Sharon Halperin, Research Director for Lipodystrophy United and patient, discusses her diagnostic journey with lipodystrophy.
Lipodystrophies are rare metabolic disorders characterized by the loss of adipose tissue. This leads to complications such as insulin resistance, diabetes mellitus, hypertriglyceridemia, and fatty liver. Lipodystrophies generally begin in childhood and have an underlying autoimmunity. The disorder can be genetic or acquired. Symptoms that may indicate a should be evaluated for lipodystrophy include thin arms and legs, prominent muscular veins, cutaneous fat around abdomen, and difficult to treat diabetes. Current management of patients includes cosmetic surgery, diet, and drug therapy for control of diabetes and dyslipidemia. Leptin replacement therapy is the only lipodystrophy-specific treatment.
Ms. Halperin shares her diagnostic journey, starting with signs and symptoms of insulin resistance and lipodystrophy at 6 years old. While searching for a diagnosis, she went to 11 different endocrinologists who all tested her for Cushing’s, each test coming back normal. She was diagnosed with type 2 diabetes at 28 years old which accelerated her path to a lipodystrophy diagnosis. A year and a half ago while searching for an endocrinologist to write up her diagnostic history for disability, a doctor conducted a physical examination and finally gave a diagnosis of lipodystrophy.
Ms. Halperin wants physicians to know that patients are compliant and treatment and trying their best, even when it may not seem like it. She highlights the multisystemic nature of the disease as a challenge to adequately managing the disease. She also wants doctors to understand the high burden of disease on patients and how their symptoms affect their daily life and mental health. While testing for metabolic function and other disease components is important, mental health check ins and asking about how symptoms are making patients feel are essential as well.
Finally, Ms, Halperin advises patients who have been newly diagnosed with lipodystrophy to find community. Networking with patients who have been through similar experiences and can help patients cope with their diagnosis and treatment. Additionally, she stresses the importance of education, noting that the more knowledge one has on the disease, the easier it is to manage.
To learn more about lipodystrophy and other rare metabolic disorders, visit https://checkrare.com/diseases/metabolic-disorders/