Maturity Onset Diabetes of the Young Masquerading as New Onset Diabetes Mellitus Type 1

Introduction:/background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic disorders with autosomal dominant mode of inheritance. Mutation in hepatocyte nuclear factor-1β (HNF-1β) gene results in an error of embryonic development of pancreas and nephron, leading to MODY type 5. MODY 5 accounts for 1% of maturity-onset diabetes of the young. It has peak incidence in adolescence/early adulthood, and is associated with renal pathology. Clinical Case: A 15-year boy with history of hypertension and Hashimoto thyroiditis with normal thyroid function was referred for Hb A1C of 6.7% (< 6.4%). Physical exam was remarkable for normal weight at 64%, normal BMI at 83%, absence of thyromegaly or acanthosis nigricans. Diabetes was confirmed by 2 hour Oral Glucose Tolerance Test study (baseline glucose 154 mg/dL (<126 mg/dL), 2 hour glucose 384 mg/dL (<140 mg/dL)). Small doses of insulin (total daily dose 0.1 units/kg/day) resulted in good glucose control. Further labs were significant for weakly positive TTG and GAD antibodies (tTG Ab IgA 55.5 U/mL (<4.0 U/mL), GAD-65 Ab 0.05 nmol/L (< 0.02 nmol/L)), positive TPO (0.0 - 34.9 IU/mL) and detectable ATA antibodies 45.8 IU/mL (0.0 - 40.0 IU/mL), C-peptide 2.9 ng/mL (0.9–7.1 ng/mL). Islet cell, Insulin and Zinc transporter 8 antibodies were negative. Over the next few months he was weaned off insulin and subsequently he had a high insulin of 29.43 uU/mL (3.0 - 17.0 uU/mL) with glucose level of 169 mg/dL. Renal US was performed as part of the work up for hypertension and revealed a small right calculus with no hydronephrosis and a small 8-mm cortical cyst in the right kidney. Urinalysis showed microalbuminuria. Upper GI endoscopy and colonoscopy with biopsy ruled out celiac disease. Presumptive diagnosis of MODY was entertained despite positive TPO, ATA, TTG and GAD antibodies suggesting autoimmune endocrinopathies. His Hb A1C levels were in the range of 5.7 to 6 % during the 15 months of follow up. Genetic testing for MODY resulted in heterozygous deletion of exons 1–9 of the HNF1B gene consistent with MODY5. Conclusion: This is a case of MODY 5 with weakly positive GAD 65 antibodies that was initially misdiagnosed as type 1 diabetes. The presence of weakly positive antibodies should not preclude a work up for MODY in a patient who does not have the clinical features of classic type 1 DM.

Toward Understanding Social Needs Among Primary Care Patients With Uncontrolled Diabetes

Introduction/Objectives: Uncontrolled diabetes can lead to major health complications, and significantly contributes to diabetes-related morbidity, mortality, and healthcare costs. Few studies have examined the relationship between unmet social needs and diabetes control among predominantly Black and Hispanic patient populations. Methods: In a large urban hospital system in the Bronx, NY, 5846 unique patients with diabetes seen at a primary care visit between April 2018 and December 2019 completed a social needs screener. Measures included diabetes control (categorized as Hemoglobin (Hb) A1c <9.0 as controlled and Hb A1C ≥9.0 as uncontrolled), social needs (10-item screen), and demographic covariates, including age, sex, race/ethnicity, insurance status, percentage of block-group poverty, patient’s preferred language, and the Elixhauser Comorbidity Index. Results: Twenty-two percent (22%) of the patient sample had at least 1 unmet social need, and the most prevalent unmet social needs were housing issues (including housing quality and insecurity), food insecurity, and lack of healthcare transportation. Logistic regression analysis showed a significant relationship between social needs and uncontrolled diabetes, with more social needs indicating a greater likelihood of uncontrolled diabetes (Adjusted Odds Ratio (AOR) for ≥3 needs: 1.59, 95% CI: 1.26, 2.00). Of the patients with most frequently occurring unmet social needs, lack of healthcare transportation (AOR: 1.54, 95% CI: 1.22, 1.95) and food insecurity (AOR: 1.50, 95% CI: 1.19, 1.89) had the greatest likelihood of having uncontrolled diabetes, after adjusting for covariates. Conclusion: Unmet social needs appear to be linked to a greater likelihood of uncontrolled diabetes. Implications for healthcare systems to screen and address social needs for patients with diabetes are discussed.

