Intussusception

Related Terms

Bean syndrome, blood vessels, blue rubber-bleb nevus, blue rubber bleb syndrome, BRBNS, gastrointestinal tract, hemangioma, hemorrhage, lesion, veins.

Background

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition characterized by the malformation of the cutaneous (skin) and gastrointestinal (stomach and intestines) veins. Veins are blood vessels that carry blood back to the heart.
Symptoms of BRBNS usually appear at birth or in early childhood. Patients with BRBNS have from several to hundreds of lesions called hemangiomas, which are abnormal masses of blood vessels. Hemangiomas on the skin are usually 1-2 centimeters in size and blue or purple in color. These lesions may be painful or tender when touched, and they may be flat or elevated. Patients may also develop hemangiomas on internal organs, most commonly in the gastrointestinal tract.
Gastrointestinal hemangiomas may lead to chronic internal bleeding throughout the life of a patient, and in rare cases to a sudden internal hemorrhage (loss of blood from the circulatory system). Patients with BRBNS are often anemic, meaning they have reduced numbers of red blood cells.
The cause of BRBNS is not clear. Some evidence suggests that it may be due to the inheritance of a defective gene, but in many cases the disease appears to occur randomly. Only about 150 cases of BRBNS have been reported throughout the world, and the disease appears to affect males and females equally.
There is currently no cure for BRBNS. Most patients are able to live normal lives and have a normal life span if treated properly. Treatment includes lifelong iron replacement and repeated blood transfusions.

Signs and symptoms

Symptoms of blue rubber bleb nevus syndrome (BRBNS) are usually apparent at birth or by early childhood, but in some cases symptoms do not become apparent until adulthood.
BRBNS involves a malformation of cutaneous (skin) and gastrointestinal (stomach and intestines) veins, which are blood vessels that carry blood to the heart. This causes patients with BRBNS to develop hemangiomas, which are lesions consisting of a buildup of dilated, or expanded, blood vessels. BRBNS patients may develop anywhere from a few lesions to hundreds of lesions. These skin lesions are usually benign, that is, they do not become cancerous and invade other tissues.
Patients with BRBNS may develop hemangiomas on the skin. Skin hemangiomas are usually 1-2 centimeters in size and blue or purple in color. These lesions may be painful or tender when touched, and they may be either flat or elevated. They may appear anywhere on the body, but are most common on the upper limbs and trunk.
Patients may also develop hemangiomas on internal organs, most commonly in the small intestine and on other parts of the gastrointestinal tract. Hemangiomas have also been reported on other internal organs, including the kidney, liver, spleen, and lungs, as well as on joints. Internal hemangiomas are more likely to bleed than those on the skin.

Diagnosis

Blue rubber bleb nevus syndrome (BRBNS) is diagnosed based on the presence of hemangiomas on the skin and in the gastrointestinal tract.
Visual exam: Hemangiomas on the skin are visible and may be assessed by a doctor during a clinical exam.
Endoscopy: If hemangiomas are seen on the skin, doctors can perform an endoscopy to check for lesions in the gastrointestinal tract. In an endoscopy, a flexible tube with a light attached is inserted down a patient's throat. The endoscope can transmit images of the patient's gastrointestinal tract so that any lesions can be observed.
Magnetic resonance imaging (MRI): MRI is a noninvasive imaging technique that may be used to check for the presence of internal lesions. MRI uses magnetic waves and radio waves to take an image of tissues within the body.

