Cronkhite-Canada syndrome is a hamartoid polyp syndrome of the gastrointestinal tract that results in malnutrition and hair loss. Many of the patients develop carcinoma of the stomach or intestine during the course of the syndrome, so the prognosis is considered rather unfavorable. Treatment of the disease has so far been exclusively symptomatic, as the causes have not been conclusively determined.
What is Cronkhite-Canada syndrome?
Polyps are outpouchings of the mucosa that can become benign or malignant. All polyp diseases within hollow organs are grouped together as polyposis. Polyposis gastrointestinalis is a subtype of this disease group. Polyp diseases of the gastrointestinal tract, which are often accompanied by several hundred polyps, are subsumed under this technical term. In the gastrointestinal tract, polyps are associated with bleeding, digestive symptoms such as diarrhea and constipation, and colic. Cronkhite-Canada syndrome (CCS) is a gastrointestinal polyposis syndrome. It is a non-heritable disease of the gastrointestinal region characterized by skin lesions in addition to gastrointestinal symptoms. The disease was first described by the US internists Cronkhite Jr. and Canada. It is a rather rare disease that has been described in about 500 cases to date and usually occurs in late adulthood. The disease is now classified as hamartous polyposis syndrome.
Causes
The pathogenesis, including the exact mechanisms of development, has not yet been conclusively determined for Cronkhite-Canada syndrome. Since no familial clustering has been observed in the cases documented to date, a genetic cause has been approximately ruled out. The vast majority of cases have been observed in patients of Japanese nationality or ancestry. Only one-third of the affected individuals were from North America. Among the Japanese cases, males were more commonly affected than females, with a ratio of 2:1. No gender preference appears to occur in the rest of the world. It is possible that altered intestinal function in terms of digestion, motility, absorption, and secretion, as well as bacterially enhanced colonization, play a causative role in the disease onset. However, the primary cause of these factors involved remains completely obscure to date. Due to the geographic clustering, an involvement of external factors is within the realm of possibility. Because the syndrome occurs preferentially at older ages, age-specific changes are also conceivable.
Symptoms, complaints, and signs
In most cases, patients with Cronkhite-Canada syndrome do not develop manifest symptoms until they have passed the age of 50 years. Early symptoms usually consist of watery diarrhea with absorption disorders and malnutrition symptoms, partial or total loss of taste and appetite, and weight loss of up to ten kilograms. General weakness sets in as a result of malnutrition. Almost all patients suffer from phenomena such as hypoproteinemia or hypalbuminemia. Due to the persistent diarrhea, nail dystrophy with partial complete nail loss often occurs in addition to hair loss. In addition, many patients suffer from hyperpigmentation, which manifests as diffuse light to dark brown patches. As the disease progresses, some patients develop neurological sensory disturbances such as numbness or tingling. Convulsions may also occur. Apart from this, accompanying autoimmune disorders such as hypothyroidism or membranous glomerulonephritis often occur. Polyps in the gastrointestinal tract are usually generalized in the disease. In addition to gastric polyps, colonic polyps are the most common. The small intestine is also usually involved. The esophagus may also contain polyps. In the late phase of Cronkhite-Canada syndrome, carcinomas of the intestine or stomach often occur.
Diagnosis and course
The diagnosis of Cronkhite-Canada syndrome is made by characteristic clinical and endoscopic findings. A biopsy is taken from the polyps. The tumors are characterized by a broadly seated base, often show widened edematous lamina propria, and are usually characterized by cystic glands. In the course of diagnosis, differential diagnoses to generalized juvenile polyposis, hyperplastic polyposis, cap polyposis and Peutz-Jeghers syndrome are made.In addition, CCS must be differentiated from lipomatous polyposis, nodular lymphoid hyperplasia, inflammatory polyposis, and lymphomatous polyposis. Prognosis tends to be unfavorable for patients with CCS due to an increased risk of carcinoma of the gastrointestinal tract and malnutrition states. Remissions are common. Despite the risk of mortality, long-term survivors have been described.
Complications
In most cases, Cronkhite-Canada syndrome results in severe hair loss, which can occur in different parts of the body. Likewise, the syndrome leads to malnutrition and consequently underweight. Underweight is a very unhealthy condition for the human body in any case. Most of the affected people suffer from watery diarrhea. This can severely restrict the patient’s everyday life. In this case, the malnutrition cannot be compensated by excessive eating, because the patient suffers from an absorption disorder and cannot absorb the nutrients. Often there are also taste disturbances in the mouth and the affected person has no appetite. Likewise, a general feeling of weakness and sickness occurs. It is not uncommon for patients to lose consciousness. There may also be sensory disturbances in various regions of the body, which can lead to numbness, for example. Medication is usually used in the treatment of Cronkhite-Canada syndrome. However, no efficacy can be guaranteed. Intensive therapy is necessary in cases of severe bleeding or anemia. As a rule, life expectancy is reduced by Cronkhite-Canada syndrome. However, further complications depend on the patient’s health circumstances.
When should you see a doctor?
