Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is unexpectedly common and is associated with a high rate of gastrointestinal manifestations.
We herein report the first documented case of mobile cecum associated with EDS-HT. A 21-year-old woman with repeated right lower abdominal pain was initially diagnosed with EDS-HT.
It feels exactly like what they describe here and what’s been my own lperception over the years: my flabby intestines don’t keep their location or their shape; it feels like they get “bunched up” and then painfully swollen behind some blockage.
Because they’ve always resolved in the past they don’t frighten me. (I just dig my fists deep into the painful spot and try to move it around.)
Abdominal examinations performed in the supine position, such as CT and ultrasonography, showed no gross abnormalities.
In contrast, oral barium gastrointestinal transit X-ray images obtained with changes in the patient’s body position revealed position-dependent cecal volvulus with mobile cecum.
A volvulus is when a loop of intestine twists around itself and the mesentery that supports it, resulting in a bowel obstruction. Symptoms include abdominal pain, abdominal bloating, vomiting, constipation, and bloody stool.Onset of symptoms may be rapid or more gradual
In a cecal volvulus, the cecum may be returned to a normal position and sutured in place, a procedure known as cecopexy. If identified early, before presumed intestinal wall ischemia has resulted in tissue breakdown and necrosis, the cecal volvulus can be detorsed laparoscopically.
She was finally discharged with a dramatic resolution of her symptoms after laparoscopic cecopexy for mobile cecum.
The overall frequency of EDS has been estimated to be 1 in 5,000.
In recent years, an increasing number of studies have suggested that functional digestive symptoms, namely irritable bowel syndrome, gastroesophageal reflux disease, and constipation are common complications in patients with EDS-HT
Mobile cecum is defined as the abnormal mobility of the cecum and ascending colon, which are not attached to the lateral or posterior peritoneal wall. This abnormality is thought to be the result of the failure of the right colonic mesentery to fuse with the lateral and posterior peritoneum during the embryological period
Patients with mobile cecum present with chronic right lower quadrant abdominal pain, similar to the present patient.
Laparoscopic cecopexy is probably the optimal strategy to treat mobile cecum syndrome
Our patient presented with long-standing gastrointestinal symptoms of unknown etiology. From the time of the patient’s first visit to our hospital, it took more than three months to reach the final diagnosis of mobile cecum associated with EDS-HT.
We herein demonstrate the detailed diagnostic process.
Gastrointestinal transit X-ray study with oral barium.
(A) The upright image obtained 3 hours after the oral administration of barium shows the cecum displaced medially with 180 degrees of torsion.
(B) The supine image shows the cecum and ascending colon located in a normal anatomical position.
(C) The image shows the cecum and ascending colon displaced toward the pelvic cavity when the patient changed from the supine position to the upright position on the fluoroscopic table.
(D) A left lateral decubitus image showing that the entire right sided colon dropped medially beyond the vertebral line.
At four months after admission, she finally underwent transumbilical single-incision laparoscopic appendectomy and cecopexy.
The intraoperative findings revealed that the cecum and ascending colon were entirely unattached to the retroperitoneal wall and were free to rotate.
Appendectomy could be performed extracorporeally through the umbilicus due to the mobility of the ileocecal region.
At least there’s some benefit…
The cecum and ascending colon were fixed to the lateral peritoneal wall with interrupted absorbable sutures.
Her abdominal symptoms dramatically improved soon after the surgery and she has remained free of recurrence over a 2-year follow-up period.
The surgical skin wound healed normally. Although her orthostatic symptoms remained unchanged after surgery, they were effectively treated with oral propranolol (20 mg, three times daily).
This case report raises several clinical implications.
First, patients with unexplained gastrointestinal symptoms, if non-fatal and long-standing, are often simply diagnosed with functional gastrointestinal disorder or psychosomatic disease (as in the present case). Without suitable management, there might be a long-term impact on their quality of life.
More importantly, the strong link between abdominal symptoms and EDS-HT is not well known by most clinicians. Given the high prevalence of EDS-HT, there might be many patients with EDS-HT in whom unexplained gastrointestinal symptoms are ignored.
We should consider the possibility of EDS-HT at least once when we encounter patients with unexplained gastrointestinal symptoms.
Second, several factors were associated with the delay in the final diagnosis.
On the gastrointestinal X-ray study with oral barium, the mobile cecum with right-sided colon ptosis was gravity-dependent and thus appeared in an anatomically normal location when the patient was in the supine position.
Moreover, the cecal volvulus, which was complicated by mobile cecum, and which probably contributed directly to the abdominal symptoms, occurred intermittently and reversibly without strangulation.
However, no signs indicating the torsion, obstruction or ischemia of alimentary tract were detected.
Our case suggests that confirming the anatomical changes of the gastrointestinal tract in several body positions can be a clue that may lead to an early diagnosis of mobile cecum
I’m going to try to remember this if I ever feel like my repeated gastrointestinal spasms and pain are beyond tolerable.
I can probably check this at home myself by lying down, sitting up, standing, and walking to see if the pain changes in any way.
Third, the patient’s abdominal symptoms resolved completely following laparoscopic cecopexy for mobile cecum.
However, the long-term postoperative prognosis of mobile cecum in patients treated by laparoscopic cecopexy remains unknown.
In addition, previous reports of surgical attempts to correct visceral ptosis in patients with EDS-HT suggested that surgery was ineffective due to a high rate of relapse.
Finally, overt extra-articular symptoms, such as POTS and abdominal symptoms, rather than occult joint hypermobility could be important indicators for EDS-HT, as they were in this case.
These strange situations are typical for EDS; you never know when the next body part is going to start failing – it’s *all* held together (or not) by connective tissue.
I blogged about a similar case previously: Visceroptosis and the Ehlers-Danlos Syndrome