Rapunzel Syndrome

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Diagnosis and reasoning

This patient has presented with chronic epigastric pain in association with a large epigastric mass. This is an extremely concerning duet of clinical findings; it is essential to determine if a gastric or pancreatic malignancy might be present. Other potential causes for this presentation include enlargement of the left lobe of the liver secondary to primary hepatocellular carcinoma or hepatic secondaries; pancreatic pseudocysts; an epigastric hernia; abdominal aortic aneurysms (AAA); and retroperitoneal lymphadenopathy. Analysis of the salient points in her history and examination are key towards narrowing down the above list of differentials. In this regard, note the presence of vomiting between 20 to 30 minutes following meals - this is suggestive of a pathology of the stomach (vomiting immediately after a meal would instead have suggested an esophageal pathology). Note also the presence of pallor, suggesting that she is anemic; this finding is worrisome for malignancy. The absence of pulsations or expansion makes a vascular origin unlikely, as does the fact that unruptured AAAs rarely cause nausea or vomiting. The absence of reducibility makes an epigastric hernia clinically less likely. Thus, a malignancy of the stomach is a serious concern here; note that the other diagnoses listed above cannot be differentiated between via clinical features alone. Imaging of the abdomen via an ultrasonography is an excellent first step in her workup; while this shows a mass in the stomach, the findings are nonspecific, and do not help narrow down the differentials. The next step should be upper gastrointestinal endoscopy (UGIE), which is the gold standard to evaluate a gastric mass. This shows a totally unexpected finding: a ball of hair nestled within the stomach. This is a trichobezoar! As the endoscope cannot pass beyond the stomach, computerized tomography (CT) should be employed to determine the extent of the trichobezoar; this shows it to extend upto the small bowel. Repeat questioning of the patient in this case revealed a history of compulsive hair ingestion (trichophagia); thus, this is a case of Rapunzel syndrome (a rare variant of trichobezoar). Definitive management involves removal of the trichobezoar; in Rapunzel syndrome, an initial gastrostomy followed by upper midline laparotomy is recommended. Note that laparoscopy and gastric lavage therapy are usually used to remove small bezoars. Psychiatric referral is also a must, given the presence of trichophagia, and most likely, trichotillomania. Iron deficiency anemia is a well known complication of Rapunzel syndrome, as the trichobezoar may cause gastric ulceration, resulting in gastrointestinal blood loss; thus, she should be started on oral iron replacement therapy.


Discussion

Rapunzel Syndrome (RS) is a rare condition characterized by the presence of a gastric trichobezoar (a collection of hair accumulated in the stomach) with intestinal extension. RS is mainly encountered in young females with psychiatric disturbances such as trichotillomania (a habit of pulling the hair) and trichophagia (chewing the hair). The reference to Rapunzel is possibly because the trichobezoar resembles a long tail, much like the eponymous character's hair in the fairy tale by the Brothers Grimm. These patients commonly present with nonspecific symptoms such as abdominal pain, heartburn, nausea, and vomiting. Therefore, they are often misdiagnosed during the early stages, and mostly recognized after the formation of an epigastric mass, which is the commonest presenting sign. Less often, patients may present with complications such as partial or complete bowel obstruction, hemorrhage, perforation with peritonitis, acute pancreatitis, obstructive jaundice, and gastric emphysema. Gastric trichobezoars can also give rise to gastric ulceration, resulting in gastrointestinal blood loss and iron deficiency anemia. RS is also associated with malabsorption related complications such as protein losing enteropathy, iron deficiency, and megaloblastic anemia. Upper gastrointestinal endoscopy (UGIE) is diagnostic in almost all cases; the size, configuration and most importantly, the extension of the trichobezoars are best revealed on a Contrast CT Scan. Note that ultrasound is not an efficacious diagnostic tool; this may reveal a hyperechoic curvilinear dense strip with acoustic shadowing and absence of through transmission; unfortunately, these features are not pathognomonic. The mainstay of management is removal of the trichobezoar and the prevention of recurrence by treatment of any underlying psychiatric illness. Removal of trichobezoar can be performed either via surgery or endoscopy. Endoscopic removal is more effective for small trichobezoars, but not for large trichobezoars such as those encountered in RS. Open surgery still remains the cornerstone of large trichobezoar removal especially if extension into the bowel is present. Gastrostomy, followed by upper midline laparotomy is the method of choice while minimally invasive surgery is also available for trichobezoars of small to moderate size. Other modalities such as lithotripsy, and gastric lavage therapy with papain, cellulase, and acetylcysteine are reported to have varying rates of success. Unfortunately, RS is accompanied by comorbid psychiatric disorders, such as depression, anxiety, obsessive compulsive disorders, eating disorders, and alcohol and substance abuse. Thus, recurrence is prevented by managing the underlying psychiatric disturbances using a combination of behavioral therapy, counselling and pharmacotherapy, along with relevant monitoring of the patient and timely follow up.


Take home messages

  1. Trichobezoars should be considered in the differential diagnosis of epigastric masses in young females.
  2. UGIE is diagnostic in virtually all cases of RS.
  3. The management of RS is usually surgical; laparotomy is the technique of choice.
  4. Proper psychiatric evaluation and follow-up is important to prevent recurrences.

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