SUN-691 Type 2 Diabetes Management in the Context of Smith-Magenis Syndrome: Case Report

Background: Smith-Magenis syndrome (SMS) is a rare condition caused by microdeletion chromosome 17p11.2 via RAI1 gene mutations, causing disrupted circadian sleep-wake patterns. Characteristic behaviors include: sleep disturbance, anxiety, maladaptive habits with self-injury (biting, picking, self-hugging, page-flipping) and outbursts. Characteristic features include: craniofacial abnormalities, short stature, 2/3 toe syndactyly, scoliosis, cardiac and genitourinary defects, hypotonia, peripheral neuropathy, epilepsy, childhood-onset truncal obesity, toileting difficulties. Management of adults with SMS span multiple disciplines: otolaryngology, audiology, ophthalmology, assessments of scoliosis, seizures, familial psychosocial health, sleep and behavioral changes with each medication. Annual assessments include: fasting lipids, thyroid panel, screening urinalysis. Patients should receive standard treatment for comorbid endocrine conditions, classically: hypercholesterolemia, hypothyroidism, growth hormone deficiency. Clinical Case: 49-year-old Hispanic female with history of SMS who presented to endocrinology for type 2 diabetes mellitus (T2DM) management. Past medical history includes T2DM with peripheral neuropathy, hypertension, hypercholesterolemia, intellectual disability, anxiety, recurrent genitourinary infections, sleep apnea. Physical exam is remarkable for macroglossia, truncal obesity, scoliosis, extremity excoriations evident of skin picking and xerosis, syndactyly of 2nd-3rd toes. Patient exhibited maladaptive behaviors like page-flipping, self-hugging, tantrums. Over the past 3 years, BMI remained in the obese range (>30 kg/m2) and A1c fluctuated from 7.0 to 10.6% averaging 8.8% (<5.7%). Patient is currently managed on insulin glargine, pioglitazone and liraglutide. She did not tolerate metformin due to dose-dependent diarrhea. Patient’s mother chose against SGLT2 inhibitors due to diminished genitourinary hygiene. T2DM management was complicated by patient behaviors, including nocturnal consumption of fructose-containing food and beverages, exercise intolerance, and associated caregiver fatigue. Conclusion: This case describes a patient managed for metabolic dysfunction in conjunction with a rare microdeletion disorder causing neurobehavioral disturbance with disrupted circadian sleep-wake patterns. The most difficult aspects of diabetes management included difficulty implementing lifestyle modifications to control the patient’s hyperglycemia.

SAT-617 Potential Utility of the Mixed Meal Test for Differential Diagnosis of Partial Lipodystrophy from Common Type 2 Diabetes and Truncal Obesity

Background: Better clinical tools are needed to improve the differential diagnosis of partial lipodystrophy (PL) from type 2 diabetes (DM) with truncal obesity. Here, we investigated differences in metabolic parameters during a mixed meal test in PL and DM patients to determine if this test may have a role in this regard. Methods: We retrospectively evaluated data collected from 17 PL patients (4M/13F, ages 12-64) and 20 DM patients (13F/7M, ages 24-72) with truncal obesity, who also had nonalcoholic fatty liver disease. All patients underwent a Mixed Meal Test (MMT) with 474 ml of Optifast (320 kcal, 50% carbs, 15% fat, and 35% protein). Blood was collected before and at 30, 60, 90, 120, and 180 minutes post-meal to measure glucose, insulin, free fatty acids (FFA), triglycerides, inflammatory markers, GIP, GLP-1, PYY, and Ghrelin. All samples of the same cohort were run at the same time in duplicates and results were averaged. Mixed linear models were constructed to compare PL and DM cohorts taking into account within-subject effects. Data were controlled for BMI, sex and age, and glucose when necessary. Results: Patients with PL had higher glucose and triglyceride levels throughout the MMT at all-time points (p < 0.05). While the glucose levels showed an increase and subsequent decrease, the triglyceride levels remained flat throughout the test in both groups. Free fatty acid levels were suppressed compared to baseline during the test, but PL patients had significantly higher FFA from time 30 to time 180 (p < 0.05) and tended to suppress less. While controlling for the differences in glucose levels, GIP levels displayed a large peak at time 30 min in both groups but were significantly higher over the course of the test in the PL group (AUC: 32542, pg/mL x min (20528-57728) vs. 3343 pg/mL x min (1728-4498), p < 0.05). In contrast, GLP-1 levels (also peaking at time 30 min in both groups), were significantly lower in PL throughout the test (AUC: 3017 pg/mL x min (2309-6051) vs. 28387 pg/mL x min (20422-36045), p < 0.05). Ghrelin and PPY levels did not differ significantly between the two groups. Interpretation/Conclusion: PL patients displayed more profound hyperglycemia and impaired suppression of FFAs. Interestingly, PL patients did not show substantial increases in triglyceride levels during MMT. There was a striking difference in the incretin responses between the two populations despite controlling for glucose, suggesting that MMT may have a role in differential diagnosis PL. Also, altered incretin response should be investigated as a contributor to metabolic perturbations and pathophysiology of PL.

Laurence Moon Bardet Biedle Syndrome

Laurence Moon Bardet Biedle syndrome is a rare, autosomal recessive genetic disorder involving multiple systems and has wide spectrum of clinical features. Characteristic features of this disorder are retinitis pigmentosa, polydactyly, truncal obesity and learning difficulties. It may also be associated with hypogonadism in male and complex genitourinary abnormalities in female. We present a case of 33 years male patient having obesity, decreased vision, polydactyly, hypogonadism and retinitis pigmentosa. These clinical features are consistent with Laurence Moon Bardet Biedle syndrome.Medicine Today 2018 Vol.30(1): 41-43

Prevalence and its risk factors of diabetic patients in urban area of Palakkad: an observational study

Background: Diabetes mellitus (DM) is emerging as a major health-care challenge for India. The worldwide prevalence of DM has risen dramatically in the developing countries over the past two decades. Most studies from western countries and urban studies of India point out that lifestyle changes, sedentary life, diet and related epidemiological transition as major risk factors in the development of DM. Methods: It was a cross sectional observational study done in urban area covered under urban primary health Centre (UPHC) of Govt. Medical College, Palakkad. Adults more than 30 years of age in urban area were included and observation period was from 2016-2017. Results: The overall prevalence of diabetes mellitus in the present study was found to be 268 (65.68%). In this 135 (50.37%) were the age group is 50-59 years and almost half 80 (29.85%) were diagnosed at the age of 40-49 years. Similarly, the risk factors such as age, occupation, diet, smoking, alcohol, truncal obesity and family history were significantly associated with prevalence of T2DM whereas alcohol and hypertension were not. Conclusions: The result of the present study proves that prevalence of T2DM was influenced by many risk factors like age, diet, dyslipidaemia, truncal obesity and family history consider more important in the urban studies.

Bardet Biedl syndrome - report of a very rare case

Bardet Biedl Syndrome is a autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations of the syndrome are Post axial polydactyly, Retinitis Pigmentosa, truncal obesity, hypogonadism & renal dysfunction. The authors report a case of Bardet Biedl Syndrome in a young girl diagnosed on the basis of post axial polydactyly, retinitis pigmentosa and other systemic features. Postaxial polydactyly is one of the earliest and most common manifestation of Bardet Biedl syndrome, followed by truncal obesity and retinitis pigmentosa. Renal failure is the major cause of morbidity and mortality. The importance of polydactyly lies in the fact that, such finding can be helpful in antenatal diagnosis to see its inheritance, counseling of such families and at times may be treated by surgical correction.