Rapunzel syndrome

Overview

Rapunzel syndrome is a rare and potentially life-threatening medical condition characterized by the formation of a trichobezoar, a mass of ingested hair in the stomach, with a tail-like extension that passes through the small intestine and, in some cases, into the colon. The syndrome is named after the fairy tale character Rapunzel, whose long hair is symbolically reflected in the elongated hair mass found in affected individuals.

This condition is most commonly seen in adolescent girls who suffer from psychiatric disorders such as trichotillomania (compulsive hair pulling) and trichophagia (compulsive hair eating). Due to the human gastrointestinal tract's inability to digest hair, the ingested strands accumulate and compact over time, leading to obstruction, malnutrition, and other severe gastrointestinal complications if left untreated.

Causes

The primary cause of Rapunzel syndrome is the repetitive ingestion of hair (trichophagia), usually as a behavioral manifestation of underlying psychological disorders. Key contributing factors include:

• Trichotillomania: A compulsive disorder characterized by pulling out one’s own hair, often linked to anxiety or obsessive-compulsive behaviors.

• Trichophagia: The subsequent ingestion of pulled hair, which leads to the formation of hairballs in the stomach.

• Psychiatric disorders: Conditions such as depression, anxiety, obsessive-compulsive disorder (OCD), post-traumatic stress disorder (PTSD), or autism spectrum disorders may be associated with trichophagia.

• Stress or trauma: A history of emotional trauma or neglect may trigger hair-pulling and ingestion behaviors in some individuals.

Once inside the stomach, hair strands resist digestion and tend to interlock and accumulate, eventually forming a dense mass known as a trichobezoar. In Rapunzel syndrome, this mass extends beyond the stomach into the intestines, causing a more complex and dangerous clinical picture.

Symptoms

Symptoms of Rapunzel syndrome vary based on the size and extent of the hairball but typically include:

• Abdominal pain: Often chronic and localized to the upper abdomen.

• Nausea and vomiting: Frequently occurs, especially after eating.

• Early satiety: Feeling full after consuming only small amounts of food.

• Weight loss: Resulting from reduced food intake and malabsorption.

• Palpable abdominal mass: A firm, often movable mass in the upper abdomen may be detected during physical examination.

• Constipation or gastrointestinal obstruction: In severe cases, bowel blockage may develop, accompanied by bloating and lack of bowel movements.

• Halitosis (bad breath): Due to decomposition of trapped hair and food particles.

• Patchy hair loss or alopecia: An indicator of trichotillomania in many cases.

If left untreated, the condition can lead to serious complications, such as perforation of the stomach or intestines, internal bleeding, and life-threatening infections like peritonitis.

Diagnosis

Diagnosing Rapunzel syndrome requires a high index of suspicion, especially in young females presenting with gastrointestinal symptoms and behavioral signs of trichotillomania. Diagnostic steps include:

• Clinical history and psychiatric evaluation: Inquiry into behavioral symptoms like hair pulling and eating is critical.

• Physical examination: May reveal signs of malnutrition, alopecia, or a palpable abdominal mass.

• Abdominal imaging:

  • X-ray: May show a dense mass in the stomach area, but findings are often nonspecific.

  • Ultrasound: Can detect an echogenic, intragastric mass with acoustic shadowing.

  • CT scan: Provides detailed images of the size and extent of the bezoar, including any intestinal involvement.

• Upper gastrointestinal endoscopy: Confirms the presence of a trichobezoar and assesses the condition of the stomach lining.

Treatment

Treatment of Rapunzel syndrome requires both physical removal of the hairball and psychiatric management to prevent recurrence.

1. Surgical Intervention

• Laparotomy: Open surgical removal of the trichobezoar is the most common and effective treatment for large masses with intestinal extension.

• Laparoscopy: Minimally invasive surgery may be used for smaller hairballs, though it may be less effective for Rapunzel syndrome due to the length and density of the hair mass.

• Endoscopic removal: May be attempted in early or small cases but is often insufficient for complete removal in full-blown Rapunzel syndrome.

2. Psychiatric and Behavioral Therapy

• Cognitive Behavioral Therapy (CBT): Effective in treating trichotillomania and trichophagia by helping patients recognize and change harmful behaviors.

• Pharmacologic treatment: Selective serotonin reuptake inhibitors (SSRIs) and other medications may be prescribed for underlying anxiety, depression, or OCD.

• Family therapy and counseling: Provides education and emotional support for caregivers and helps create a supportive environment for the patient.

Prognosis

With timely diagnosis and appropriate intervention, the prognosis for Rapunzel syndrome is generally good. Surgical removal of the trichobezoar typically leads to resolution of gastrointestinal symptoms, and patients often experience rapid recovery after surgery.

However, the long-term outcome depends on effective psychiatric treatment and behavioral modification. Without addressing the underlying mental health condition, there is a significant risk of recurrence. Long-term follow-up with both medical and mental health professionals is essential for sustained recovery.

Early intervention, supportive family involvement, and a comprehensive treatment plan significantly improve the overall prognosis and quality of life for individuals affected by Rapunzel syndrome.