Abdominal Compression Syndromes in the Hypermobile Ehlers-Danlos Syndrome

The median arcuate ligament syndrome (MALS) is the main cause of abdominal compression syndromes (ACS). Diagnosis is frequently missed for many years despite the unremitting epigastric and left upper abdominal quadrant pain, postprandial pain, postural relief, sitophobia, and weight loss. If MALS occurs in patients with hypermobile Ehlers-Danlos syndrome (hEDS) in which gastrointestinal symptoms are common, diagnosis is even more difficult. This study, based on an extensive experience (~8000) with various connective tissue disorders (CTD) and a review of our patients' records, revealed striking concurrence of MALS and hEDS in 45 patients. 80% had analyses of 5-37 CTD genes (COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PMEPA1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, FBN1), and up to 19 aneurysm genes. Clinical diagnoses of MALS were confirmed by abdominal CT scan, CTA, or MRA with duplex ultrasound assessment of celiac artery peak systolic and diastolic velocities. We found 93.3% were female, all had unremitting abdominal pain for < 1-35 years, 62.2% were 20-40 years of age, 93.3% reported postural relief, 95.5% had postprandial pain, weight loss > 25 lbs in 35.6%. We report for the first time that 11/45 patients with hEDS had May-Thurner syndrome, 4 having concurrent MALS. Total pain relief followed MALS resection and celiac plexus neurectomy in 28 patients thus far.