Ask the Mito Doc April 2023
Endocrine Complications of Mitochondrial Disease
Clinician: Shana McCormack, MD, MTR, Children’s Hospital of Philadelphia
Watch the video: https://youtu.be/L-ck5ddfky4
Q: Do any of the following supplements help to regulate violent swings in blood sugar, NAC, Ubiquinol, Glutamine, or Folic Acid? And, in what dosages?
A: Shana McCormack, MD, MTR: For example, in Dr. Scaglia’s Citrulline study, I’m really curious what citrulline will do to blood sugar. So we’ve actually asked him to look in to the folks he studies who have diabetes. Arginine is used to stimulate insulin secretion in research settings. So we know arginine may have a blood sugar, modulatory effect. So those are 2 supplements that I can think of that may have effects. But the short answer to the question is that there’s none that we prescribe, because we think it’s going to help. But indirectly we’re learning about it. If some supplements make you feel better, and you exercise more, or you eat better, that could have indirect effects for sure.
Q: Are there specific foods and nutrients that will raise endocrine levels?
A: Shana McCormack, MD, MTR: Wow! What a great and complicated question. I think that depends on the person and what they’re doing. In general, unless someone’s about to exercise, or if their blood sugar is low, many of our patients find that simple carbohydrates by themselves, like simple sugars can sometimes cause the blood sugar to go up and sometimes back down again. So if you need that, because your blood sugar is low or you’re about to exercise, and you need something simple and easy to digest, than we sometimes say, maybe pairing simple carbohydrates with some protein or fat to prevent those patterns. But we know from research everybody’s body responds a little differently to nutrition. So maybe something worth learning about yourself. How different foods affect your blood sugars.
Q: As an adult, it has been harder to find an endocrinologist unless you already have a documented endocrine disorder, even when you yo-yo from high to low with endocrine hormones. Do you have any suggestions?
A: Shana McCormack, MD, MTR: Well, I’m kind of lucky because I work with the Mito program at Children’s Hospital of Philadelphia. And so they would refer me usually, but I have to say, if you go to Mito doctor they can help say, you know, based on your genetic disease, or based on some of these symptoms, if that referral comes from them that can often be really helpful. So primary doctor may be one, but to my mind the doctor is the best if you’re lucky enough to have a care team that can refer you or help formulate the specific questions that you want endocrine to answer, because sometimes we get, is growth hormone appropriate for this individual? Or does this individual need a DEXA scan for low bone density, sometimes helping to distill the question, because when the primary doctor has to fill out a referral, she has to write what is it for and if she has help doing that then it can be really useful.
Q: I find it extremely difficult to manage my diabetes – I do the same thing (eat same food and same insulin) but it fluctuates so much. Any suggestions?
A: Shana McCormack, MD, MTR: I think that depends on the person and what they’re doing. In general, unless someone’s about to exercise, or if their blood sugar is low, many of our patients find that simple carbohydrates by themselves, like simple sugars can sometimes cause the blood sugar to go up and sometimes back down again. So if you need that, because your blood sugar is low or you’re about to exercise, and you need something simple and easy to digest, than we sometimes say, maybe pairing simple carbohydrates with some protein or fat to to prevent those patterns. But we know from research everybody’s body responds a little differently to nutrition. So maybe something worth learning about yourself. How different foods affect your blood sugars.
Q: Can you explain what elevated albumin is indicating? I’m a 60 year old MELAS patient with diabetes in remission thanks to Ozempic but now everyone is concerned about the kidneys. The thought is it may be mito related?
A: Shana McCormack, MD, MTR: SGLT2 s maybe more, but I mean I’m without knowing the detail of what the kidney concern has been. Sometimes folks on GLPs will not be thirsty, and so maybe they will not be able to stay as hydrated, especially also if they have upset stomach, or if more fluid in their stomach, might make them feel fuller. So I wonder if that’s what’s happening in the person. It’s not when we typically think of outside dehydration or like subclinical dehydration.
Q: Are there common causes of bone pain in patients with mitochondrial disease- or is it not common?
A: Shana McCormack, MD, MTR: As an endocrinologist, I think probably just about any endocrinopathy, if it were profound, would I mean, I think a vitamin D deficiency can make people usually have muscle weakness, but I mean lots of causes for muscle weakness. Just I think a bone pain. I’m like oh, it’s there, and it’s called fracture. But I’m imagining your question means kind of like head to toe, like systemic, you know pain, and I don’t think there’s one deficiency more than another that, like kind of produces that I would, with maybe, with the exception of like, there’s really profound fatigue with and discomfort with abnormal calcium levels. But again, people are so different they may experience discomfort, for all those different, for all different reasons.
Q: Will you be discussing any mitochondrial disease with Hashimoto’s disease tonight?
