The many faces of lipodystrophy: Part 1

I saw three patients recently. One was an established patient, the second was her mother and the third was a new consult that was unrelated to the other two.

The first patient I had seen earlier for type 2 diabetes and mixed dyslipidemia. When she originally requested to come see me, her primary care physician said, "I’m not sure what an endocrinologist will do for you that I can’t." However, he did not try to dissuade her any further and obliged her request.

As soon as I met her, I was struck by her physical appearance. She had loss of adipose tissue in her arms, legs and trunk, giving an appearance of increased muscularity. She had a round, full face and markedly increased fat accumulation under her chin and supraclavicular area. No one had ever mentioned how unique her appearance was. Her mother accompanied her to that initial visit and had a similar, although somewhat more subtle, body habitus.

I was surprised to have found something so rare; I brought one of our other endocrinologists into the exam room so he could see her, too (with her permission of course). Testing for cortisol excess was normal, as I expected it would be.

I have a number of patients with lipodystrophy related to antiretroviral therapy for HIV. However, lipodystrophy not related to HIV is uncommon. There are several types, including congenital generalized lipodystrophy, acquired generalized lipodystrophy, familial partial lipodystrophy, acquired partial lipodystrophy, mandibuloacral dysplasia and other forms. All are rare.

The diagnosis of this patient and her mother was familial partial lipodystrophy type 2, also known as Dunnigan’s syndrome. This form of lipodystrophy is usually inherited as an X-linked dominant trait, but autosomal dominant inheritance has also been reported. The cause is thought to be mutation in the LMNA gene. In addition to changes in subcutaneous adipose distribution described above that usually begin at puberty, familial partial lipodystrophy type 2 is associated with insulin resistance and type 2 diabetes. It is very rare, occurring in about one in 15 million people.

Later the same week, another patient arrived to see me in consultation for "possible lipodystrophy." Before entering the room, my nurse brought in her background information and history to review. Within these materials were two articles about lipodystrophy which the patient had printed out for me to read.

When I saw those articles, I must be honest, my first thought was either she has self-diagnosed herself with something she does not have or she actually has the diagnosis and has been frustrated after seeing too many health care professionals who did not know what lipodystrophy was.

What are the chances of me seeing three cases of lipodystrophy not related to HIV in the same week, I asked myself? Unlikely, I thought.

To be continued…