A Case of Acquired Generalized Lipodystrophy with Cerebellar Degeneration and Type 2 Diabetes Mellitus

Acquired generalized lipodystrophy (AGL) is a rare disorder of adipose tissue characterized by loss of fat from large regions of the body, occurring after birth. Its etiology remains unknown. Most AGL patients have had fasting and/or postprandial hyperinsulinemia, diabetes mellitus, hypertriglyceridemia, and fatty liver. We describe the case of a 30-year-old woman with a progressively unsteady gait and a generalized loss of body fat beginning at the age of 7. Cerebellar degeneration was revealed by imaging study, and the patient was eventually bedridden at the age of 15, due to progressive ataxia. She developed diabetes at the age of 25 without the presence of any evidence of ketoacidosis. The glutamic acid decarboxylase antibody was negative, C-peptide level 3.6 ng/ml, HbA1c 13%, triglyceride 412 mg/dl, total cholesterol 196 mg/dl, high-density lipoprotein-cholesterol 28 mg/dl, adiponectin 0.76 μg/ml, and resistin was 22.8 ng/ml at the initial state of diabetes. AGL accompanied by type 2 diabetes and cerebellar degeneration was diagnosed on the basis of the clinical features and metabolic derangements

The Association of Silent Coronary Artery Disease and Metabolic Syndrome in Chinese with Type 2 Diabetes Mellitus

OBJECTIVES: Cardiovascular diseases account for approximately 75% of the deaths that occur in patients with diabetes. Because the clinical signs of coronary artery disease (CAD) in diabetic patients are hard to detect and routine screening is costly, it would be of great benefit to try to either prevent CAD from occurring or to detect it early and provide optimal care. Therefore, we analyzed the risk factors that might predict CAD in type 2 diabetes mellitus (T2DM) patients with no classical cardiac ischemic symptoms. METHODS: Using a resting 12-lead ECG, exercise treadmill test, or thallium myocardial scintigraphy with exercise testing and dipyridamole injection, we screened diabetic patients already enrolled in a disease management program for possible CAD. We used diagnostic coronary angiography to confirm its presence. The definition and criteria of metabolic syndrome we used were modified from those outlined by the WHO classification and criteria of NCEP-ATP III. RESULTS: A total of 850 T2DM patients without clinical and electrocardiographic evidence of CAD were studied. Three hundred and sixty-eight asymptomatic patients with normal resting ECG were examined by exercise ECG test or thallium scintigraphy examination. Sixty patients considered to have a strong positive test or significant thallium myocardial ischemia received a diagnostic coronary angiography. Fifty-one were found to have significant coronary artery stenosis; 9 showed no significant ischemic lesion. While gender, patients' age, known diabetes duration, serum uric acid level, smoking status, and the presence of WHO-metabolic syndrome defined hypertension and nephropathy were associated with silent CAD, logistic regression analysis found that the only predictor of silent CAD was the presence of nephropathy. The components of NCEP-ATP III-metabolic syndrome were not found to be associated with silent CAD. CONCLUSIONS: A considerable proportion of T2DM patients have silent CAD. A diabetic patient with incipient or overt nephropathy should be examined for the presence of CAD. The definition of metabolic syndrome may be modified for early detection of CAD in patients with T2DM

ENPP1 K121Q Polymorphism is not Related to Type 2 Diabetes Mellitus, Features of Metabolic Syndrome, and Diabetic Cardiovascular Complications in a Chinese Population

BACKGROUND: Ectoenzyme nucleotide pyrophosphate phosphodiesterase 1 (ENPP1) is known to influence insulin sensitivity by inhibiting insulin receptor signaling. A DNA polymorphism in the ENPP1 gene at exon 4 (K121Q) was demonstrated to be associated with insulin resistance, type 2 diabetes mellitus (T2DM), and a risk of early myocardial infarction, albeit with controversy. Our aim was to investigate any association of ENPP1 K121Q alleles with T2DM, features of the metabolic syndrome, and diabetic cardiovascular complications in a Chinese population of Han origin. METHODS: The ENPP1 K121Q polymorphism was determined by a restriction fragment-length polymorphism-polymerase chain reaction in 1,862 patients with T2DM and 844 non-diabetic subjects. RESULTS: The genotype distributions or Q-allele frequency were not statistically different between the diabetic and non-diabetic groups. The anthropometric parameters, systolic and diastolic blood pressures, lipid profiles, and serum creatinine levels of subjects with different ENPP1 K121Q polymorphisms were not statistically different in the two groups or even in the pooled data. When sub-group analyses of diabetic subjects were stratified according to BMI levels (greater or less than 27), gender, age of diabetes onset (older or younger than 60 years), and the presence or absence of a diabetic family history; this polymorphism was still not associated with T2DM. Nor was the ENPP1 K121Q polymorphism associated with the prevalence of coronary artery disease and ischemic cerebrovascular disease in patients with T2DM. CONCLUSION: The ENPP1 K121Q polymorphism is not related to T2DM, features of the metabolic syndrome, or diabetic macrovascular complications in a Chinese population