A: Shana McCormack, MD, MTR: The challenge with detecting an association with Mito, broadly is that Hashimoto’s is really common in the general population, too. So when we try to say it’s like, is it more common, I suspect, in some subtypes that auto immune as Hashimoto’s is when there’s autoimmune activity against the thyroid. The challenge can be that you sometimes have the evidence of the autoimmunity, meaning the immune system got activated against the thyroid. But the thyroid function may or may not be compromised, and people how do people feel? Do we decide to treat that with our hormone or not, can be kind of a what’s the threshold to treat? That can be a complicated question. Usually the question is, do we treat or not and that requires blood measurements, and often an evaluation.
Q: I thought Metformin had been cleared to take for mito diabetes and even found beneficial?
A: Shana McCormack, MD, MTR: Metformin first, metformin used to be first line for individuals with diabetes like type 2 Phenotype related to excess weight, and insulin resistance. Once you decide someone does not need insulin right away, one of the side effects of metformin can be lactic acidosis, particularly in the setting of dehydration. Someone with a personal history of lactic acidosis, which many of your audience members may have like metformin, and we consider an absolute contraindication. Most folks will try to avoid metformin in people with mitochondrial disorders, because you don’t want the first time, they show they have lactic acidosis to be, you know, in the setting of metformin. It used to be that there weren’t a lot of non-insulin alternatives to try first. But now there are. So Ozempic is one of them. Ozempic is a member of a family of medicines called Glucagon, like Peptide receptor agonists, and we abbreviate that GLP1 receptor agonists one, Rybelsus is a semaglutide is available orally, but there’s a whole family of subcutaneous injections, like meaning a little shot daily or weekly dose are most appropriate for individuals who also want to lose weight. So, people who are normal weight or don’t want to lose weight or can’t lose weight, that’s not appropriate. So if we think excess weight is contributing, then that might be medicine to consider, it can produce nausea and a kind of easy fullness. So GI symptoms are things that folks with mitochondrial disease may already experience. So that’s something to be aware of especially in the titration time. Metformin does that, too. By the way, GLPs can also cause pancreatitis, so folks may be vulnerable already. And I know my colleagues do screen for pancreatic enzymes before even starting because some folks with Mitochondrial disease have subclinical pancreatitis. Then we tend to be thoughtful about it. Everyone has a titration upward plan, and if we do use it in some folks with Mito GI issues or weight wise like for where that might be safer, appropriate for them to try we would start at a very low dose, and not usually titrate as quickly as up as we might in someone without a mitochondrial disease, and some, and we often follow pancreatic enzymes too, so you can tell, lots of discussion. The other type of class, that you haven’t asked about but it’s important is SGLT2 inhibitors. Dapagliflozin, Canagliflozin , Empagliflozin . This is really a game changer because folks with cardiomyopathy, heart failure, can also really be helped by those. Side effects area consideration here, too, because you can develop ketones more easily. So we monitor ketones before we consider starting that medicine. Also it increases the amount of sugar in the urine. So people can have more urinary tract infections or fungal infections, so that history is important. So knowing those are the 2 other classes, the SGL and the GLP ones that are really terrific for the people for whom they are appropriate. But you had to start screening and monitor very closely as they’re being given to see if someone’s a good fit.
Q: My son has adrenal insufficiency. He never feels good and always tired. He was never tested to see which steroid to be put on. He is overeating from steroids and I don’t want diabetes. He was diagnosed when his growth hormone was being tested. Is there anything to do about being tired, should I ask the doctor about being tested for a specific steroid?
A: Shana McCormack, MD, MTR: In the ICU, for example, if someone’s critically ill. We often just give steroids because they’re so sick that we can’t think about the testing. But otherwise, before committing people to steroids which have side effects, it’s important to test and make sure we know they need them and what kind do they need?
Q: What test to diagnosis growth hormone deficiency in adults? I have 4 mito kids (I didn’t know I had it) and the child that had growth hormones benefited by getting muscle mass. Can mito patients have growth hormone for gaining muscle mass?
A: Shana McCormack, MD, MTR: Monitoring a bone, a X-ray of the hand and some growth factors, and other blood tests are usually the first step. There is more sophisticated provocative testing meaning like where we give a medicine, and we see what’s the growth hormone response? That’s more involved. But often it’s helpful to really get clarity about whether or not that’s the answer.
Q: Is there a certain time of day that’s best to test for ketones?
A: Shana McCormack, MD, MTR: Well, it depends on why you’re testing for ketones, right? So if someone has high blood sugar and you’re concerned about risk for diabetic keto acidosis, you test whenever the high blood sugar is there, right? So if you’re testing for ketones in the context of a hypoglycemia evaluation, then you might check for ketones after the longest time without eating, for most people that would be in the morning after not eating overnight. But people have all sorts of different eating habits.
Q: What were the 2 tests with blood disorders?
A: Shana McCormack, MD, MTR: Besides Hemoglobin A1C, there are two tests we use at CHOP. 2 fructoseamine and glycated albumen. But I think the point is, if you don’t have normal hemoglobin or normal red cells. Those are 2 tests. There are others, but those are those are 2 that we often use to test for chronically high blood sugar.