What is Lymphoedema?
Lymphoedema is a chronic and often debilitating lifelong disease that can have a detrimental effect on both physical and mental wellbeing. There are two types of lymphoedema: Primary and Secondary. Our experts, Dr Kristiana Gordon and Professor Vaughan Keeley, provide information about both types below.
Introduction
Lymphoedema is the presence of chronic swelling (oedema) that occurs because of a failure of the lymphatic system to drain fluid from the spaces in-between the cells in our body. It may develop in someone with a previously healthy lymphatic system that has been damaged (for example, by cancer treatment) and this is called ‘secondary lymphoedema’. This is the most common type of lymphoedema. ‘Primary lymphoedema’ occurs when someone is born with an abnormal lymphatic system. There are many different types of primary lymphoedema, and it should not be considered as one single condition.
What is Primary Lymphoedema?
Primary lymphoedema occurs as a result of a genetic fault causing the lymphatic system to fail to develop normally or to be adequately maintained. This causes abnormal drainage of lymphatic fluid resulting in swelling of the affected region. Someone with primary lymphoedema usually only has swelling of one or both lower limbs, but some rarer forms of primary lymphoedema may occur in association with other health problems (Connell et al 2010).
Primary lymphoedema may occur as an inherited condition from a parent who has passed on a genetic mutation, but frequently there is no known family history. Even though someone with primary lymphoedema will have the underlying genetic fault at birth, the swelling may not develop until later in life. Doctors don’t really know how common primary lymphoedema is, but it has been estimated to affect at least 1 in every 1000 people (Moffatt CJ et al 2003).
Doctors have realised that primary lymphoedema is not one single disease, but the presenting feature of several distinct diseases, each with a different genetic mutation. Each type of primary lymphoedema is likely to have a different ‘mechanism of disease’, where a specific part of the lymphatic system fails to function normally. For example, some types of primary lymphoedema occur because of faulty valves within the lymphatic vessels (that are present to prevent backflow of lymph into the limb), and other types because of fluid absorption issues. It is important to understand the mechanism of lymphatic transport failure where possible, as doctors hope one day to be able to offer more targeted and effective treatments. In other words, we may be able to offer tailor-made treatment plans depending on the type of primary lymphoedema and the underlying gene mutation.
Diagnosing Primary Lymphoedema
Historically, primary lymphoedema was categorised into three groups based on the patient’s age at the onset of their swelling: ‘lymphoedema congenita’ (swelling is present at birth), ‘lymphoedema praecox’ (pubertal onset) or ‘lymphoedema tarda’ (swelling onset after 35 years of age). Some doctors still use this rudimentary classification system, but it fails to take into account any health problems that might be associated with the lymphoedema.
It is now well established that the different types of primary lymphoedema vary in age of onset of the swelling, affected sites, possible associated health problems, inheritance patterns and the underlying genetic cause.
Making the correct diagnosis is extremely important as it will allow doctors to identify what other problems the patient might be at risk of developing, and allow them to screen for them. Possible other health problems could include varicose veins, heart valve problems, immune problems, or internal lymphatic abnormalities. It is important to realise these are specific to the subtype of primary lymphoedema and most patients are not at risk of significant problems.
Management of Primary Lymphoedema
Unfortunately, gene therapy treatment is not yet available for primary lymphoedema. Until such time as ‘drug treatments’ become available, primary lymphoedema can be managed by physical treatments that improve swelling and reduce the risk of complications (such as cellulitis infections). These treatments are designed to stimulate lymphatic flow through existing or collateral drainage routes, and the approach is essentially the same as for patients with secondary lymphoedema.
Treatment should be overseen by a lymphoedema therapist and will usually involve the use of compression garments and/or bandaging regimes, with or without manual lymphatic drainage massage. Regular exercise, skin care (including management of cellulitis), weight management, and self-care are vital components of lymphoedema management. Psychological support must not be forgotten, as living with chronic lymphoedema can be difficult for patients (and parents) to come to terms with.
Continued research will lead to better investigations and treatments for all patients with lymphoedema in the future, but especially those with primary lymphoedema.
Primary Lymphoedema written by Dr Kristiana Gordon MBBS, CLT, MD(Res), FRCP
Consultant in Dermatology and Lymphovascular Medicine
What is Secondary Lymphoedema?
