What is Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)?
Blue Rubber Bleb Nevus Syndrome, also known as Bean Syndrome, is a rare condition characterized by abnormal veins that can appear in the skin and digestive system. Patients with this syndrome may have numerous abnormal veins in varying organs, including the liver, spleen, heart, eyes, and even their central nervous system, which includes the brain and spinal cord.
Raw with Bean Syndrome have a higher chance of experiencing a gastrointestinal hemorrhage, a serious condition where there’s severe bleeding in the digestive tract. They are also prone to have extremely low iron levels in their blood, which is known as severe iron deficiency anemia. To manage these complex health issues, people with this syndrome require a comprehensive healthcare approach, involving different medical specialists like hematologists, dermatologists, and gastroenterologists.
Their treatment mainly focuses on supporting the patient and managing potential complications. These can include conditions like volvulus, which is a twisting of the intestines; intussusception, which is when one part of the intestine slides into another part; and infarction, which is tissue death due to lack of blood supply. There’s also a risk of gastrointestinal bleeding, where they might bleed inside their digestive tract.
What Causes Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)?
Blue rubber bleb nevus syndrome, a disorder that usually occurs randomly, has been found in some cases to be passed down through families, specifically linked to a location on the 9th chromosome. Recently, it’s been discovered that changes in the TIE2 gene, which provides instructions for a protein in cells that line the walls of blood and lymph vessels, cause the disorder. In a study, 17 patients with the syndrome and six individuals with multiple abnormal clusters of vessels were examined. The majority of patients with the syndrome had changes in the TIE2 gene. Unlike usual singular vein abnormalities, multiple abnormalities are linked with two changes in the same location on one gene.
Risk Factors and Frequency for Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)
Blue rubber bleb nevus syndrome is an uncommon condition, with roughly 200 cases documented in medical studies. It has been found in people of all racial backgrounds, but is most often seen in White individuals. The syndrome impacts both males and females equally, and skin symptoms usually appear at birth or during early childhood. Involvement of internal organs typically becomes evident in early adulthood.
Signs and Symptoms of Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)
Blue rubber bleb syndrome is a condition that usually appears at birth or in early childhood. Affected individuals have multiple blueish, squishy bumps (nodules) on their skin or mucus membranes. Here are some facts about these nodules:
- Often, a person is born with one prominent lesion, but many more can develop over time.
- The skin lesions feel like rubber and may be painful, especially when pushed or at night.
- Lesions can be tiny (a few millimeters) or larger (up to 4-5 cm).
- With time, they can grow bigger and more might appear on the skin or inside the digestive tract.
- Some large lesions may look like blue marks and can disfigure the person’s appearance.
- Interestingly, these nodules tend to swell in positions relying on gravity, and patients may sweat more than usual in these areas.
Keep in mind that this syndrome can also lead to unusual blood vessel formations (venous malformations) throughout the body, including the heart, spleen, liver, nervous system, and intestines. They’re most commonly found in the small bowel but can show up anywhere along the digestive tract from the mouth to the anus. This might lead to severe iron deficiency anemia because these malformations can cause internal bleeding. Also, there have been instances of these malformations in the eyes, thyroid, salivary gland, muscles, lung, and bladder.
These venous malformations allow blood to flow through them slowly, which can sometimes lead to clotting. This presents as red, warm swelling that might feel tender when touched.
Testing for Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)
Aside from a doctor’s examination, there are several other ways that medical professionals can diagnose conditions. One of the first methods often used is an ultrasound – this is a non-invasive procedure that uses sound waves to capture images of the body’s internal structures. It’s useful to note that if there are suspicions of abnormalities in the blood vessels within the digestive tract, an ultrasound can also be done through an internal method called an endoscopy. Ultrasounds should be conducted by a qualified radiologist or ultrasound technician who is experienced with vascular problems.
In some cases, the radiologist interpreting the ultrasound images may not have the complete clinical history or the advantage of seeing the patient physically. Therefore, some recommend a visit to a specialized vascular anomalies center for an ultrasound. If the ultrasound does not give clear results or cannot be performed, the next step may be a MRI scan that uses a contrast dye and different imaging phases.
