Approximately 300 million people are affected globally by 6000 to 8000 different rare diseases and in Europe more than 30 million. Many of these diseases manifest during childhood, and some are devastating and even life-threatening.
Primary Lymphedema is not only a rare but also a neglected disease in many counties, especially in the world’s poorest communities. As the case for most rare diseases, inaccessibility to Lymphedema treatment, or the implementation of low-cost alternative ineffective solutions, due to the health policies of some national systems, can cause disease progression towards severe ELEPHANTIASIS STAGE, which means suffering serious infections, disfigurement, disability, loss of income, and even social discrimination for those affected. Read more about the symptoms and important complications of lymphoedema HERE.
Lymphedema is a disease of the skin due to lymphatic valve incompetence (Organic Disability) which causes inflammation and lymph fluid buildup. Lymphatic dysfunction can lead to skin changes and infections, disfigurement, and physical impairment (Physical Disability). Scientific studies highlight the importance and implications of compression therapy in controlling the progression of Lymphoedema. Clinical outcomes on interventions to manage lymphedema, show that simple hygiene-based measures are necessary, but these alone are not enough to reduce the limb size and volume. Read more about what is the best treatment for lymphoedema HERE.
Complete Decongestive Therapy (CDT) is not limited to lymphoedema stages I and II, and even late Stage III lymphoedema (elephantiasis) improves greatly with good results in the majority of cases, thus preventing the need for debulking techniques. Radical reductive ablative surgery (Charles Procedure), aimed to remove the diseased skin and subcutaneous tissue, should always be the last option, for it is frequently associated with significant blood loss, morbidity, infections, permanent disfigurement, and recurrence of symptoms.
With reference to pediatric lymphedema, it is essential that children diagnosed with lymphatic dysfunction, receive early preventive compression treatment with the first signs, to minimize fluid build-up and prevent later life severe clinical complications, disfigurement, and disability. With reference to lymphatic filariasis, recent tests have revealed that LF is first acquired in childhood, often with as many as one-third of children infected before age 5. Prevention and controlling early warning signs and symptoms are important since there is no cure. Read more about what is the best treatment for children with lymphoedema HERE.
Patients should be especially careful when choosing a Multidisciplinary Centre of Reference/Excellence for lymphedema, as not all counties and centers provide the same treatment options. The best choice is a center of reference that provides Complete Decongestive Therapy (CDT), which is recognized as the "Gold Standard" treatment for Lymphedema. Read more about what is the key difference between the two main treatment protocols HERE.
Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. Treatment for numerous rare diseases is insufficient, and many patients are not treated or undertreated by their healthcare providers. Patients not only need access to a prompt diagnosis but also their human right to access the best treatment possible, which the healthcare providers should make available.
