Dr Pia Ostergaard and Dr Kristiana Gordon are investigating the genetic roots of primary lymphoedema, a condition that causes parts of the body to swell.
The lymphatic system is an essential part of our immune system, acting as a kind of ‘biological plumbing’ that removes excess fluid from tissues and helps fight infections. In people with a condition called lymphoedema, the system malfunctions and doesn’t drain fluid away properly. This causes pain and swelling (usually in the arms and legs), and also increases the risk of infection.
The lymphatic system runs parallel to the network of blood vessels that make up the circulatory system, but its structures are much more delicate and challenging to study. A lack of research into the lymphatic system and lymphoedema means that there is currently no cure and no effective medications. Instead, treatment focuses on using tight compression garments to stop fluid building up by squeezing it away.
Primary lymphoedema affects 1 in 6000 people
There are two types of lymphoedema, each of which have different roots. The most common is secondary lymphoedema, which is triggered by illness, injury or surgical removal of lymph nodes (for example, as part of cancer treatment). Primary lymphoedema is much rarer and is caused by faults in a number of different genes.
‘Although primary lymphoedema is a rare condition, we see lots of patients at the specialist lymphoedema clinic at St George’s Hospital’ says Dr Kristiana Gordon, who credits the integration between the University and the clinic with helping her investigate and understand the impacts of this rare disease.
‘We realised that some patients with primary lymphoedema had common features, so we began putting patients into small groups to investigate them together,’ she explains. Together with Dr Ostergaard and their teams, they have identified more than twenty categories of primary lymphoedema. Next, they are trying to figure out the underlying genetic changes that are involved.
‘These categories help us find the genetic faults that are causing the disease,’ says Dr Ostergaard, who is funded by the Medical Research Council and British Heart Foundation. ‘It also helps us identify patients that are at risk of complications. For example, one genetic change that causes lymphoedema also increases the chance that the patient will develop leukaemia. Once we know they have this specific gene mistake, the clinicians can monitor them and treat them before the leukaemia develops.’
Dr Ostergaard and Dr Gordon’s first goal is to be able to give everyone who walks into the Primary Lymphoedema clinic a specific diagnosis based on the precise features of their disease. Then the next step is designing treatments that target the underlying genetic causes of lymphoedema, to help fix the faulty ‘plumbing’ and make a real difference to patients’ lives.