Lymphedema in People with Turner Syndrome: Diagnosis and Treatment

How do doctors diagnose lymphedema?

If you are a parent or guardian of an infant with Turner syndrome, you may be the first person to notice puffiness of the hands and feet.

Your/your child's doctors will do a careful examination. Imaging tests are usually not required. There are special tests to image the lymphatic system, such as:

• Lymphoscintigraphy (imaging that uses radiation to make pictures of the lymphatic system)
• Magnetic resonance imaging
• Ultrasonography

What other medical conditions could be associated with lymphedema?

Certain heart defects are more common in Turner syndrome. This can include bicuspid aortic valve (when a valve, or opening, in the heart has two flaps instead of three) or coarctation of the aorta (narrowing of the aorta, the body’s largest blood vessel that runs from the heart down the center of the body).

How can doctors treat lymphedema of the legs?

Lymphedema can be controlled, but it cannot be cured completely. There are many ways to treat lymphedema of the legs, such as:

• Compression therapy. The most common treatment is the use of graded compression stockings.
• Compression pumps. These look similar to the boots people wear for a foot injury. A pump helps the lymphatic fluid flow better. It can also reduce swelling
• Manual lymphatic drainage. This is a special type of massage that has helped some people. It is done by special therapists.
• Consult with a lymphatic therapist. Ask the care team about how to arrange a consult with a lymphatic therapist.
• Referral to see a cardiologist (heart doctor). At MGfC or Mass General, you/your child may be referred to Ido Weinberg, MD, from Adult Cardiology.

Other ways to help control lymphedema include:

• Carefully trimming the nails. This helps avoid ingrown nails and cellulitis.
• Maintain a healthy weight.
• Moisturize the skin.
• Avoid hot tubs, saunas and hot baths

Did you know…?

Diuretic pills (water pills) are not helpful for lymphedema unless there is an additional serious problem.

Rev. 1/2022. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.