Primary lymphedema corresponds to a chronic increase in volume of a limb following the build-up of lymphatic fluid. It is related to a malformation of part or all of the lymphatic system.
Primary lymphedema(1) affects 1 in 6,000 people(2). This prevalence is approximate since sometimes the condition is not visible or is limited to a foot or toe and the patient does not consult a doctor. It is estimated that two thirds of sufferers are women(2).
Which profile is affected by primary lymphedema?
In more than 95% of cases(2), primary lymphedema affects people with no family history of the problem. In addition, there is a clear predominance of women. Depending on the age of onset, primary lymphedema is divided into 3 groups:
Congenital lymphedema: Edema develops from birth(3). This type accounts for 10 to 25%(2) of primary lymphedema cases. Cogenital lymphedemas include Milroy disease, which is hereditary.
Early-onset lymphedema: This type develops before the age of 35 years, often at puberty, and accounts for 65 to 80%(2) of primary lymphedema cases. There are also hereditary forms, like Meige disease.
Late-onset lymphedema: This type develops after the age of 35 years and accounts for 10% of primary lymphedema cases. Primary lymphedema usually affects the lower limbs (in 80% of cases), with one or both legs affected, and, more rarely, an upper limb, the face or the external genitalia(2).
How does primary lymphedema develop?
Primary lymphedema often develops suddenly, after a shock (physical or psychological), intense fatigue, an infection or a pregnancy. It develops gradually and the increase in volume is difficult to predict. To begin with, it may go unnoticed. The first symptoms of lymphedema are a feeling of tightness (“stretched skin”) or heaviness. It generally starts in the foot or ankle and can spread to the calf, thigh, buttock and pubic area. Initially, the edema is soft. Without any treatment and over time, lymphatic fluid builds up in the tissues, causing swelling and thickening of the skin. Bulky edema will restrict joint mobility and impair function. Infections called “erysipelas” are the most common complication. They concern 20 to 40% of cases of lymphedema(3). They are caused when Streptococcal bacteria develop in the limb affected by the lymphedema. Signs include the sudden development of a fever, chills, pain and redness of the limb and an increase in lymphedema volume. It is important to consult a doctor in this case, because it can become a medical emergency.
What are the risks of transmission of primary lymphedema?
In sporadic (non-hereditary) forms, an individual with primary lymphedema does not have an increased risk of having a child with the same condition. In hereditary forms (Milroy syndrome and Meige disease), there is a risk that depends on the mode of transmission of these diseases.
If you have any questions, ask your doctor for advice.
S. Vignes. Lymphœdèmes des membres [Lymphedema of the limbs]. EMC - Dermatologie 2016;12(1):1-12 [Article 98-575-A-10]. Doi: 10.1016/S0246-0319(16)67246-1.
Le lymphœdème primaire [Primary lymphedema] – November 2007 – Document produced with the collaboration of Doctor Stéphane Vignes / Consultation of the rare vascular diseases reference centre / Cognacq-Jay Hospital, Paris.
Lymphedema should not be a barrier to physical activity. On the contrary, sport has been shown to be beneficial in stimulating lymphatic circulation and improving the quality of life of those affected.
Lymphedema of the arm, also known as ‘big arm’, affects 5 to 20% of women treated for breast cancer. This uncomfortable condition, with a risk of complications, requires compression therapy and drainage of lymph fluid.
