Gastrointestinal (GI) symptoms in patients with hypermobile Ehlers-Danlos syndrome (hEDS) can develop due to a mobile cecum, an abnormality that leads to longstanding abdominal symptoms, according to a new case study.
The report, titled “Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature,” was published in the journal Internal Medicine.
EDS is a group of hereditary connective tissue disorders, with the most common subtype being hypermobile EDS (hEDS). This type is characterized by generalized joint hypermobility — a condition in which joints easily move beyond the normal range expected for that joint.
In recent years, many studies suggested that digestive symptoms, such as irritable bowel syndrome, gastroesophageal reflux disease, and constipation, can occur frequently in patients with hEDS.
While the cause of abdominal symptoms in hypermobile EDS patients is unknown, reports have suggested that visceral ptosis — when the abdominal organs sink below their natural position — is a possible cause.
Another possibility is a mobile cecum, which happens when the cecum (a pouch that connects the junction of the small and large intestines) and ascending colon fail to attach to the abdominal wall during the embryonic stage. Patients with mobile cecum syndrome usually have chronic pain in the right lower part of the abdomen.
This report details the case of a patient with a mobile cecum associated with hEDS.
A 21-year-old Japanese woman arrived at the Fukuoka Tokushukai Medical Center in Japan with a 10-month history of repeated colicky right lower abdominal pain, bloating, vomiting, and weight loss due to difficulty eating.
Because there was not enough evidence to make a diagnosis, the patient was first treated with a single oral dose of azithromycin for a suspected pelvic inflammatory syndrome, and then treated with a seven-day course of intravenous cefmetazole for suspected chronic appendicitis.
But the young woman’s condition did not improve.
Her medical history showed that the patient also suffered from minor episodes of general fatigue, night sweats, and palmar hyperhidrosis (uncontrollable sweating of the hands) during early adolescence. She also experienced nausea, headache, back pain, and dizziness in the past few years.
Lab tests showed that the patient’s blood cell counts, inflammatory marker levels, and liver, kidney, thyroid, and adrenal cortex functions were normal. Gastric tests also come back normal.
Therefore, physicians diagnosed the patient with functional gastrointestinal disorder, and she was treated accordingly for three months.
Still, her symptoms continued.
When she was re-examined, physicians noted several physical anomalies, such as blue sclera (blue coloration of the eyes), finger joint hypermobility, flat feet, and hallux valgus (a foot deformity).
Additional assessments showed the patient had joint hyperextension and postural tachycardia — a condition in which a change from lying down to standing causes an abnormal increase in heart rate.
Based on their observations, physicians suspected the woman had hypermobile EDS. The diagnosis was further bolstered by her family history, as both her brother and sister had marked joint hypermobility.
The patient was diagnosed with hEDS, and underwent a GI transit X-ray study to determine if she had gastrointestinal ptosis related to EDS. Physicians then discovered she had a mobile cecum, which contributed to her abdominal symptoms.
Surgical findings showed that the cecum and ascending colon were entirely unattached to the abdominal wall and were free to rotate. Surgeons then used sutures to fix the cecum and ascending colon to the abdomen.
After the procedure, the patient’s abdominal symptoms improved markedly, and she has remained recurrence-free after two years. The wound healed normally.
Based on this case, researchers wrote that the association between abdominal symptoms and hEDS “is not well known by most clinicians.”
There may be more patients with hypermobile EDS whose “unexplained gastrointestinal symptoms are ignored. We should consider the possibility of [hEDS] at least once when we encounter patients with unexplained gastrointestinal symptoms,” they wrote.