Lymphoedema initially develops as swelling because of the build-up of fluid in the tissues (oedema) due to failure of the lymph system to drain it. Traditionally it has been divided into two types: primary lymphoedema, which is caused by a likely genetically determined problem with the development or maintenance of the lymphatic system, and secondary lymphoedema, which is usually thought of as damage to an otherwise normal lymphatic system by some external factor, such as surgery, radiotherapy and infection. Secondary lymphoedema has, therefore, often been considered to be largely due to cancer treatment in temperate climates and due to the parasitic infection, filariasis, in tropical climates.
However, our understanding of secondary lymphoedema has had to be revised in recent years in light of a better understanding of the importance of the lymphatic system in draining all excess fluid from the tissues and therefore being a key component in all types of chronic oedema. Chronic oedema will only occur if the lymphatic system fails to drain all the excess fluid from the tissues.
In lymphoedema clinics, we see many people with chronic swelling e.g. of the legs, particularly in the elderly where the cause is due to a number of different factors. These include immobility perhaps due to arthritis or neurological conditions, obesity, venous disease such as varicose veins and sometimes heart failure. In addition, they may be taking medication, which can contribute to the swelling. Therefore, assessing which factors may be relevant in an individual patient is important in determining the best treatment for them.
Relatively little research on these different types of lymphoedema has been carried out in the past but, fortunately, there are more groups studying lymphoedema now and hopefully this will improve our understanding of the conditions.
Most of the research which has been carried out to date on secondary lymphoedema has focused on cancer treatment related lymphoedema but there have been small studies on other types such as that related to obesity and neurological conditions such as Multiple Sclerosis.
In this section, I will describe something of our current understanding of cancer-related lymphoedema and that related to obesity.
Cancer Treatment-related Lymphoedema
Most of the research has been carried out on breast cancer-related lymphoedema but lymphoedema may also arise as a result of treatments for gynaecological cancer, prostate cancer, melanoma and head and neck cancers amongst others.
There is still a lot we do not know about why some women get lymphoedema of the arm after breast cancer treatment and others do not. There is increasing evidence of a possible genetic predisposition to developing secondary lymphoedema but this has not been fully identified as yet.
We also do not understand why it may take months or even years before the lymphoedema develops after breast cancer treatment and the simple model of damage to the lymphatic system arising from lymph-node removal in the armpit or radiotherapy treatment does not explain the pattern which we see.
We know that a number of factors may predispose to the development of breast cancer lymphoedema of the arm such as the woman’s weight and the type of surgery and even some of the cancer treatments used such as taxane chemotherapy may increase the risk of developing it.
One of the current concepts is to try to identify those who are likely to develop lymphoedema of the arm following treatment so that we can intervene early in the hope of either reducing the severity of the problem or preventing it from developing altogether. Although research has identified certain risk factors, such that it may be possible to identify women who are more likely to develop lymphoedema, at present no particular intervention has been identified which is proven to prevent it from happening. Nevertheless, there may be some significant benefit from the early detection and treatment of mild lymphoedema, as it may reduce the risk of it increasing in severity over time. Some of the research evidence is encouraging in this area and from our own clinical experience, since we have been working closely with our local breast cancer unit and treating women with very mild lymphoedema promptly, we haven’t seen as many women with more severe arm swelling as we used to some years ago.
Obesity and Lymphoedema
There are a growing number of people presenting to lymphoedema clinics with lymphoedema predominantly of the legs due to weight problems.
We know that obesity has an impact on the venous circulation causing high venous pressure in the legs and also impairs lymphatic drainage. It is largely by these mechanisms that lymphoedema develops in this group. However, associated problems such as type II diabetes, obstructive sleep apnoea and reduced mobility may contribute.
We are also aware that obesity is a risk factor for developing cancer-related lymphoedema including that for breast cancer and that it is a risk factor for developing cellulitis in anyone with lymphoedema.
On the positive side, we are seeing evidence of improvement in the lymphoedema with sustained weight loss in many patients and in some to the point where it no longer requires any compression treatment. Although this is very encouraging, it is recognised that for many people, sustained weight loss is difficult to achieve.
Conclusions
The term secondary lymphoedema can be considered to cover a wide range of different conditions, which were previously not necessarily considered to be lymphoedema. It is far more common than primary lymphoedema. The causes in an individual patient may be quite complex and, therefore, a detailed assessment and, where appropriate, treatment of contributory factors such as heart failure and weight problems is helpful in achieving the best outcomes.
Secondary Lymphoedema written by Professor Vaughan Keeley PhD, FRCP
Consultant in Lymphoedema, Derby Lymphoedema Service and Hon. Professor, University of Nottingham Medical School.
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For the avoidance of any doubt, Matt Hazledine has lymphoedema and is not a medical professional.