Multiple digestive tract polyp syndrome (Generalized Gastrointestinal Polyposis Syndrome) refers to a group of syndromes that occur in middle-aged and elderly individuals, characterized by multiple digestive tract polyps (juvenile hamartomatous or inflammatory polyps), ectodermal abnormalities, and accompanied by severe intermittent diarrhea, abdominal pain, limb numbness, stabbing pain, and other gastrointestinal and neurological symptoms. This syndrome was first reported by Crokhite and Canada in 1955, hence it is also known as Cronkhite-Canada Syndrome. The age of onset typically ranges from 30 to 86 years, with a higher prevalence in males than females, approximately at a ratio of 1.5:1.

bubble_chart Pathogen

The cause of the disease is unknown, and no genetic factors have been identified. Some believe it may be related to a lack of delayed immune response in the small intestine. Pathologically, there is significant mucosal inflammatory reaction in the gastrointestinal tract, most notably in the stomach and small intestine. Polyps are most commonly found in the duodenum, with the terminal ileum also frequently affected. The diameter of these polyps can range from a few millimeters to 3 centimeters, showing considerable variation. Most scholars consider the observed polyps to be juvenile-type hamartomatous polyps, with gastric mucosal lesions resembling Menetrier's disease.

bubble_chart Clinical Manifestations

The most prominent clinical manifestation is diarrhea, which may be accompanied by abdominal discomfort, anorexia, nausea, vomiting, and trigeminal neuralgia. The diarrhea presents as loose, watery stools, occurring 5 to 7 times a day, and may include bloody stools or steatorrhea leading to malabsorption syndrome. Ectodermal abnormalities typically appear weeks to months before gastrointestinal symptoms, manifesting as changes in nail color—brown, white, yellow, or black—with scaly, wrinkled, or spoon-shaped surfaces. Nails may also become thin, cracked, loose, or fall off. Skin hyperpigmentation appears as brown spots, ranging from a few millimeters to 10 millimeters in diameter. Neurological symptoms may include limb numbness and stabbing pain, with some patients experiencing reduced or lost taste and smell. A few may have epileptic-like seizures or even syncope. Additionally, a significant number of patients develop malabsorption syndrome or protein-losing enteropathy, leading to malnutrition, hypoproteinemia, vitamin deficiencies, edema, and anemia. Common complications of this disease include gastrointestinal bleeding, infections, intussusception, malignancy, and thrombosis.

The main diagnostic criteria include:

1. gastrointestinal symptoms primarily characterized by diarrhea and abdominal pain, along with ectodermal abnormalities.
2. X-ray barium contrast imaging reveals multiple polyp images.
3. Gastrointestinal endoscopy shows diffuse multiple polyps.

bubble_chart Treatment Measures

There is no specific treatment for this disease, and the main approaches are symptomatic and supportive therapy. This includes correcting typical edema, electrolyte and acid-base imbalances, supplementing various nutrients, preventing and treating infections, and using antidiarrheal and pain-relief medications. Some reports suggest that corticosteroid therapy may improve the condition, reverse ectodermal abnormalities, or even lead to complete remission. Surgical treatment is only used for cases where polyps become malignant, or complications such as gastrointestinal bleeding, intussusception, or intestinal obstruction do not respond to medical treatment.

bubble_chart Prognosis

The prognosis is poor, with a mortality rate of up to 43%. Death often occurs within 6 to 18 months after diagnosis due to systemic malnutrition, cachexia, and secondary infections. The malignant transformation rate of polyps is relatively high. Currently, intravenous hyperalimentation therapy is widely used, which can significantly improve the prognosis of this disease.

bubble_chart Differentiation

This disease should be differentiated from hereditary gastrointestinal polyp disorders such as Peutz-Jeghers syndrome (with mucocutaneous pigmentation), hereditary intestinal tumor syndrome (Canada syndrome), Turcot syndrome, and Gardner syndrome. These conditions are not accompanied by ectodermal abnormalities, which aids in differentiation.