February 10, 2006
LADA and MODY
Question from Succasunna, New Jersey, USA:
I am a 38 year old mother of five, widowed in 1999. My first husband was a diabetic and died due to complications of the disease. I don’t remember how I first learned about MODY, but I remember hearing about it a couple of years after my husband died. After learning more about it, I became convinced that was the type of diabetes that he had.
I have four children by my late husband. Two years ago, my third child was diagnosed with Lyme disease. When they had his blood tested for Lyme disease, they said that his sugar was “slightly” high. Because of his father’s history, they had him see an endocrinologist. After explaining my late husband’s history, the doctor had my son tested for MODY. He tested positive for MODY-3. I then had my other three other children tested and they were negative.
My son is currently 13 years old and in the first few stages of puberty. I am talking to him about diabetes, educating him about diabetes and encouraging him to take care of it. At this time, his sugars run about one point above normal or normal.
My late husband was a fifth generation diabetic that did not survive past the age of 35. In fact, he died on his 35th birthday. My late husband fell very ill at the age of 16. He was hospitalized for over a year and they believed he was diabetic but they were all surprised when they kept giving him insulin and he did not get better. At the age of 17, they did exploratory surgery and removed a tumor from his adrenal gland. After this, there was no mention of diabetes. At the age of 24, he went in to take his commercial driver’s physical and his sugars were extremely high. He was officially diagnosed as a type 2 diabetic. They informed him that he had to have had diabetes for quite some time because his eyes were already being affected. He did NOT have increased thirst and he did not have frequent urination. He was not overweight, did not drink, was very active and did not smoke. He had difficulties maintaining his diet and he wasn’t always “compliant” as the nurses would say. They would try him on pills for awhile and they tried him on insulin for awhile. But, he would often get hypoglycemia and he hated that balancing act.
Five years after his initial diagnosis, he began to have problems with his eyes. He had multiple surgeries on his eyes and was informed that he would be facing dialysis. Three years later, he was put on dialysis. He was on dialysis for three years and died of a heart attack due to fluid overload. Obviously, his form of diabetes was progressive and aggressive.
I am writing to you because I have never heard of type 2 diabetes being so aggressive and I know MODY is still not completely understood. I am just wondering if you or any of your colleagues know any more about MODY. What should I expect? Are there any ongoing studies? I became very educated about diabetes during this time with my husband. I see that my son checks his sugar and watches his diet. He does not yet have “full blown” diabetes and I really don’t expect that for another three years. I am scared to death that he will be a sixth generation to not make it past his 35th birthday. Have you ever heard of diabetes (MODY) being so aggressive?
Of course, I share all this with my son’s doctors, but I would love to read any articles or more information that you may have regarding MODY. Yes, I have heard “progressive” applied to this type, but in my experience it was “aggressive” with no margin for error.
Answer:
First of all, I am sorry to hear of all the trouble your family has had.
Secondly, I am going to suggest an unlikely diagnosis, but one, perhaps, you should rule out that has nothing to do with MODY (I don’t know how accurate the MODY testing is, whether there are false positives). If your husband had a tumor on his adrenal gland, perhaps pheochromocytoma should be ruled out. This is a familial tumor (usually benign, but occasionally malignant) that can occur on the adrenal gland (and other places) and produces excessive epinephrine which can cause mildly high blood sugars. Usually, there is also hypertension, which is sometimes intermittent. There can be symptoms of flushing and palpitation which could be mistaken for low blood sugar. The hypertension can cause kidney damage and cardiac problems. Sometimes anaesthesia can produce dangerously high hypertension. This tumor can be familial just like MODY (either occurring alone or with other syndromes).
Pheochromocytoma is usually diagnosed with urine tests for abnormally high hormones (catecholamines such as epinephrine, norepinephrine, VMA, metanephrine and sometimes others). Plasma renin, a hormone made by the adrenal gland is often high, but this is not usually a diagnostic test. Sometimes potassium is low.
Even more rare is a disease called glucocorticoid remediable hypertension which can also cause severe hypertension, is familial, but does not usually cause diabetes. I have seen a family that had benign adrenal tumors with this syndrome which is not usually considered part of this syndrome. As I said, this is even more rare than pheochromocytoma and doesn’t usually cause high blood sugars. The hallmark of glucorticoid remediable hypertension is undetectable plasma renin. Potassium is usually low, but sometimes normal.
These diagnoses are unlikely, but I would still discuss them with your child’s physician as adrenal tumors are not usually considered part of MODY as far as I know.
TGL
Additional comments from Dr. Linda DiMeglio:
I would recommend consulting with a pediatric diabetologist in your area. Your husband’s history is suspicious for a form of MODY. The specialist can help by doing genetic testing, if warranted, and by monitoring your son to see if he is developing diabetes. Fortunately, our understanding of the genetics and proper therapy for the various forms of MODY are progressing rapidly, so, even if your son has the same type of diabetes as your first husband, he need not have the same medical outcome.
LAD
