An Atypical HNF4A Mutation Which Does Not Conform to the Classic Presentation of HNF4A-MODY.

OBJECTIVE: To present the case of an atypical Hepatocyte Nuclear Factor 4 Alpha (HNF4A) mutation that is not consistent with the classically published presentation of HNF4A-Mature Onset Diabetes of the Young (MODY). METHODS: Clinical presentation and literature review. RESULTS: A 43-year-old nonobese man was referred to the endocrinology clinic for evaluation of elevated fasting blood glucose (FBG) measurements. Laboratory review revealed prediabetes and hypertriglyceridemia for the previous decade. Testing of autoantibodies for type 1 diabetes was negative. Genetic testing showed an autosomal dominant, heterozygous missense mutation (c.991C>T; p.Arg331Cys) in the HNF4A gene, which is correlated with HNF4A-MODY. Phenotypically, patients with an HNF4A-MODY tend to have early-onset diabetes, microvascular complications, low triglyceride levels, increased birth weight, fetal macrosomia, and less commonly neonatal hyperinsulinemic hypoglycemia. The patient did not demonstrate any of these features but instead presented with late-onset diabetes, an elevated triglyceride level, and a normal birth weight. CONCLUSION: Our patient likely represents an atypical variant of HNF4A-MODY with a milder clinical presentation. Patients with atypical, less-severe presentations of HNF4A-MODY may be largely undiagnosed or misdiagnosed, but identification is important due to implications for treatment, pregnancy, and screening of family members.

Proton pump inhibitor prescribing and costs in a large outpatient clinic.

UNLABELLED: Concerns have been raised regarding potential adverse effects and high costs of proton pump inhibitors (PPIs). Our objective was to assess issues of PPI utilization and expense in a large outpatient clinic population. METHODS: Two hundred-fifty-nine outpatient records were reviewed regarding PPI prescribing and indications during 2009. A cost analysis was performed to project cost differences if histamine-2 receptor antagonists (H2RAs) were used as an alternative to PPIs in appropriate clinical situations. RESULTS: Eighty-three (32.0%) were taking PPIs. Problem-listed gastroesophageal reflux disease (GERD) was the primary diagnosis in 69 (83.1%) of patients on PPIs. GERD was not apparent by documented history and/or endoscopy in 46.3% of problem-listed GERD patients. Symptom severity had been documented in only 36.2%. Cost analysis projected substantial savings if H2RAs had been used initially for mild to moderate symptoms. CONCLUSIONS: Outpatient PPI prescribing indications are not well documented and PPI use is probably excessive. H2RA therapy is likely underutilized.