What is Blue Rubber Bleb Nevus Syndrome?
Formerly called as Gascoyen syndrome, Blue rubber Bleb Nevus Syndrome, also known as Bean syndrome is an uncommon hereditary disease referring to the abnormality in the blood vessels, particularly in the small intestine and distal large bowel of the digestive system, in addition to multiple venous malformations involving most prominently the skin and soft tissues.
The condition carries a considerable potential for massive and fatal hemorrhage. Few patients may suffer from a very serious blood loss but most of the time; the bleeding in the gastrointestinal tract is sluggish, insignificant, persistent and occult. A number of vital organs can also be affected, such as the skull, oral cavity, kidney, heart, bladder, bones, muscles, lungs, spleen, eyes, glands, and central nervous system.
Affected individuals of the above vascular anomaly usually develop anemia due to persistent gastrointestinal hemorrhage and necessitate lifetime management with iron supplements and blood transfusions.
In the year 1860, the relationship between the cavernous skin hemangiomas and the gastrointestinal lesions was initially accounted by G. G. Gascoyen It was William Bennet Bean who originally described the syndrome in medical writing and who invented the medical term blue rubber bleb nevus syndrome in the year 1958.
This condition affects all races but it has been commonly reported in Japanese and White people. It affects both genders equally however, there are only about less than 200 cases documented globally. The survival rate will depend on the extent of organ involvement. Serial transfusions, close monitoring and observation can lower the magnitude of the disorder.
The disorder is clinically presented by the following distinctive manifestations;
- Initially, affected people present their cosmetic concern to a skin doctor.
- According to Bean, there are about three types of nodules in patients with Blue Rubber Bleb Nevus Syndrome. The first type is typically referring to the noncancerous, protuberant skin lesions which range from blue to violet in color and are insignificant in size, measuring for only less than 1 to 2 centimeters. This is the hallmark sign of BRBNS. These consist of skin and large blood vessels which have become enlarged. They infrequently bleed except when traumatized.
- Most of these nodules are asymptomatic and are frequently nocturnal in nature while some cause spontaneous pain and complain tenderness as a result of palpation.
- One distinctive characteristic of these cutaneous lesions is their compressibility nature, as suggested by the term “blue rubber-bleb nevi. They can be simply compressed and are rapidly refilled after compression.
- Patients are observed to have increased sweating on the affected skin. This is because the vascular lesions are in close proximity to the sweat glands.
- The second type of lesions can be described as macular or pinpoint lesions which have blue to black color and do not go pale when compressed.
- The third type of these cutaneous abnormalities is referring to well-circumscribed lesions which are subcutaneous in origin. These are likely to surface on the extremities, face, chest and perineal area.
- Lesions found on the skin are numerous which can vary from several to hundreds. These lesions may increase in size and number with an advancing age.
- There is a significant involvement of the gastrointestinal system. The venous malformations may be seen from oral up to the anal mucosa although primarily, there is small bowel affectation. The difference between a skin lesion and a gastrointestinal lesion is that the latter often bleeds.
- Commonly, affected individuals show evidence of gastrointestinal bleeding even at a young age which persists throughout their lives. Massive, unexpected bleeding hardly ever takes place. Instead, these sufferers are likely to become persistently anemic.
- Anemia is common among individuals with BRBNS. Because blood volume is at a low level, the amount of oxygen being delivered to the skin and tissues is depleted. The patient may look extremely pale and may look very exhausted due to minimal iron stores and anemia.
- Blood detected in the stool may suggest presence of an acute or chronic gastrointestinal bleeding.
- In very infrequent cases, lesions become too large that they lead to deformation of bones namely impaired ambulation, skeletal bowing, joint pain, fractures, overgrowth and articular derangement which when becomes very severe can lead to amputation.
- If the cerebrum and the cerebellum are already involved, the patient suffers from loss of sight as cavernomas in these areas can bleed into the occipital lobe.
While no genetic association has been established up till now to explain its development, it does not mean that a defective gene does not exist. To date, it has been proposed that the condition characterizes a symptom of a familial venous abnormality which is autosomal dominant in form and is related to TEK tyrosine kinase. It may be a result of a mutation on the 9th chromosome. Though not directly connected to the syndrome, the malformations of the blood vessels occur subsequent to the deregulation of the mutation of tyrosine kinase TIE-2 found on the 9th chromosome.
At present, there is no systemic therapy that can be viewed as a standard of care for this condition. Treating the skin lesions is usually needless except when these become uncomfortable or embarrassing. For these lesions, the patient can be scheduled for any of the following; use of carbon dioxide, laser therapies, electrodissection and scalpel dissection. One patient suffering from the clinical symptoms of DIC or disseminated intravascular coagulation was reported to have been stabilized and successfully treated after administration of oral steroids with a long term therapy of low dose interferon-beta. Another case was documented as successful in gastrointestinal hemorrhage reduction after a continuing subcutaneous octreotide therapy, a somatostatin analog. Experience with insistent surgical measures in treating gastrointestinal venous abnormalities of Bean syndrome suggests failure by reasons including; significant number of lesions, its position all over the digestive system and the chances of reappearance.
For gastrointestinal venous malformations, the medical and surgical care will markedly depend on the number, affected site, size and severity of manifestations. On occasion however, blebs are so numerous that absolute eradication is unfeasible.
When the patient is asymptomatic but with mild anemia, patient monitoring and iron supplements are already sufficient in most of the cases. Usually, the treatment for hemorrhage originating from gastrointestinal lesions is conservative. The patient is prescribed with iron supplements and is given with blood transfusion as necessary. When bleeding becomes frequent, a successful modality in this situation is endoscopic coagulation and removal. Based on past event, the use of endoscopic sclerotherapy is not highly efficient, worse, complications may arise as ulcerations and strictures develop. In cases when endoscopy cannot reach the hemangiomas for removal, laparoscopy might be needed.
When these vascular lesions are limited to a segment in the gastrointestinal system, yet, conventional approach falls short, the doctor may advise the patient to undergo resection of the affected segment. In performing this surgical procedure, vigilance must be observed as recurrence is potential after the excision.
For osteoarticular pathology, the appropriate management comprises orthopedic and supportive interventions. Paralysis can be managed by undergoing physical therapy.
The degree of the visceral organ involvement will notably determine the outlook of Blue Rubber Bleb Nevus Syndrome. It is still possible for new gastrointestinal lesions to reoccur, therefore, a periodic monitoring of gastrointestinal system ang hematological status is essential.
Initially, the patient must be assessed physically, noting the appearance of the skin and the nodules. The doctor must also check if the skin lesion has a characteristic compressible quality, rubbery texture, blue to purple color and if it refills after being compressed.
To examine the gastrointestinal tract, endoscopic procedure is always necessary. If lesions are found, then the clinical analysis is confirmed. Eventhough endoscopy is regarded as superior, other radiographic images may still be needed particularly when there is an involvement of the skeletal system.
Hematological studies and Stool Exam
The affected individual must undergo blood tests in order to evaluate anemia and iron deficiency. He is also required to have stool guaiac exam to check for presence of an occult blood. Urine exam may reveal hematuria suggesting presence of lesions in the urinary bladder.
Other Diagnostic exams
The patient may also undergo CT scan, abdominal radiography, MRI, endoscopy, colonoscopy, angiography and barium studies.