Indeks Massa Tubuh dengan Kadar Hb-A1c pada Pasien Diabetes Melitus Tipe II

Latar Belakang :Berat badan berlebih adalah keadaan yang hampir mendekati obesitas, di mana seseorang dapat dinyatakan berat badan berlebih apabila orang tersebut memiliki IMT ≥ 23. Timbunan lemak yang berlebihan di dalam tubuh penderita berat badan berlebih atau obesitas dapat mengakibatkan resistensi insulin yang berpengaruh terhadap kadar gula darah dan mempunyai risiko 1,71 kali terkena diabetes melitus. Tanpa adanya penurunan berat badan dan modifikasi gaya hidup, orang dengan sindrom metabolik memiliki resiko bermakna untuk menjadi diabetes melitus tipe 2.Tujuan penelitian : Untuk mengetahui hubungan antara indeks massa tubuh dengan kadar Hb-A1c pada pasien FKTP diabetes melitus tipe 2 di praktik mandiri dokter K. Hakikiyah Lampung Tengah. Metode penelitian :Penelitian ini adalah analitik dengan menggunakan Desain penelitian Cross Sectional, populasi adalah seluruh pasien FKTP diabetes melitus tipe 2 di praktik mandiri dokter K. Hakikiyah Lampung Tengah. Penarikan sampel menggunakan total sampling dengan jumlah sampel 56 orang. Analisa data yang dilakukan adalah univariat dan bivariat dengan uji spearman. Hasil :Distribusi frekuensi Indeks Massa Tubuh IMT terbanyak yaitu kategori berlebih sebanyak 30 orang (53,6 %). Distribusi frekuensi kadar Hb-A1c terbanyak yaitu kategori berlebih sebanyak 43 orang (76,8 %). Di ketahui ada hubungan antara Indeks Massa Tubuh (IMT) dengan kadar Hb-A1c pada pasien FKTP diabetes melitus tipe 2 di praktik mandiri dokter K. Hakikiyah Lampung Tengah dengan nilai p-value = 0,000, r = 0,600. Kesimpulan:Ada hubungan antara Indeks Massa Tubuh (IMT) dengan kadar Hb-A1c pada pasien FKTP diabetes melitus tipe 2 di praktik mandiri dokter K. Hakikiyah Lampung Tengah. Kata Kunci : Indeks Masa Tubuh, Kadar Hb-A1c, DMT2.

The Interaction between Hb A1C and Selected Genetic Factors in the African American Population in the USA

Background The global prevalence of diabetes mellitus has been growing in recent decades and the complications of longstanding type 2 diabetes continue to place a burden on healthcare systems. The hemoglobin A1c (Hb A1c) content of the blood is used to assess an individual’s degree of glycemic control averaged over 2 to 3 months. In the USA, diabetes is the seventh leading cause of death. , indigenous, people of color (BIPOC) are disproportionately affected by diabetes compared to non-Hispanic whites. There are many reports of interaction of Hb A1c and hematologic conditions that have a high prevalence in the Black population; some of these effects are contradictory and not easily explained. This review attempts to document and categorize these apparently disparate effects and to assess any clinical impact. Methods Hb A1C can be determined by a variety of techniques including cation-exchange chromatography, electrophoresis, immunoassays, and affinity chromatography. The amount of Hb A1c present in a patient specimen depends not only on blood glucose but is strongly influenced by erythrocyte survival and by structural variations in the globin chains. Sickling hemoglobinopathies are well-represented in the USA in African Americans and the effects of these hemoglobin disorders as well as G6PD deficiency is examined. Conclusion Hb A1c measurement should always be performed with a cautious approach. The laboratory scientist should be aware of possible pitfalls in unquestioningly determining Hb A1c without a consideration of hematologic factors, both inherited and acquired. This presents a challenge as often times, the laboratory is not aware of the patient’s race.

