Medical Edge Newspaper Column

Underlying cause of leg swelling should be investigated

April 3, 2009
Dear Mayo Clinic:
Recently my legs have been swollen badly with the skin stretched and feeling like they are going to break open. The doctor I saw said it is Milroy syndrome and there is no medicine or treatment. Any information you can share would be appreciated.

Answer:
Milroy syndrome, also called Milroy disease, is a type of congenital lymphedema. Congenital means that a baby is born with the condition. In infants who have Milroy syndrome, parts of their lymphatic system aren't fully developed and don't function properly. Signs and symptoms of Milroy syndrome, primarily unexplained swelling, usually appear soon after birth.

If you haven't experienced leg swelling before, it's unlikely that Milroy syndrome is the cause. The syndrome does not develop later in life. However, another type of lymphedema could be to blame.

Lymphedema is a disorder that affects the lymphatic system. This system is a network throughout the body that starts with tiny lymph vessels in tissues. The lymph vessels absorb fluid and solid waste, and remove them from tissues. Think of these vessels as the body's garbage collectors. The waste and fluid (lymph fluid) is transported through the lymph vessels to the lymph nodes, which act like purification stations. Using infection-fighting cells (lymphocytes), lymph nodes filter out the excess fluid and solid waste, including harmful bacteria, and flush them from the body.

Lymphedema occurs when the lymphatic system is damaged or blocked and cannot effectively remove excess fluid and waste. Those substances then build up in the tissue, leading to swelling of the affected area. Some causes of impaired lymphatic system function include surgery, radiation treatment, infection, obesity, cancer and traumatic injury.

But, lymphedema isn't the only possible cause of your symptoms. Many medical conditions and diseases can cause leg swelling. Heart problems, liver or kidney disorders, and thyroid problems can all result in swelling. I recommend that you seek additional care from another physician, preferably an internist, who can look at the whole picture and conduct a thorough evaluation.

Diagnosing the underlying cause of leg swelling often includes a variety of blood tests. For example, your doctor may recommend testing your level of thyroid stimulating hormone, which gives a sense of how well your thyroid gland is working. A creatinine level in your blood can help reveal kidney problems. If a liver disorder is suspected, a group of blood tests, known as liver function tests, can help detect and diagnose liver disease or damage.

Heart studies, such as an electrocardiogram or an echocardiogram, along with a physical exam, can help determine if heart problems may be the source of swelling.

If your doctor believes the swelling may be due to a lymphatic system problem, an imaging test called lymphoscintigraphy may be ordered. A small amount of radioactive dye is injected into the affected area, then your body is scanned by an imaging machine. The resulting images show the dye moving through your lymph vessels and can reveal where lymph fluid is blocked.

These diagnostic tests will give your doctor a broad view of how well your body's systems are working and help determine if any areas need further investigation. Once an underlying cause for the swelling is found, your doctor can work with you to establish a treatment plan.

Unfortunately, if lymphedema is the source of the problem, there isn't a cure. But treatment is available that can effectively manage the condition. Exercise, bandages, special massage techniques and compression garments can all help reduce swelling by encouraging the flow of lymph fluid out of the affected limb.

Left untreated, lymphedema can lead to serious complications, such as repeat infections, chronic ulcers and skin hardening that can result in difficulty moving your legs (elephantiasis).

A second opinion regarding your leg swelling may provide valuable insight. It's important that you get a thorough evaluation of your condition, so that the underlying cause can be effectively diagnosed and treated.

—Andrea Cheville, M.D., Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, Minn.