Dr. Gordon from the St-Georges University of London gave a enthusiastic and interesting presentation about genetic abnormalities that may cause primary lymphoedema. Lymph angiogenesis starts before birth and is ongoing during life. Primary lymphoedema is not one disease, it is the developmental of abnormalities due to a genetic fault. They have a multidisciplinary approach. Their team consists of genetics, dermatologist and lymphoedema therapists.
The classification of lymphoedema in congenital lymphoedema, lymphoedema praecox and tarda is outdated. Since 2010 they use a new classification system (see figure 1). Their main aim is to refine the phenotype of the patient; to refine the patient into the correct sub-group. This is important to screen for other diseases and also to inform other family members.
Figure 1. Classification system for primary lymphoedema (Connell et al 2013)
Clinical assessment of primary lymphoedema consist of:
- Determining age of onset and distribution of lymphoedema
- Are there other problems: venous disease, cardiac, infection, …
- Is there a family history of lymphoedema
Medical assessment of primary lymphoedema consist of:
- Venous duplex
- Skin biopsy
- Blood testing
Subtypes of primary lymphoedema (see figure 1):
- Associated with genetic syndromes (light blue)
-Associated with systemic lymphatic problems (pink)
- Late-onset (>1y old) (purple)
- Congenital (green)
- Associated with overgrowth disorders (yellow)
The new classification system helps to identify gene mistakes. Is there:
- Failure of initial lymphatic absorption
- Pump failure
- Lymphatic reflux
- Mal-development/ hypoplasia or downstream routes
- Not obstructive problem!
During the examination different questions are answered:
- Do they look like having genetic syndrome
- Is there an internal involvement
- Is there a cutaneous involvement
- Is there a congenital or later onset?
Finally they come to the testing of different genes:
- VEGFR3 - Miroy disease
- KIF11 - Have small head, problems with concentration, …
- Turner syndrome - Have growth problems, hormonal problems