnostic criteria for hEDS should be applied systematically. 1

Key Clinical Features to Assess:

• Joint hypermobility using the Beighton scale (≥5 points required) 1
• Skin hyperextensibility and fragility with abnormal scarring 1
• Family history consistent with autosomal dominant inheritance 1
• Aortic root dilation (present in 25-33% of hypermobile EDS cases) 1

Screening Approach for Gastroenterologists:

Gastroenterology providers seeing patients with disorders of gut-brain interaction should routinely inquire about joint hypermobility and incorporate the Beighton score as a screening tool. 1 If screening is positive, apply the 2017 diagnostic criteria or refer to medical genetics. 1

Common Comorbidities

Gastrointestinal Manifestations

Up to 98% of hEDS patients experience GI symptoms, making this one of the most prevalent complications. 1 Common manifestations include:

• Gastroesophageal reflux disease 2
• Delayed gastric emptying (gastroparesis) 2
• Irritable bowel syndrome 2
• Pelvic floor dysfunction with rectal hyposensitivity 3

Autonomic Dysfunction

Postural orthostatic tachycardia syndrome (POTS) frequently co-occurs with hEDS, requiring neurological and cardiological evaluation. 1

Mast Cell Activation Syndrome (MCAS)

Testing for MCAS should be considered in hEDS patients with disorders of gut-brain interaction who present with episodic symptoms suggesting generalized mast cell disorder. 3 If suspected, obtain serum tryptase levels at baseline and 1-4 hours following symptom flares. 3 Refer to an allergy specialist or mast cell disease research center if MCAS is supported by clinical or laboratory features. 3

Diagnostic Workup for hEDS Patients with GI Symptoms

Follow a positive symptom-based diagnostic strategy with limited noninvasive testing, similar to the general population with disorders of gut-brain interaction. 3

Specific Testing Recommendations:

• Consider celiac disease testing earlier in patients with various GI symptoms, not just diarrhea 3
• Perform anorectal manometry, balloon expulsion test, or defecography for lower GI symptoms like incomplete evacuation, given high prevalence of pelvic floor dysfunction 3
• Measure gastric emptying and/or accommodation in patients with comorbid POTS and chronic upper GI symptoms after excluding structural disease 3

Management Principles

Management should be supportive and symptom-focused, following integrated multidisciplinary care principles that address the multisystemic nature of hEDS. 3

Critical Management Points:

• Avoid or cease opioids in patients with pain-predominant features 3
• Provide psychological support with brain-gut behavioral therapies, as anxiety and psychological distress are increased in hypermobility patients 3
• Treat the most prominent symptoms and abnormal GI function test results 2

Pharmacological Options for GI Symptoms:

• Nausea/vomiting: ondansetron, promethazine, prochlorperazine, aprepitant, metoclopramide, domperidone, erythromycin, prucalopride 3
• Abdominal pain: proton pump inhibitors, H2 receptor antagonists, antispasmodics (hyoscyamine, dicyclomine, peppermint oil), neuromodulators (tricyclic antidepressants, SSRIs, SNRIs, pregabalin, gabapentin) 3
• Constipation: osmotic/stimulant laxatives, lubiprostone, linaclotide, plecanatide, prucalopride, tenapanor 3

Dietary Considerations:

Patients often follow specialized diets (low-histamine for MCAS, gastroparesis diets, elimination diets) which require appropriate nutritional counseling to avoid restrictive eating patterns. 2

Critical Pitfall to Avoid

Do not confuse hEDS with vascular EDS (type IV), which carries significant mortality risk from arterial or organ rupture and requires different management. 1 Vascular EDS requires genetic testing for COL3A1 mutations and surveillance imaging of the aorta and branch vessels. 1

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Note: The abbreviation "hEDS" in your question refers to hypermobile Ehlers-Danlos Syndrome, not hypereosinophilic syndrome (HES) or eating disorders. The evidence provided about hypereosinophilic syndrome 3, 4, 5, 6, 7, 8 is not relevant to this question and has been appropriately excluded from this answer.