Other diagnostic tools that your doctor might consider include a CT scan, barium studies (which use a special dye to highlight the digestive tract in X-rays), or a skin biopsy. In some cases, a dye labelled with a radioactive element, Technetium-99m, is used in imaging to better locate the source and extent of bleeding.
One specific condition, called Blue rubber bleb nevi, can be examined using a tool called a dermoscope. This condition is characterized by light red vein patterns, undefined maculae (spots) on the palms and soles, and blue-purple lumps with small cavitated spaces separated by white lines.
Additional laboratory tests that may be useful include fecal occult blood tests (which check for blood in the stool), complete blood counts, iron panels (which check the levels of iron in your blood), and urinalysis (which can screen for bladder involvement and blood in the urine).
Treatment Options for Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)
Treatment for blue rubber bleb nevus syndrome, a rare condition characterized by vascular malformations or “blebs,” primarily involves managing the symptoms. The most important aspect is watching the progress of any lesions in the gastrointestinal (GI) tract and preventing serious bleeding. If the patient has low iron levels due to bleeding in the GI tract, iron replacement or blood transfusions may be necessary.
Various treatments are available for these vascular malformations, which are abnormal clusters of blood vessels. These include sclerotherapy (an injection that shrinks the blood vessels), band ligation (a technique to tie off the abnormal vessels), or laser photocoagulation (using heat from a laser to seal off the blood vessels). If the patient has significant malformations in their intestines, it may be necessary to surgically remove parts of the intestine to prevent life-threatening bleeding.
Medication can also be used to treat this condition, but effectiveness can vary. Some patients taking octreotide, a drug that decreases blood flow in the abdomen, have noted a decrease in gastrointestinal bleeding. This reduction may decrease the need for blood transfusions. Other potential drugs include corticosteroids, interferon-alpha, IVIG, and vincristine. A medication called sirolimus, an angiogenesis inhibitor that stops the formation of blood vessels, has been considered helpful in some cases, and may help patients avoid blood transfusions. However, the specific dosage and duration of treatment with sirolimus is not yet clear.
For patients who have developed bone complications due to the malformations, an evaluation by an orthopedic surgeon might be necessary. Patients may also receive care from a gastroenterologist for their GI symptoms, a hematologist for blood disorders, an ophthalmologist for vision issues, and possibly a cardiovascular or neurosurgeon if the brain or the central nervous system is affected.
What else can Blue Rubber Bleb Nevus Syndrome (Bean Syndrome) be?
When a doctor is trying to diagnose a condition called ‘blue rubber bleb nevus syndrome’, they also need to make sure it’s not one of the following conditions, which can look quite similar:
- Diffuse neonatal hemangiomatosis
- Familial glomangiomatosis
- Klippel-Trenaunay-Weber syndrome
- Maffucci syndrome
- Mucosal venous malformation syndrome
What to expect with Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)
People with a condition known as blue rubber bleb nevus syndrome typically live a normal lifespan. This is possible if bleeding in the digestive tract is managed and serious complications like a gastrointestinal hemorrhage (severe bleeding in the digestive tract) are avoided. However, the vein abnormalities associated with this syndrome will continue to exist throughout a patient’s life.
Possible Complications When Diagnosed with Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)
The blue rubber bleb nevus syndrome can lead to serious problems such as intense bleeding in the digestive system or a condition called ‘intestinal intussusception’, where a part of the intestine slides into another. Due to these problems, patients may frequently need blood transfusions throughout their life.
Major Risks:
- Intense bleeding in the digestive system
- Intestinal intussusception (a part of the intestine sliding into another)
- Regular need for blood transfusions
Preventing Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)
Doctors should explain to patients and guardians about the possibility of serious stomach bleeding and a health issue called intussusception in a condition known as blue rubber bleb nevus syndrome. Intussusception is when a part of the intestine folds into another part, like a telescope. If the patient experiences changes in their bowel movements or stomach pain, it’s essential they immediately seek medical attention, even if the symptoms seem not so intense. This is to ensure any complications are detected and treated as early as possible.
