Professor Sahar Mansour
Consultant and Honorary Professor
Primary lymphoedema is not one condition. It may be the main presentation or it may be a part of a more complex syndrome.?To date, mutations in 15 genes have been identified in association with primary lymphoedema in addition to several genes causing syndromes which may also present with lymphatic problems. ?A careful evaluation and investigations can lead to an accurate diagnosis. Identifying the correct diagnosis and genetic cause can improve the management of the patient. Each condition has its own presentation, complications and recurrence risks. ?I will present our diagnostic algorithm and what we understand about the genetics and the underlying mechanisms of primary lymphoedema so far.?