• It is a term used to describe the appearance of a swelling which is not associated with any immediate obvious blockage, damage or destruction to the lymphatic system and thereby assumes that there has been or is some underlying structural or functional problem with the system.

• Hypoplastic (not enough lymph vessels) or hyperplastic (too many but dysfunctional vessels) can be a normal structural formation to some individuals.

• Somehow, when the load of materials waiting to be taken away by the lymphatic system is just too much to handle even under otherwise normal load conditions and the lymph system fails, and we can see no immediate obvious cause we call it a primary lymphoedema. This accounts for somewhere between 3 to 10% of all lymphoedemas.

• Results from the abnormal development of lymphatic system before birth. It is important to note that people will not necessarily development lymphoedema just because their parents or grandparents had the condition.

• Genes provide the blueprint for the body’s normal development, growth and everyday functioning. In all individuals, one in each pair of genes is inherited from the mother and the other from the father. Both of the genes in each pair are usually normal, but sometimes, there is an error in the genetic code of one or both genes in a pair.

• Lymphoedema is said to be congenital if it is present at birth or develops soon after, juvenile if it begins around puberty and adult if it begins during adulthood.

• The onset of the juvenile and adult forms may be associated with an infection or injury, but often there is no triggering factor that can be identified.
  
• Congenital lymphoedema
  
  
  • Is dominantly inherited, possibly from a parent, and affects boys and girls equally. The condition usually only occurs in the legs (typically affecting both legs with equal severity), but the genitalia and even the face and upper limbs can sometimes be affected. Its incidence is estimated to be 1 in 6000 births, which makes it one of the more common genetic disorders of childhood.
    
  • The basic problem is that the major lymphatic vessels fail to develop and there is also little or no development of alternative pathways for draining lymph fluid. Research suggests that this type of hereditary lymphoedema is usually caused by faults in the genes.

• Is also dominantly inherited, but differs from the congenital form in that it affects around twice as many girls as boys and commonly involves one leg more than the other. The condition is thought to be more common than congenital lymphoedema, but precise figures are not available.

• No gene has yet be identified as being responsible for this form of lymphoedema but, as with congenital, it is likely that at least one gene can cause the problem. Not everyone who inherits a gene for juvenile lymphoedema will go on to develop the conditon: about 80-85% do so, although those with the gene who never develop the disorder can still pass it on to their children.

Primary Lymphoedema Case Study

• First treatment at 6 months old. Had identified at least 4 fibrosis areas on the arms Had also suffered an episode of cellulitis infection 3 months prior to this visit. Hardening of the lower arm and purple finger tips were noted at consult.

• Initial Circumference difference between left and right arm was 36cm2 in Feb. Current difference is 31 cm2 in May’s measurement Fibrosis areas are soft and still dissolving.