What is the recommended management approach for a patient with suspected Marfan or Ehlers-Danlos Syndrome, presenting with gastrointestinal problems, joint hypermobility, easy bruising, disproportionate tall stature, lower back pain, lumbar striae distensae, vision problems, and malabsorption issues, with a normal ECHO (Echocardiogram)?

Management of Suspected Marfan or Ehlers-Danlos Syndrome with Normal Echocardiogram

Given the normal echocardiogram with only trivial mitral valve prolapse and no aortic root dilatation, this patient most likely has hypermobile Ehlers-Danlos Syndrome (hEDS) rather than Marfan syndrome, and should be managed with serial cardiac surveillance every 2-3 years until adult height is reached, comprehensive gastrointestinal symptom management, and musculoskeletal rehabilitation focused on low-resistance exercise and physical therapy. 1

Diagnostic Clarification

The absence of aortic root dilatation and ectopia lentis makes Marfan syndrome unlikely, as these are the two cardinal features required for diagnosis. 1 The clinical presentation—joint hypermobility, easy bruising, GI problems, striae distensae, and tall stature—aligns more closely with hypermobile EDS. 1

Complete the diagnostic evaluation with:

• Formal Beighton hypermobility scoring (≥5/9 points required): assess passive dorsiflexion of fifth fingers >90°, thumb apposition to forearm, elbow hyperextension >10°, knee hyperextension >10°, and palms flat on floor with knees extended 1
• Dilated eye examination to definitively exclude ectopia lentis and rule out Marfan syndrome 1
• Skin assessment for soft/velvety texture with normal or slightly increased extensibility (characteristic of hEDS but not Marfan) 1
• Family history documentation for autosomal dominant inheritance patterns 1

Cardiovascular Management

Serial Echocardiographic Surveillance

With normal aortic root dimensions, repeat echocardiogram every 2-3 years until adult height is reached. 1 After reaching adult height, repeat only if cardiovascular symptoms develop or when a major increase in physical activity is planned. 1

Important caveat: While aortic root dilatation occurs in one-quarter to one-third of individuals with hypermobile EDS, there is no thought to be a risk of dissection without significant aortic root dilatation. 1 However, if any dilatation develops during surveillance:

• Annual echocardiogram if root diameter <4.5 cm in an adult and rate of increase <0.5 cm/year 1
• Every 6 months if diameter >4.5 cm or rate of increase >0.5 cm/year 1

The trivial mitral valve prolapse noted requires no specific intervention at this time but warrants monitoring during serial echocardiograms. 2

Gastrointestinal Management

The GI symptoms and potential malabsorption require targeted symptom-based treatment:

For gastritis and reflux:

• Proton pump inhibitors, H2-receptor antagonists, or sucralfate 1

For delayed gastric emptying/nausea:

• Promotility agents (metoclopramide, domperidone, erythromycin, prucalopride) 1
• Antiemetics (ondansetron, promethazine, prochlorperazine, aprepitant) 1

For abdominal pain:

• Antispasmodics (hyoscyamine, dicyclomine, peppermint oil) 1
• Neuromodulators (tricyclic antidepressants, SSRIs, SNRIs, pregabalin, gabapentin) depending on pain characteristics 1
• Avoid opioids for abdominal pain management 1

For constipation:

• Osmotic/stimulant laxatives, lubiprostone, linaclotide, plecanatide, prucalopride, or tenapanor 1

For diarrhea:

• Loperamide, bile acid sequestrants (cholestyramine, colesevelam), eluxadoline, or alosetron 1

Critical consideration: The low BMI (18.3) and suspected malabsorption warrant nutritional assessment and possible supplementation. 1

Musculoskeletal Management

Low-resistance exercise is the cornerstone to improve joint stability by increasing muscle tone. 1 Physical therapy for myofascial release is often necessary before patients can participate in low-resistance exercise programs. 1

For chronic lower back pain and joint pain:

• Pain management specialist involvement is crucial for patients with chronic pain 1
• Delay orthopedic surgery if possible in favor of physical therapy and bracing, as patients with hEDS show decreased stabilization, pain reduction, and shorter duration of improvement compared to those without EDS 1

Vitamin C supplementation may improve hypermobility as it serves as a cofactor for collagen fibril cross-linking 1

Bone Health

Calcium and vitamin D supplementation should be encouraged given the association with osteoporosis in hEDS. 1 Order DXA scan if height loss exceeds one inch. 1

Ophthalmologic Follow-up

The recent vision changes and updated prescription require dilated eye examination to exclude ectopia lentis, which would shift the diagnosis toward Marfan syndrome. 1 This is a critical diagnostic step that cannot be deferred.

Autonomic Dysfunction Screening

Consider screening for postural orthostatic tachycardia syndrome (POTS) or neurally mediated hypotension, which are minor diagnostic criteria for hEDS and may contribute to symptoms. 1 If present, treatment includes lifestyle modifications (increased fluid/salt intake, compression garments), fludrocortisone, midodrine, or beta-blockers. 1

Common Pitfalls to Avoid

• Do not assume Marfan syndrome based on tall stature alone without aortic root dilatation and ectopia lentis 1
• Do not discontinue cardiac surveillance even with normal baseline echocardiogram, as aortic changes can develop over time in hEDS 1, 3
• Do not use opioids for chronic pain management in this population 1
• Do not rush to orthopedic surgery for joint problems without exhausting conservative measures first 1
• Do not overlook the need for multidisciplinary care involving cardiology, gastroenterology, pain management, physical therapy, and ophthalmology 1, 4