Leeds Beckett University - City Campus,
Woodhouse Lane,
LS1 3HE
Exploring Blue Rubber Bleb Nevus Syndrome: Diagnosis, Symptoms and Management
In a previous blog Jenny described living Blue Rubber Bleb Nevus Syndrome and how she has connected with Ghazala and Mark who are interested in pain and its management [read the blog here]. In this blog, we describe further the fascinating condition known as Blue Rubber Bleb Nevus Syndrome.
The Lancet Global Health report on the landscape for rare diseases in 2024 has shown that to date, there are approximately 300 million people live with rare diseases. Whilst rare diseases affect a small number of these individuals, fewer than 1 in 2000 people in any WHO region, there are more than 7000 types of rare disease in existence. Approximately 80% of rare diseases have a genetic cause. Nearly 70% of manifest in childhood, and about 30% of children die before age of 5 years. The average duration for accurate diagnosis is 4·8 years. Over 90% of rare diseases lack approved treatments, Clearly, the global burden of rare diseases is significant.
Blue Rubber Bleb Nevus Syndrome is a rare disease discovered by English dermatologist George Gaskoin in 1818, as reported by Gascoyen in 1860. However, it took 100 years before William Bennett Bean described the condition in detail and introduced the diagnostic term Blue Rubber Bleb Nevus Syndrome. Today, it is believed there are less than 500 known cases of Blue Rubber Bleb Nevus Syndrome worldwide, but with no patient registry for this condition it is difficult to determine the exact number of patients with it, and as little is known about the condition, diagnosis is challenging.
Blue Rubber Bleb Nevus Syndrome is defined as a congenital disorder characterised by venous malformations forming bluish ‘blebs’ filled with blood, typically found in the skin and gut, but may occur in the central nervous system, spleen, liver and muscles. The blebs are benign (non-cancerous) and can range from a few millimetres to several centimetres, appear blue in colour, similar in appearance to a blood blister. Diagnosis is based on the characteristics of the blebs and may involve endoscopy or imaging using MRI, CT or ultrasound equipment. Sometimes a biopsy may be carried out to confirm diagnosis.
Common symptoms of include visible blue or purple lesions on the skin that may be prone to bleeding, internal lesions that can cause chronic bleeding in the gut which can lead to anaemia and other medical complications which are sometimes life-threatening if not detected and managed promptly.
Pain and discomfort is common in affected tissues and neurological impairment can occur wherethe central nervous system is involved. Larger blebs may lead to blockages in the gut and infections if they bleed or ulcerate.
There is no cure for Blue Rubber Bleb Nevus Syndrome so regular monitoring is necessary. Medical management includes iron supplements for aneamia, antibiotics for infections and drugs to relieve pain and discomfort. A multidisciplinary approach and tailored treatment plan is optimal, including a healthy balanced diet especially if gut bleeding is of concern. Having a good social network is critical and connecting with support groups and networks can help with physical and emotional challenges that can affect quality of life.
Rare genetic diseases, such as Blue Rubber Bleb Nevus Syndrome, are fascinating in so many ways. It is our intention to explore them together, from both a scientific and living experience perspective.
Dr Ghazala Tabasam
Dr Ghazala Tabasam is a Senior Lecturer in Physiology and a core team member of the pain research team in the School of Health.
Professor Mark Johnson
Mark Johnson is Professor of Pain and Analgesia. Mark is an international expert on the science of pain and its management and the world leader on transcutaneous electrical nerve stimulation (TENS). He has published over 300 peer reviewed articles.