Complications

Hemangiomas may lead to a number of complications, some of which are life-threatening.
Anemia: Gastrointestinal hemangiomas may lead to chronic internal bleeding throughout the life of a patient. This bleeding is often slow and minor but may result in a deficiency of red blood cells and iron over time. Anemia, a condition in which the number of red blood cells in the body becomes too low, may result. Symptoms of anemia include irritability and fatigue. Severe anemia may affect heart function and lead to heart failure.
Hemorrhage: In rare cases, a patient may have a sudden rupture of blood vessels and experience a large amount of internal bleeding, which is called a hemorrhage. These hemorrhages may be life-threatening.
Joint problems: It is common for hemangiomas to form around bones and joints in patients with BRBNS. This can lead to discomfort or pain when moving and potentially to loss of function of the affected joints.
Brain dysfunction: Hemangiomas that affect the blood supply to the brain may cause nervous system dysfunction, which may be life-threatening. Hemangiomas near the brain may hemorrhage, impairing the part of the brain responsible for vision and leading to blindness. Seizures or stroke have also been reported in patients with BRBNS. However, brain dysfunction is not very common in patients with BRBNS.
Intussusceptions: Some patients with BRBNS may develop an intussusception, which is an obstruction of the bowel caused when one portion of the bowel slides into another. This is typically caused by the presence of a hemangioma, and it may lead to swelling or inflammation of the bowel.
Bowel infarction: In severe cases, hemangiomas may completely restrict the flow of blood to the bowel, leading to bowel dysfunction. This condition, called bowel infarction, may result in death.
Internal bleeding: BRBNS may lead to internal bleeding, and patients may cough up or vomit blood. Patients may also experience nosebleeds, bleeding from the anus, or blood in the urine.

Treatment

Currently, there is no cure for blue rubber bleb nevus syndrome (BRBNS). If treated properly, however, most patients are able to live normal lives and have a normal lifespan.
Diet: Due to internal bleeding, patients with BRBNS may have low iron (which is stored in red blood cells). It is recommended that patients take dietary iron supplements and/or consume foods that are high in iron (such as beef, pork, poultry, or legumes).
Amputation: In severe cases of BRBNS, hemangiomas may cause the limbs to stop working properly due to enlargement and disfiguration. When this happens, amputation of the affected limbs may be necessary.
Surgery: When a blood vessel bursts, or if internal bleeding becomes excessive, surgery may need to be performed to stop the bleeding. In some cases, the part of the gastrointestinal tract that is causing the bleeding may be surgically removed.
Cosmetic surgery: Although the skin lesions that appear on patients with BRBNS are usually benign (they do not become cancerous and invade other tissues), patients may decide to have them removed for cosmetic or appearance reasons. Laser surgery may be performed to remove skin lesions. Laser surgery involves using a concentrated beam of light to cut and remove unwanted skin.
Transfusion: Patients with BRBNS may lose significant amounts of blood due to internal bleeding and, as a result, may require regular blood transfusions. A blood transfusion is the transfer of additional blood into the body through an intravenous line.