The Value of Laboratory Information Augmenting a Managed Care Organization’s Comprehensive Diabetes Care Efforts in New Mexico

Background The National Committee on Quality Assurance’s Healthcare Effectiveness Data and Information Set on Comprehensive Diabetes Care requires patients with diabetes obtain a hemoglobin A1c (Hb A1c) and urine albumin-to-creatinine ratio (ACR) test every year. To improve these measures, managed care organizations (MCOs) rely on claim and prescription data to identify members for care management. TriCore Reference Laboratories collaborated with Blue Cross Blue Shield of New Mexico (BCBSNM) to determine if laboratory information would augment BCBSNM’s diabetes care management services. Method In January 2018, BCBSNM provided its Medicaid enrollment file to TriCore for identifying members and determining their diabetes status by evaluating their recent Hb A1c results. Of the 6,138 members with diabetes, a random sample of 600 was extracted, and half were provided to BCBSNM to perform care management from January 18 to May 1, 2018. Completion of Hb A1c and ACR were measured. Results Significantly more (P = 0.03) study group members (25%) than control group members (18%) received an Hb A1c test. The study group (14%) also received more ACR tests than the control group (9%; P = 0.07). We then calculated the monetary penalty to which New Mexico Medicaid MCOs are subject, leading to the identification of additional value ($3,693,000) that clinical laboratories provide beyond the cost per test. Conclusion Clinical laboratories play a critical role in healthcare, and this article demonstrates an approach for laboratories to collaborate with MCOs in their care management efforts. In addition, we calculate the value of this novel collaboration, which may play an integral role in laboratories’ pursuit of value-based care.

Hemoglobin E: a potential interferent in measurement of glycated hemoglobin

Glycosylated hemoglobin (HbA1C) is a routinely measured parameter to monitor long term glycemic control in patients with diabetes mellitus. There are many potential interferents which can affect measurement of HbA1C by high performance liquid chromatography (HPLC). Variant hemoglobins, especially, are a common source of confusion and errors in HbA1C measurement. Authors present an interesting case of Hb E variant (undiagnosed hitherto) which came to attention when the machine repeatedly failed to give Hb A1C levels. Hb E is the commonest Hb variant in North East India. In the presence of Hb E, HbA1C may not be detected by ion exchange chromatography as both hemoglobin’s co- elute together, thereby causing errors. In such cases, the clinician may resort to subcutaneous sugar monitoring as an alternate or if required, Hb A1C measurement may be done by other techniques like immunoassay technique or boronated affinity chromatography. The laboratory staff and clinicians, both, should be aware of this limitation of HbA1C estimation in patients with HbE and other Hb variants.

Associations of Cardiac, Kidney, and Diabetes Biomarkers With Peripheral Neuropathy among Older Adults in the Atherosclerosis Risk in Communities (ARIC) Study

Background The aim of this study was to assess the association of high-sensitivity cardiac troponin (hs-cTnT) and other cardiac, kidney, hyperglycemia, and inflammatory biomarkers with peripheral neuropathy (PN) in a community-based population. Methods We conducted a cross-sectional analysis of 3056 black and white participants in the Atherosclerosis Risk in Communities (ARIC) study who underwent standardized monofilament PN testing and had measures of cardiac function (hs-cTnT, N-terminal pro–B-type natriuretic peptide [NT-proBNP], and growth differentiation factor 15 [GDF15]), kidney function (serum creatinine, cystatin C, β-2 microglobulin, urine albumin-to-creatinine ratio), hyperglycemia (fasting glucose, hemoglobin A1c [Hb A1c], fructosamine, glycated albumin, 1,5-anhydroglucitol), and inflammation (C-reactive protein) assessed at visit 6 (2016–2017; age 71–94 years). We used logistic regression to assess the associations of these biomarkers (modeled in diabetes-specific tertiles) with PN in older adults with and without diabetes after adjusting for traditional risk factors. Results In total, 33.5% of participants had PN (37.3% with diabetes and 31.9% without diabetes). There was an independent association of hs-cTnT with PN regardless of diabetes status (diabetes T3 vs. T1: odds ratio [OR], 2.15 [95% CI, 1.44–3.22]; no diabetes: OR, 2.31 [95%CI, 1.76–3.03]; P = 0.72 for interaction). Among participants without diabetes, there were also significant associations of NT-proBNP (OR, 1.40 [95% CI, 1.08–1.81]) and urine albumin-to-creatinine ratio (OR, 1.55 [95% CI, 1.22–1.97]) with PN. Associations of hyperglycemia biomarkers including Hb A1c (OR, 1.76 [95% CI, 1.22–2.54]), fructosamine (OR, 1.71 [95% CI, 1.19–2.46]), and glycated albumin (OR, 1.45 [95% CI, 1.03–2.03]) with PN were significant only among participants with diabetes. Conclusions Overall, hs-cTnT appears to be a global marker of end organ damage, including PN. Laboratory biomarkers may be able to help us identify those individuals with PN.