Advances in the Diagnosis and Management of Rare Disorders - Episode 5
The panel continues its discussion by looking at several therapies used to treat patients with lipodystrophy.
Elaine Cochran, MSN, CRNP, says metformin is an option and that when it is “started very slowly in children or even adults, it’s a very well tolerated medication and it really helps bring down this extreme insulin resistance.”
Cochran says she has also used concentrated insulin (also known as U-500 insulin) because, “Many of the typical forms of insulin just aren’t potent or strong enough for this degree of insulin resistance. And these patients have very little body fat, so they really can’t tolerate large injections and volumes of insulin.”
More recently, Cochran says she has been working with leptin hormone replacement therapy.
“Just like how insulin in type 1 diabetes is a very important medication, here is another endocrine condition where we have a deficient hormone state and we were able to show that by replacing that hormone that they lack, as leptin is only made in fat tissue, we were able to really ameliorate a lot of these metabolic complications that patients were having,” she notes.
Later in the discussion, Susan Winter, MD, FAAP, FFACMG, says the development of new drugs has helped across a broad spectrum of issues.
“The development of a drug for a rare disorder often spins off new applications for those drugs,” she says. “The people who you would not have expected would benefit from it, and so this is very important for pharmaceutical companies to realize that their reluctance may be to look at a rare disease. And when they see the fact that they may be able to help a larger population, financially that’s more beneficial to them.”
As the discussion turns to patients’ diets with the therapy options, Winter says dieticians play a key role in helping patients.
“For this disease and many rare diseases, it’s not just the doctor, not just the nurse practitioner, but the combination of all the members of the team that play a health role,” she says.
Looking at her own practice, Winter says, “My dietitian with metabolic diseases, lipodystrophies, and others plays a critical role in the health of my patients.” She adds, “And without her, I would not be able to achieve, in our clinic, what we’ve been able to do in keeping kids healthy and preventing further complications.”