When a 38-year-old woman showed up recently at a U.S. hospital complaining of severe nausea, vomiting, constipation and unexplained weight loss, doctors were at first baffled.
The woman’s abdomen was protruding abnormally and she was anemic, but she appeared otherwise healthy — no fever, no abnormal heartbeat, no raised white blood cell count, and no signs of kidney or liver problems.
After completing a battery of tests, the hospital’s doctors suspected the woman had some kind of intestinal obstruction, perhaps due to abdominal tuberculosis or to a malfunction of the intestines’ nerves and muscles.
They decided to operate, and were surprised by what they found: a large, 6-by-4-inch hairball with a small “tail” that extended into the woman’s small intestine. Further exploration revealed a second hairball, this time about 1.5 inches in diameter, inside the small intestine.
By blocking protein absorption, this smaller hairball was the most likely cause of the woman’s anemia, the doctors determined. Both hairballs were removed.
A rare condition
As explained in an article published last week in the journal BMJ Case Reports by several doctors involved in this case, the woman had developed “Rapunzel syndrome,” an extremely rare condition in which a hairball is found in a patient’s stomach, with some hair also extending into the small intestine — or even all the way to the colon.
Named after the longhaired heroine of the Brothers Grimm fairytale, Rapunzel syndrome is associated with trichotillomania, a psychiatric illness in which patients have an overwhelming urge to yank out their hair — an action that brings them a sense of relief and/or pleasure.
An estimated 1 percent to 4 percent of people living in the United States are believed to have trichotillomania. About 5 percent to 20 percent of those patients chew and ingest the hair.
Hair does not break down in the intestinal tract. So, if too much of it is swallowed, clumps of hair (trichobezoars) will form. The condition — Rapunzel syndrome, or trichophagia — can have serious complications, including anemia, jaundice, bowel obstruction, bowel perforation, appendicitis and pancreatitis.
The woman’s doctors reported finding 88 previous cases of Rapunzel syndrome in the medical literature. Most (69) involved children and adolescents, and almost all (83) of the patients were female. Frequently, the patients had other psychological disorders, including depression, anxiety, bulimia and adjustment disorder.
Need for early intervention
According to the National Organization for Rare Disorders, trichotillomania is a type of obsessive-compulsive disorder. Its exact cause is unknown, but some people appear to be genetically predisposed for the condition, which may then be triggered by stress or trauma. Research suggests that structural or functional brain abnormalities may also play a role.
Trichotillomania is treated with cognitive behavioral therapy and medications, although no single treatment approach has been found to be universally effective.
To avoid the kinds of severe complications experienced by the 38-year-old woman in the current case, early diagnosis of the condition is essential, say the woman’s doctors. They hope that by publishing her story, other patients with the condition — particularly children, who are most vulnerable to developing the illness — will receive help earlier.
FMI: You’ll find an abstract of this latest case report on Rapunzel syndrome on the BMJ Case Reports website, but the full paper is behind a paywall.