Primary Lymphedema
What is it?
Lymphedema is a chronic disease characterized by the accumulation of lymphatic fluid in the body, causing swelling. The chronic, progressive accumulation of protein-rich fluid within the interstitium and the fibro-adipose tissue formation exceeds the capacity of the lymphatic system to transport the fluid, leading to skin and tissue changes. It can affect any part of the body, but it is more common in the extremities, and is clinically characterized by chronic gross swelling of the affected limb, localized pain, atrophic skin changes and susceptibility to infections.
Lymphedema is either primary or secondary in nature:
- Primary lymphedema is caused by alterations (mutations) in genes responsible for the development of the lymphatic vessels or nodes. Primary Lymphedema can be classified in: congenital (also referred to as Milroy's disease) present at birth with a prevalence of 1.15/100,000 new-borns and a predilection for women. Congenital lymphedema is also associated with other genetic conditions, including Noonan syndrome and Turner syndrome; praecox, if Lymphedema appears during adolescenceThis condition is also referred to as Meige disease, and it is the most common type of primary lymphedema. Swelling typically begins at the feet and progresses upward; or tarda, in case of late onset (after 35 years) of Lymphedema, which is uncommon and most frequent in female.
In aplasia cases parts of the system never develop in the body. Hypoplasia, where parts of the lymphatic system are underdeveloped, and hyperplasia, where lymph collectors are larger than normal, can also cause lymphedema. Limbs are mostly affected, significantly affecting patients' quality of life.
Lymphedema is rarely fatal, but it is a disabling disorder causing significant morbidity and its management is very demanding.
Which are the symptoms?
- swelling
- tingling
- numbness
- achiness
- feeling of fullness and tightness
- changes in the skin
- skin infections (cellulitis)
- sepsis
- leakage through the skin
- cancer (rare)
How is it diagnosed?
It is obviously important to discover the cause of the lyphedema, but it is also mandatory to define the type of lymphatic abnormality. Imaging tests are used to help diagnose, define and monitor lymphoedema.
Suggested exams
How is it treated?
Surgery is considered if other nonsurgical treatments aren’t effective. Not everyone is a candidate for surgery, but for some patients symptoms can be eased with a surgical procedure. Surgical procedures for lymphedema are divided in ablative and physiologic. In ablative surgery, the soft tissues, which are edematous and fibrotic, above the level of the deep fascia, are surgically removed with either direct excision or by liposuction,
Physiologic methods aim to recreate normal lymphatic patterns or alternative ways for lymph fluid to flow out of the affected limb. Two main physiologic procedures are currently considered effective to treat lymphedema. One is based on the creation of shunts between the congested lymphatic channels and the venous system proximal to the site of lymphatic obstruction. The other relies on the introduction of vascularized adipose tissue flaps which include vascularized lymph nodes to the affected extremity.
Suggested procedures
Where do we treat it?
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