Integrative therapies

Note: Currently, there is insufficient evidence available on the safety and effectiveness of integrative therapies for the prevention or treatment of blue rubber bleb nevus syndrome (BRBNS). The integrative therapies listed below should be used only under the supervision of a qualified healthcare provider, and they should not be used in replacement of other proven therapies or preventive measures.
Strong scientific evidence:
Iron: Due to internal bleeding, patients with BRBNS may have low iron (which is stored in red blood cells). It is recommended that patients take dietary iron supplements and/or consume foods that are high in iron (such as beef, pork, poultry, or legumes). Ferrous sulfate (Feratab?, Fer-Iron?, Slow-FE?) is the standard treatment for treating iron deficiency anemia. Dextran-iron (INFeD?) is given intravenously by healthcare providers to restore adequate iron levels in bone marrow when oral iron therapy has failed. While the use of iron to treat iron deficiency anemia in BRBNS has not been well studied, it may be effective in treating the disease based on symptoms that patients exhibit.
Iron is a trace mineral and hypersensitivity is unlikely. Avoid with a known allergy/hypersensitivity to products containing iron. Avoid excessive intake. Avoid iron supplements with blood disorders that require frequent blood transfusions. Use iron supplements cautiously with a history of kidney disease, intestinal disease, peptic ulcer disease, enteritis, colitis, pancreatitis, hepatitis, alcoholism, or in those who plan to become pregnant or are over age 55 and have a family history of heart disease. Pregnant or breastfeeding women should consult a healthcare professional before beginning iron supplementation.
Good scientific evidence:
Vitamin C: Based on scientific research, vitamin C appears to improve the oral absorption of iron. Concurrent vitamin C may aid in the absorption of iron dietary supplements. While the use of vitamin C in BRBNS has not been well studied, it may be effective based on the symptoms that patients exhibit.
Vitamin C is generally considered safe in amounts found in foods. Vitamin C supplements are also generally considered safe in most individuals if taken in recommended doses. Avoid high doses of vitamin C with glucose 6-phosphate dehydrogenase deficiency, kidney disorders or stones, cirrhosis (inflammation of the liver), gout, or paroxysmal nocturnal hemoglobinuria (bleeding disorder). Vitamin C intake from food is generally considered safe if pregnant or breastfeeding. It is not clear if vitamin C supplements in doses higher than Dietary Reference Intake (DRI) recommendations are safe for pregnant or breastfeeding women. Vitamin C is naturally found in breast milk.
Unclear or conflicting scientific evidence:
Chondroitin: Early research suggests that taking chondroitin with iron may enhance iron absorption in healthy individuals. It is unclear whether taking chondroitin would help patients with iron deficiencies absorb more iron. More research needs to be done in this area before a strong recommendation can be made. While the use of chondroitin in BRBNS has not been well studied, it may be effective based on symptoms that patients exhibit.
Use cautiously if allergic or hypersensitive to chondroitin sulfate products and with shellfish allergy. Use cautiously with bleeding disorders and with blood-thinners like warfarin (like Coumadin?). Avoid with prostate cancer or increased risk of prostate cancer. Avoid if pregnant or breastfeeding.
Taurine: Early study suggests that taurine aids in the ability of iron supplements to increase hemoglobin, red blood cell count, and serum ferritin. Additional study is needed before a firm recommendation can be made. While the use of taurine in BRBNS has not been well studied, it may be effective based on symptoms that patients exhibit.
Taurine is an amino acid and it is unlikely that there are allergies related to it. However, allergies may occur from multi-ingredient products that contain taurine. Use cautiously with high VLDL cholesterol, hypertriglyceridemia, a history of low blood pressure, coagulation disorders, potential for mania, or epilepsy. Use cautiously if taking hypolipidemic, hypotensive, hypoglycemic, antiplatelet, or anticoagulant medications. Avoid the consumption of energy drinks containing taurine, caffeine, glucuronolactone, B vitamins, and other ingredients, and then consuming alcohol or exercising. Use cautiously if pregnant or breastfeeding. Taurine is a natural component of breast milk.
Vitamin A: Vitamin A supplementation in combination with iron may have beneficial effects in patients with iron deficiency anemia, including children and pregnant women. It is not clear if there are benefits in individuals who are not vitamin A deficient. This area remains controversial and further evidence is necessary before a clear conclusion can be drawn. While the use of vitamin A in BRBNS has not been well studied, it may be effective based on symptoms that patients exhibit.
Avoid if allergic or hypersensitive to vitamin A. Vitamin A toxicity can occur if taken at high dosages. Use cautiously with liver disease or alcoholism. Smokers who consume alcohol and beta-carotene may be at an increased risk for lung cancer or heart disease. Vitamin A appears safe in pregnant women if taken at recommended doses. Use cautiously if breastfeeding because the benefits or dangers to nursing infants are not clearly established.

Prevention

There are currently no known ways to prevent blue rubber bleb nevus syndrome (BRBNS). However, several treatments exist that may help manage the symptoms of BRBNS.

Author information

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography

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Causes

The cause of blue rubber bleb nevus syndrome (BRBNS) is not clear. Some evidence suggests that it may be due to the inheritance of a defective gene. However, no genes or mutations associated with BRBNS have been identified. In many cases, the disease appears to occur randomly.

Risk factors

There are currently no known risk factors for blue rubber bleb nevus syndrome (BRBNS). Most cases are thought to occur randomly, though some cases may be inherited. The disease appears to affect males and females equally.