The Lymphatic System and Turner Syndrome
Females with TS who do not show any signs of swelling could be at risk for complications associated with lymphedema
The lymphatic system is comprised of a series of vessels and nodes that run alongside the blood vessel system, and works in conjunction with the cardiovascular system to maintain fluid levels within the body. It serves an immune function, as well as removing wastes from tissues. Lymphedema occurs when the lymphatic system is not able to handle the fluid load of the body. This can be due to malformed vessels, (congenital), or due to trauma to the vessels (secondary). Lymphedema is commonly associated with cancer treatment, but females with Turner syndrome are mostly likely to have lymphedema due to a lymphatic system that was not fully developed in utero.
Some may be affected by fetal edema (swelling) before they are born. Literature has linked cardiac defects and webbed neck to this, and several other presentations are suspected to be linked to fetal edema, as well, such as widely spaced nipples, low set ears, and low hairline. More research is needed to link more characteristics with fetal edema.
Not everyone with TS experiences swelling at birth, or any time in their lives. Others have it from birth throughout their lifetime. For others, swelling in the hands and feet can resolve by early childhood and never return, and there are some females who report the swelling returning at a later time in life.
In light of the many more serious issues facing females with TS, including cardiac and hormonal issues, lymphedema is not always the most urgent complication to address. It can often be ignored, especially when it does not create serious difficulties. This is certainly understandable, but for some females, ignoring the lymphedema can create difficulties that are more bothersome than life-threatening.
A study performed by Bellini (2006) performed lymphoscintigraphy (imaging test of the lymphatic system) with 18 females with TS, 15 of whom demonstrated a defective lymphatic system. Of these 15 females, 11 showed no signs of outward edema/lymphedema. This is an important finding, as it indicates that even females with TS who do not show any signs of swelling could be at risk for complications associated with lymphedema, or be at risk for developing it at some point in their life.
So, what does this mean for females with Turner syndrome? Certainly, for females that experience swelling, seeking a qualified lymphedema therapist to guide in treatment choices is vital. However, for all girls and women with TS, and their caregivers, knowing risk reduction factors, and basic facts about lymphedema management would help minimize any possible complications that could arise from lymphedema.
DID YOU KNOW?
At birth, some girls with TS are born with swollen feet and/or hands. This can be the first sign for doctors to test for Turner syndrome.