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 for 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 specializing 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 which applies Complete Decongestive Therapy (CDT), which is recognized as the "Gold Standard" treatment for Lymphedema.
Primary Lymphedema is not only a rare but also a neglected disease in many countries, especially in the world’s poorest communities. Additional research may open doors to new methods of treatment that are crucial to ending potential long-term 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.
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 cure. Read 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, thus preventing the need for debulking techniques. See video of the 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 in disease awareness, while putting names and faces to the millions that suffer from these conditions every day.
IMPORTANT NOTICE
Lymphedema is a serious chronic and progressive disease due to an organic disability. The clinical treatment of lymphedema is neither a cosmetic nor an aesthetic treatment. The treatment of lymphedema is to control its progression and alleviate the symptoms related to dysfunction of the lymphatic circulatory system. To prevent and avoid serious complications associated with treatment, such as the possible displacement of edema to previously unaffected areas when compression therapy is applied for volume reduction, patients should use highly specialized and experienced therapists.
Professional qualification and instruction delivered remotely online are not the same as live hands-on practical instruction in the clinical training and certification of lymphedema therapists, similar to all other rehabilitation, medical, and surgical training programs, and especially for developing the necessary manual skills to treat a disease as complex as lymphedema.
Patients should also take special care when choosing a "Multidisciplinary Center of Reference for Lymphedema", as not all countries 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 best treatment option for Lymphedema HERE.
- Read about what are the principal functions of Manual Lymphatic Drainage HERE.
- Read about what are the main differences between the two principal lymphedema treatment protocols HERE.
- Read about what are the strategies for the implementation of low-cost treatment options for Lymphedema HERE.
REFERENCES
(Click on the texts to read the research articles)
SCIENTIFIC SOCIETIES
PATHOPHYSIOLOGY
- lymphedema.
- Biology of Lymphedema
- Lymph vessels: the forgotten second circulation in health and disease
- Lymphatic Vessel Network Structure and Physiology
- Lymphatic System Flows
- Organ-specific lymphatic vasculature: From development to pathophysiology.
- The lymphatic vascular system: much more than just a sewer.
- The unresolved pathophysiology of lymphedema.
- Lymphedema: A Practical Approach and Clinical Update.
- Coagulation in Lymphatic System.
- Regulation of immune function by the lymphatic system in lymphedema.
- Oxidative stress in chronic lymphoedema.
- Regulatory T Cells Mediate Local Immunosuppression in Lymphedema.
- Hemostatic properties of the lymph: relationships with occlusion and thrombosis.
- Secondary lymphedema: Pathogenesis
- Gastrointestinal Lymphatics in Health and Disease
- Intestinal lymphangiectasia in adults
- Role of the lymphatic vasculature in cardiovascular medicine
- The lymphatic vasculature in disease
- Lymphoscintigraphic abnormalities in the contralateral lower limbs of patients with unilateral lymphedema.
- The Prevalence of Lower Limb and Genital Lymphedema after Prostate Cancer Treatment: A Systematic Review
- Peripheral Edema
- The lymphatic system and the skin. Classification, clinical aspects, and histology.
- Lymphedema and cutaneous diseases.
- Lymphedema and subclinical lymphostasis (microlymphedema) facilitate cutaneous infection, inflammatory dermatoses, and neoplasia: A locus minoris resistentiae.
- Serum Immune Proteins in Limb Lymphedema Reflecting Tissue Processes Caused by Lymph Stasis and Chronic Dermato-lymphangio-adenitis (Cellulitis).
- Lymphatic Flow: A Potential Target in Sepsis.
- Infectious complications of lymphedema.
- Acute inflammatory exacerbations in lymphoedema.
- Inflammatory Manifestations of lymphedema.
- Cellulitis.
- Clinical features, microbiological epidemiology, and recommendations for the management of cellulitis in extremity lymphedema.
- Challenges of cellulitis in a lymphedematous extremity.
- Diagnosis and management of cellulitis.
- Cellulitis risk factors for patients with primary or secondary lymphedema.
