domingo, 13 de febrero de 2022

WORLD RARE DISEASE DAY - Pediatric and Primary Lymphedema – Lymphatic Vascualr Disease - Lymphostatic Elephantiasis - Multidisciplinary Expert Centre of Reference / Excellence - Awareness Campaign

 

Globally approximately 400 million people are affected by the 6000 to 8000 different rare diseases and in Europe more than 30 million. Many of these entities manifest during childhood, and some are devastating and even life-threatening.

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 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.

Rare Disease Day is celebrated around the world On the 28 of February to bring awareness to conditions that often escape notice. The common thread between these diseases is their lack of knowledge in the general public and even in the healthcare field. While rare and neglected diseases take up different spaces in the health sphere, both experience a lack of awareness and research-based funding.

Celebrating Rare Disease day is a push to raise recognition about these diseases while encouraging the further study and public funding towards their timely treatments or final remedy. In some cases, the rarity and unfamiliarity of symptoms can lead to misdiagnosis, often causing more confusion and pain for the patient and their family. In the case of rare conditions like Primary Lymphedema, a patient’s best chance of receiving the care they need requires visiting a vascular surgeon specialized in lymphatic diseases or a high-quality Multidisciplinary Lymphedema Care Center. These centers and specialists are few and there are many patients who are misdiagnosed, undertreated, or even untreated. Read more about which country has the best public healthcare coverage of lymphedema HERE.

Education and improving access to health services are keys to the successful prevention of Lymphedema towards Stage III (elephantiasis) and consequently the stigma and disability associated with the illness. The First-line reduction strategy for patients with established lymphedema is Complete Decongestive Therapy (CDT). Manual Lymphatic Drainage (MLD) and compression are the cornerstones of therapy.  Regarding dermatolymphangioadenitis (DLA), also known as Infectious Cellulitis, studies have found that the control of swelling is associated with a lower risk of cellulitis, that advanced stages of chronic edema is a strong risk factor, and evidence also supports that compression garments are essential. Infectious cellulitis can lead to sepsis (septicemia). Read more about what are the preventive measures of Infectious Cellulitis in lymphedema HERE.

Primary Lymphedema patients should be especially careful when choosing a lymphedema Multidisciplinary Expert Centre of Reference/Excellence, as not all centers and counties offer or provide the same treatment options. The best choice is the Expert Reference Centre of Excellence that applies Complete Decongestive Therapy (CDT), which is recognized as the "Gold Standard" treatment for Lymphedema. Read more about the components that form part of the “Conservative Treatment” in the German Scientific Protocol HERE.

Primary Lymphedema is not only a rare but also a neglected disease in many counties, especially in the world’s poorest communities. Additional research may open doors to new methods of treatment that are crucial to ending potential long terms disability and very severe complications that threaten diseases due to Lymphatic dysfunction. As the case for most rare diseases, inaccessibility to Lymphedema treatment, or the implementation of low-cost alternative ineffective solutions, due to national health financing policies, can cause disease progression towards final Stage III -ELEPHANTIASIS, which means suffering disfigurement, disability, loss of income, and even social discrimination for those affected. Read about why the world is not treating a treatable disease like elephantiasis HERE.

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. Limb and genital Lymphedema should always be treated in their early stages, and not left undertreated till reaching its severe Stage III – elephantiasis. Read more about what is the best treatment for lymphedema HERE.

With reference to Pediatric lymphedema, it is essential that all children diagnosed with lymphatic dysfunction, including cases due to filariasis, which is also lymphedema, receive early preventive compression treatment with the first signs, to minimize fluid build-up and prevent later life severe clinical complications, disfigurement, and disability. Recent studies 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 cureRead more about childhood elephantiasis prevention HERE.

Radical reductive ablative surgery (Charles Procedure), aimed to remove the diseased skin and subcutaneous tissue in Stage elephantiasis, should always be the last option, for it is frequently associated with significant blood loss, morbidity, infections, permanent disfigurement, and recurrence of symptoms. Complete Decongestive Therapy (CDT) is not limited to lymphoedema stages 0 and I, and even late Stage III lymphoedema (elephantiasis) improves greatly with good results in the majority of cases, with correct compression therapy and garments, and thus preventing the need for debulking techniques. See video of treatment of elephantiasis HERE.

Primary Lymphedema is a progressive disease, and early diagnosis and treatment are paramount. Therefore, it is critical to diagnose and treat both mild and early onset cases to halt the progression of this lifelong and often debilitating condition. With the help of Rare Disease Day, we can draw attention to the disparity among disease awareness, while putting names and faces to the millions that suffer from these conditions every day.


REFERENCES

(Pinch on the texts to read the following Research Articles)

SCIENTIFIC SOCIETIES
DIAGNOSE 








  • WHAT KIND OF DOCTOR TREATS LYMPHEDEMA/LYMPHOEDEMA - WHICH MEDICAL SPECIALITIES ARE RELATED TO LYMPHEDEMA











LYMPHEDEMA INCIDENCE 
AND PREVALENCE
(click on the texts) 














Welttag der Raren Krankheit. Primäre Lymphödeme / Световен ден на редките болести. Първичен лимфоедем / Světový den vzácných onemocnění / 世界罕见病日。原发性淋巴水肿 / Verdensdagen for sjældne sygdomme. Primært lymfødem / Svetový deň zriedkavých chorôb. Primárny lymfatický edém / Svetovni dan redkih bolezni. Primarni limfedem / Ülemaailmne haruldaste haiguste päev. Esmane lümfödeem / Maailman harvinaisten sairauksien päivä. Ensisijainen Lymfedeema / Journée mondiale des maladies rares. Lymphoedème primaire / Παγκόσμια Ημέρα Σπάνιων Ασθενειών. Πρωτογενές λεμφοίδημα / Ritka betegségek világnapja. Elsődleges limfödéma / Giornata mondiale delle malattie rare. Linfedema primario / 世界希少疾病の日 原発性リンパ浮腫 / Pasaules reto slimību diena. Primārā limfodēma / Pasaulinė retųjų ligų diena. Pirminė limfedema / Wereld Zeldzame Ziekte Dag. Primair lymfoedeem / Wereld Zeldzame Ziekte Dag. Primair lymfoedeem / Dia Mundial das Doenças Raras. Linfedema primário / Ziua mondială a bolilor rare. Limfedemul primar / Всемирный день редких заболеваний. Первичная лимфоэдема / Världsdagen för sällsynta sjukdomar. Primärt lymfödem / Wêreld Seldsame Siekte Dag. Primêre limfedeem



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