Living with Lipodystrophy

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Lipodystrophy is an uncommon disorder physically characterized by pre-mature ageing. Lipodystrophies can be acquired (Lipodystrophy in HIV-infected patients, acquired partial lipodystrophy, acquired generalized lipodystrophy, localized lipodystrophy), or inherited (Congenital generalized lipodystrophy [1,2], familial partial lipodystrophy, PPARy mutation, Type A,B lipodystrophy).  This article’s focus will be on Congenital Generalized Lipodystrophy,(CGL), known as Berardinelli-Seip Syndrome. Why the focus on this type? Because of a brave young lady by the name of Zara Hartshorn.  Zara Hartshorn, rests among a minute population of an estimated 1 in 10million worldwide to be diagnosed with this condition. Nonetheless, she had the courage to come out and share her experience with the rest of the world.

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Those suffering from CGL are born with an extreme or partial absence of body fat tissue (adipose).   It’s molecular genetics are the result of gene alteration and mutations. During childhood, those living with CGL have large appetites, accelerated growth in height, and advanced bone age. If you’ve ever seen the movie, The Curious Case of Benjamin Button, you learn that Benjamin Button is born appearing and feeling like an elderly man. The catch is, that while as the rest of the world continues to age, he is ‘growing’ younger.  Lipodystrophy is often referred to as “Reverse Benjamin Button Syndrome.” However, those living with Lipodystrophy do not grow to appear younger.

The lack of fat in those with Lipodystrophy causes a drop in multiple hormones, particularly leptin. Our bodies’ metabolic system needs the appropriate amount of body fat and hormones to regulate energy expenditure and produce chemicals/hormones to ensure that our body is functioning properly. Leptin is a hormone whose receptors are located within hypothalamus. They signal when the body is full or hungry and control how the body responds to insulin. As a result, those living with Lipodystrophy have a leptin deficiency, which leads to insulin resistance. Interestingly enough, obesity is characterized by increased body fat which also leads to insulin resistance.  In the picture below, lipid appears in white.  Note the absence of fat in those with generalized lipodystrophy. Consequently, research was conducted by initiating leptin infusion treatments in order to overcome insulin resistance.

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As for Zara Hartshorn, she is a young adolescent living with CGL, and who has been cast under the media’s spotlight. Below is a link you will find to an interview conducted by ABC. In this interview you might notice a few “interesting” ways in the manner of which they choose to portray her condition.

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References

Gabbay, R. Generalized Lipodystrophy. MedScape. Retrieved from: http://emedicine.medscape.com/article/128355-overview#showall

Garg,  A.  (2004).  Acquired and Inherited Lipodystrophies. New England Journal of Medicine, 350, 1220-        34. 

Iichiro, S., Hammer, R., Ikemoto, S. (1992). Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. Nature, 401, 73-76.

My Lipodystrophy is a site that presents current information on Lipodystrophy Syndrome. http://www.mylipodystrophy.com/About.aspx

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