- Oedema as a risk factor for multiple episodes of cellulitis/erysipelas of the lower leg.
- Prevention of dermatolymphangioadenitis by combined physiotherapy.
- Erysipelas: a common potentially dangerous infection.
- Malignant tumors as complications of lymphedema.
- Lymphedematous areas: Privileged sites for tumors, infections, and immune disorders.
- Lymphedema-related angiogenic tumors and other malignancies.
- Lymphedema: an immunologically vulnerable site for the development of neoplasms.
- Lymph stasis promotes tumor growth
- A retrospective analysis of Stewart-Treves syndrome in the context of chronic lymphedema.
- Stewart-Treves Syndrome
- Congenital lymphedema complicated by pain and psychological distress: case report
- Lymphatic Pain in Breast Cancer Survivors
- Does Manual Lymphatic Drainage Have Any Effect on Pain Threshold and Tolerance of Different Body Parts?
- Lymphedema therapy reduces the volume of edema and pain in patients with breast cancer
- Quality of life in patients with primary and secondary lymphedema in the community
TREATMENT
- Treatment of limbs lymphedema.
- Nonoperative treatment of lymphedema.
- Lymphedema: From diagnosis to treatment.
- Lymphedema-clinical picture and therapy.
- Physiotherapeutic rehabilitation of lymphedema: state-of-the-art.
- Diagnosis and management of lymphatic vascular disease
- Effective treatment of lymphedema of the extremities.
- Lymphoscintigraphic aspects of the effects of manual lymphatic drainage.
- Intensive Treatment of Lower-Limb Lymphedema and Variations in Volume.
- Effectiveness and safety of Complete Decongestive Therapy of Phase I.
- Therapeutic Efficacy of Complex Decongestive Therapy in the Treatment of Elephantiasis of the Lower Extremities.
- Effects of Phase I complex decongestive physiotherapy on physical functions and depression levels in breast cancer-related lymph edema.
- Does lymphoedema bandaging reduce the risk of toe ulceration?
- Study of 700 referrals to a Lymphedema Program.
- Worldwide assessment of healthcare personnel dealing with lymphoedema.
- Földi M, Földi E. Földi’s textbook of lymphology for physicians and Lymphoedema therapists.
- Fluid Shifts Induced by Physical Therapy in Lower Limb Lymphedema Patients
- Visualization of Accessory Lymphatic Pathways, before and after Manual Drainage, in Secondary Upper Limb Lymphedema Using Indocyanine Green Lymphography
- The risk of genital edema after external pump compression for lower limb lymphedema.
- The management of genital lymphoedema
- The management of deep vein thrombosis in lymphoedema: a review.
- Lymphedema-associated comorbidities and treatment gap.
- A study of the advantages of elastic stockings for leg lymphedema.
- Indications for medical compression stockings in venous and lymphatic disorders: An evidence-based consensus statement.
- Medical compression stockings for chronic venous diseases and lymphedema: Scientific evidence and results of a patient survey on quality of care.
- Impact of Compression Therapy on Cellulitis (ICTOC) in adults with chronic edema: a randomized controlled trial protocol.
- Compression Therapy Is Cost-Saving in the Prevention of Lower Limb Recurrent Cellulitis in Patients with Chronic Edema.
- Occupational leg edema-use of compression stockings.
DISABILITY
- Disability and lymphedema.
- Lymphedema and employability.
- Worse and worse off: the impact of lymphedema on work and career after breast cancer
- Functioning in lymphedema from the patient's perspective using the International Classification of Functioning, Disability and Health (ICF).
