What is the diagnosis and management approach for Ehler Danlos syndrome?

Ehlers-Danlos Syndrome: Diagnosis and Management

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders characterized primarily by joint hypermobility, skin hyperextensibility, and tissue fragility that requires a multisystem management approach focused on preventing life-threatening complications and improving quality of life.

Diagnosis of Ehlers-Danlos Syndrome

Hypermobile Type (hEDS) - Most Common Type

The diagnosis of hypermobile EDS is based on clinical evaluation and family history, with the following criteria:

Major Diagnostic Criteria 1:

1. Joint hypermobility confirmed by a score of 5 or more on the 9-point Beighton scale:
   • Passive dorsiflexion of each fifth finger >90 degrees (1 point each side)
   • Passive apposition of each thumb to the flexor surface of the forearm (1 point each side)
   • Hyperextension of each elbow >10 degrees (1 point each side)
   • Hyperextension of each knee >10 degrees (1 point each side)
   • Place palms flat on the floor when bending over with knees fully extended (1 point)
2. Soft or velvety skin with normal or slightly increased extensibility
3. Absence of skin or soft tissue fragility (suggestive of other EDS subtypes)

Minor Diagnostic Criteria 1:

• Autosomal dominant family history
• Recurrent joint dislocation or subluxation
• Chronic joint or limb pain
• Easy bruising
• Functional bowel disorders
• Neurally mediated hypotension or postural orthostatic tachycardia
• High, narrow palate
• Dental crowding

Vascular Type (vEDS) - Most Dangerous Type

Vascular EDS is diagnosed through identification of a causal COL3A1 gene variant 1. This is the most severe form due to life-threatening vascular complications including:

• Arterial dissections
• Aneurysms
• Arterial ruptures
• Arteriovenous fistulas
• Aortic dissection (both type A and B) in up to 10% of patients

Classic Type

Classic EDS is characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with atrophic scars, easy bruising, and joint hypermobility 2. Approximately 50% of patients with classic EDS have mutations in the COL5A1 and COL5A2 genes.

Management Approach

Cardiovascular Management

For Hypermobile EDS 1:

1. Normal aortic root size:

   • Echocardiogram every 2-3 years until adult height reached
   • Repeat if cardiovascular symptoms develop or before major physical activity changes

2. Aortic root dilation:

   • Echocardiogram every 6 months if diameter >4.5 cm or rate of increase >0.5 cm/year
   • Annual echocardiogram if diameter <4.5 cm and rate of increase <0.5 cm/year

For Vascular EDS 1:

• Annual surveillance of the vascular tree using DUS, CCT (low radiation), or CMR
• Optimal blood pressure control is essential
• Celiprolol (a beta-blocker with vasodilatory properties) has shown to reduce vascular morbidity
• Acute arterial complications usually require hospitalization and conservative approach
• Interventional procedures should be limited to vital risk situations

Musculoskeletal Management 1, 3:

• Low-resistance exercise to improve joint stability by increasing muscle tone
• Physical therapy for myofascial release to facilitate participation in exercise
• Pain management specialist involvement for chronic pain
• Occupational therapy and bracing (70% of patients report improvement) 3
• Consider myofascial trigger point injections for localized pain 4

Gastrointestinal Management 1:

• Gastritis and reflux: Proton pump inhibitors, H-2 blockers, and sucralfate
• Delayed gastric emptying: Promotility agents
• Irritable bowel: Antispasmodics, antidiarrheals, and laxatives as needed

Bone Health 1:

• Calcium and vitamin D supplementation
• Low-impact weight-bearing exercise
• DXA scan for height loss greater than one inch

Special Considerations

Pregnancy in vEDS 1:

• High risk of arterial and uterine rupture
• Requires specialized multidisciplinary care

Surgical Considerations 5:

• For vascular EDS, surgery carries high mortality
• Simple procedures are preferred over complex techniques
• Surgeon must be informed of the patient's condition
• Postoperative surveillance must be prolonged with close medical follow-up

Common Pitfalls and Caveats

1. Misdiagnosis: EDS can mimic other connective tissue disorders like Marfan syndrome. Ensure proper diagnostic criteria are met 1.

2. Overlooking cardiovascular complications: Regular cardiovascular monitoring is essential, especially in vascular EDS where aortic dissection is a significant risk 1.

3. Inappropriate invasive procedures: In vascular EDS, arteriography is contraindicated and invasive imaging has been associated with fatal complications 5.

4. Inadequate pain management: Pain is a cardinal symptom in EDS but is often undertreated. Consider multiple modalities including physical therapy, myofascial release, and appropriate medications 3, 4.

5. Surgical risks: Tissue fragility can lead to complications during surgery. When surgery is necessary, the surgeon must be informed of the EDS diagnosis 5.