My 15-year-old daughter was doing wonderfully until her physical activity increased and her menses became more debilitating. Starting in November 2008, my daughter has been admitted into the hospital for DKA, hepatitis (no known origin) and infection. Since that time, she has been plagued by stomach pain, nausea, vomiting and systemic edema. Just before her period, she gets nauseated, vomits and swells over her entire body and bleeds a hemorrhage-like volume for at least seven days. Her blood sugar has remained in the 60 to 160 mg/dl [3.3 to 8.9 mmol/L] range. Last Friday, March 5, my daughter started having the stomach pain, nausea and vomiting. She then started swelling and has been seen daily by a PCM since Monday. We were doing a 24-hour urine catch for a copper test. She had a urine output of less than 300. She was catheterized Monday to see what was going on. Her laboratory tests showed only slightly increased BUN and phosphate level. She has been given Lasix hopefully reduce some of the swelling, hopefully. So far, it does not seem to be working.

Her current pediatric endocrinologist was seeing her every three months but now only sees her every six months. On her last visit to him, I sent him a detailed letter with various laboratory results asking him to please check her heavy metals but he refused and blames her. He refuses to give her a pump and says she is noncompliant. She now has an A1c of 14.1. CT conclusions: No evidence of renal calculi or hydronephrosis; abnormally dense liver as previously described – The differential diagnosis for this finding is as previously described and includes hemochromatosis, hemosiderosis, iron overload, Wilson’s disease, and glycogen storage disease. Clinical and laboratory correlation are recommended.

Have you seen this before? Do the symptoms make any sense? I desperately need some guidance here. Her current pediatric endocrinologist is the only one in this area. I am trying to find a new doctor in Florida as we are closer to there than to any other area, and that will accept Humana. I am not asking you for anything other than some kind of clue to help diagnosis her and maybe the name of a doctor. Any assistance, advice, hints, anything you can provide me with would be greatly appreciated.

This sounds very odd and does not make much sense from what you have reported. It is extremely difficult to get such a high A1c if insulin is actually being taken, so I suspect this is the source of the noncompliance diagnosis. Usually, this involves some fairly intense emotional or psychosocial problems, sometimes physical or sexual abuse as the underlying causation. When we have such suspicions, the absolute best way to solve the problem is either hospital admission with round-the-clock staff supervision or, at home, to have 100% of all insulin injections given by parents and 100% of all blood glucose testing also done by parents. This solves the problem if omitted insulin is the issue but not all parents can cooperate and sustain such efforts. Unfortunately, sometimes the psychological problems are more related to the parents than the child/teen. Then, hospitalization with direct staff supervision is needed. Using continuous glucose monitoring would also be very interesting to better define what is going on vis-a-vis diabetes and there are several Continuous Glucose Sensors you should be able to get through your diabetes team.

An unusual presentation of something like celiac disease and thyroid disease occasionally can present like this but should be easy to rule out with some simple tests if not already done. Eating disorders, anorexia nervosa, bulimia and what we call “diabulimia” can also present in this fashion but some detailed history and questioning should figure out whether or not these are considerations. Such psychological problems often are intertwined with omitted insulin.

However, this does not at all explain the severe menstrual bleeding, but may explain the edema. You need a good pediatric endocrinologist working with a pediatric/adolescent gynecologist to work out what is occurring, consider ultrasonography, pelvic examination, hormone levels, etc. Such severe bleeding is not at all related to the diabetes, even if there is missing insulin or noncompliance.

The most common explanation for the liver problem would just be fatty liver from omitted insulin that goes along with the extremely high A1c. One such version is called Mauriac Syndrome. The high A1c suggests this as the #1 possibility to explain both the liver and diabetes issues together. Specific blood tests of liver function are needed if not already done. Tests for liver infections would be very helpful. A liver biopsy will probably be needed since this would likely clinch the diagnosis. Once again, good diagnostic acumen and a systematic, thorough approach should figure this out perhaps with close consultation with adolescent gastroenterologists. If everything only shows fatty liver, we are back to omitted insulin as the likely explanation and this problem will be solved with adults strictly supervising all insulin doses and blood glucose testing.

There are excellent pediatric diabetes people in Tallahassee as well as Gainesville and Atlanta for a second opinion.

SB