If there is watery diarrhea, stomach pain, loss of appetite, and general weakness, Cronkhite-Canada syndrome may be present. A visit to the doctor is advisable if the symptoms have not subsided after a few days, if there is a sharp decline in well-being, or if other symptoms develop during the course of the disease. With sensory disturbances, cramps and hair loss, a doctor should be consulted quickly. If deficiency symptoms or signs of dehydration are noticed, it is best to contact the emergency medical service or the affected person should be taken to the nearest hospital. Medical clarification and treatment is necessary in any case with the mentioned complaints – regardless of whether it is CCS or another disease. Cronkhite-Canada syndrome primarily affects people over the age of 50. The disease has been observed particularly frequently in male patients of Japanese nationality or ancestry. Anyone with these risk factors should talk to their general practitioner if they have any of the symptoms mentioned above. Other contacts are the gastroenterologist or the emergency medical service.
Treatment and therapy
Causative treatment for patients with Cronkhite-Canada syndrome is not yet available because the etiology has not been conclusively determined. Therapy is symptomatic and focuses on balancing fluid balance, electrolyte balance, and protein loss. Treatment modalities such as dietary supplementation are considered as well as conservative drug treatments with antibiotics, corticosteroids, anabolic steroids, acid inhibitors or cromolyn. In addition, the administration of zinc has been described, which in individual cases has been able to improve prognostic negative factors such as Helicobacter pylori. A consistent efficacy could not be established for any of the symptomatic therapies so far. Invasive interventions are available for the treatment of complications. Regular follow-up of the disease is essential to detect and treat malignant degeneration early enough. In case of complications such as anemia, hemorrhage, cardiac’n insufficiencies or infections, intensive therapy is performed. If neurologic symptoms such as abdominal pain are present, supportive symptomatic treatment with analgesic drugs is given.
Outlook and prognosis
In most cases, Cronkhite-Canada syndrome does not result in a positive disease outcome. Since the causes of the disease are also not fully understood, only symptomatic treatment is possible. The life expectancy of the affected person is significantly reduced by the syndrome.Without treatment, patients suffer from very severe pain and cramps in the stomach and abdomen, which also significantly reduces the quality of life. The treatment itself is based on the pain and on balancing the electrolyte balance. However, the symptoms can only be partially limited. Certain insufficiencies or deficiencies must then be treated by taking supplements. Frequently, Cronkhite-Canada syndrome also leads to psychological complaints, which, however, can occur not only in the patient, but also in the relatives and parents. However, if Cronkhite-Canada syndrome is detected at an early stage, the chances of a longer life expectancy increase. For this reason, affected individuals should participate in regular screenings to diagnose and treat the disease at an early stage. A special diet plan can also limit some of the symptoms of the disease.
Prevention
In the context of Cronkhite-Canada syndrome, no prophylaxis exists to date because the causes of the condition are largely unknown. At best, preventive measures against apparent risk factors such as increased bacterial colonization can be pursued. General health prophylaxis for the gastrointestinal tract can at least do no harm. However, whether these preventive measures can serve a specific purpose in the context of Cronkhite-Canada syndrome is anyone’s guess.
Follow-up
There are usually few to no aftercare measures available to the affected person with Cronkhite-Canada syndrome. In this case, this disease must always be treated by a physician, since it cannot heal on its own and, in the worst case, if left untreated, the affected person will die. The earlier the Cronkhite-Canada syndrome is detected, the better the further course of the disease usually is. In most cases, however, the disease reduces the life expectancy of the patient. Most of the symptoms of the syndrome can be relatively well alleviated by taking medication. The affected person should always pay attention to a regular intake and also to a correct dosage. In case of any uncertainties or questions, a doctor should be consulted first. A doctor should also be contacted if there are any interactions or side effects. Since Cronkhite-Canada syndrome causes discomfort in the intestines, the affected person should avoid fatty or very sweet foods. In general, a healthy lifestyle with a healthy diet has a positive effect on this disease. Whether it comes thereby to a reduced life expectancy, cannot be predicted thereby in general.
What you can do yourself
Cronkhite-Canada syndrome is a very serious disease that should not be self-medicated under any circumstances, even if the symptoms in the early stages strongly resemble those of a harmless digestive disorder. However, many affected individuals develop malignant tumors in the gastrointestinal tract during the course of the disease. The earlier these tumors are discovered and adequately treated, the greater the patient’s chances of survival. An important step towards self-help is therefore not to simply classify diffuse digestive problems whose causes are unknown as harmless and accept them, but instead to consult a doctor at an early stage. Even if no carcinomas are discovered after the syndrome is diagnosed, they may form spontaneously. Patients should therefore be sure to attend all the preventive examinations suggested by the attending physician. Some of the symptoms, especially hair loss or changes in the skin and nails due to malnutrition, can be addressed by the affected person by taking nutritional supplements. However, over-the-counter supplements should only be consumed after consulting a physician. Weight loss caused by loss of appetite can be prevented by having a diet plan drawn up and following it consistently, even if the person feels neither hunger nor appetite. Calorie intake is often easier in liquid form. Patients should therefore seek the advice of a nutritionist about special products if necessary.