- Unilateral upper extremity lymphedema deteriorates the postural stability in breast cancer survivors
- Postural Stability in Patients with Lower Limb Lymphedema
- Disability, psychological distress and quality of life in breast cancer survivors with arm lymphedema
DISFIGUREMENT
- Adjusting to disfigurement: processes involved in dealing with being visibly different
- Quality of Life in Cancer Patients with Disfigurement due to Cancer and its Treatments
- Quality-of-life and body image impairments in patients with lymphedema
- Association of lower extremity lymphedema with pelvic floor functions, sleep quality, kinesiophobia, body image in patients with gynecological cancers
QUALITY OF LIFE
- The impact of lower limb chronic oedema on patients' quality of life
- Quality of life in patients with primary and secondary lymphedema in the community
- Evaluating the effect of upper-body morbidity on quality of life following breast cancer treatment.
- Functionality and quality of life of patients with unilateral lymphedema of a lower limb: a cross-sectional study
- The effect of complete decongestive therapy on the quality of life of patients with peripheral lymphedema
PSYCHOSOCIAL IMPACT
- Psychosocial Impact of Lymphedema.
- Associations between chronic disease, age and physical and mental health status
- A network analysis of psychological flexibility, coping, and stigma in dermatology patients
- 'Abandoned by medicine'? A qualitative study of women's experiences with lymphoedema secondary to cancer, and the implications for care
- People are neglected, not diseases.
- Chronic edema/lymphoedema: under-recognized and under‐treated.
- Lymphatic Medicine: Paradoxically and unnecessarily ignored.
- Medical education: a deficiency or a disgrace.
PEDIATRIC LYMPHEDEMA
- NORD: Rare Disease Database - Lymphedema
- Medical management of lymphedema.
- Primary lymphedema in childhood.
- An approach to familiar lymphedema
- Pediatric Children Lymphedema
- Primary Lymphedema French National Diagnosis and Care Protocol (PNDS).
- Lymphatic filariasis: an infection of childhood.
- Lymphatic filariasis in children: clinical features, infection burdens and future prospects for elimination.
- Podoconiosis: Clinical spectrum and microscopic presentations.
- Podoconiosis: A Possible Cause of Lymphedema in Micronesia.
- A cross-sectional study to evaluate depression and quality of life among patients with lymphoedema due to podoconiosis, lymphatic filariasis, and leprosy.
- The impact of acute adenolymphangitis in podoconiosis on caregivers.
- Neglected tropical diseases and disability-what is the link?
- Locomotor disability in bancroftian filarial lymphoedema patients.
- Neglected patients with a neglected disease?
- Neglected tropical diseases and mental health: a perspective on comorbidity.
- People are neglected, not diseases.
- Addressing Inequity: Neglected Tropical Diseases and Human Rights.
- Neglected Tropical Diseases, Conflict, and the Right To Health.
- Peripheral Edema
- Phlebolymphedema
- Understanding Chronic Venous Disease: A Critical Overview of Its Pathophysiology and Medical Management
- Role of the lymphatic vasculature in cardiovascular medicine
- Communication between lymphatic and venous systems
- Phlebopathies and occupation
- Phlebopathies and workers
- Evidence of health risks associated with prolonged standing at work and intervention effectiveness
- Leg edema formation and venous blood flow velocity during a simulated long-haul flight
WHAT KIND OF DOCTOR TREATS LYMPHEDEMA/LYMPHOEDEMA - WHICH MEDICAL SPECIALITIES ARE RELATED TO LYMPHEDEMA?
WHAT IS THE BEST TREATMENT OPTION FOR PAEDIATRIC AND PRIMARY LYMPHOEDEMA?
WHAT ARE THE PRINCIPAL FUNCTIONS OF MANUAL LYMPHATIC DRAINAGE
WHAT ARE THE MAIN DIFFERENCES BETWEEN THE TWO PRINCIPAL LYMPHEDEMA TREATMENT PROTOCOLS
WHAT ARE THE STRATEGIES FOR THE IMPLEMENTATION OF LOW-COST TREATMENT OPTIONS FOR LYMPHEDEMA
WHY IS A BUTTERFLY THE SYMBOL OF LYMPHEDEMA?
WHAT DOES INTERMITTENT PNEUMATIC COMPRESSION PUMP THERAPY (IPC) DO, AND DOES NOT DO FOR LYMPHEDEMA?
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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
