eCONSULTS TO ENDOCRINOLOGISTS IMPROVE ACCESS AND CHANGE PRIMARY CARE PROVIDER BEHAVIOR.

OBJECTIVE: To describe the impact of an eConsult service on access to endocrinologists along with its influence on changing primary care provider (PCP) course of action and referral behaviors. METHODS: Established in 2011, the Champlain BASE (Building Access to Specialist Care via eConsult) service allows PCPs to access specialist care in lieu of traditional face-to-face referrals. We conducted a cross-sectional study of eConsult cases submitted to endocrinologists by PCPs between April 15, 2011 and January 31, 2015. Usage data and PCP responses to a mandatory closeout survey were analyzed to determine eConsult response times, PCP practice behavior, referral outcomes, and provider satisfaction. Each eConsult was coded according to clinical topic and question type based on established taxonomies. RESULTS: A total of 180 PCPs submitted 464 eConsults to endocrinology during the study period. Specialist median response time was 7 hours, with 90% of responses occurring within 3 days. PCPs received a new or additional course of action in 62% of submitted cases. An unnecessary face-to-face referral was avoided in 44% of all eConsults and in 67% of cases where the PCP initially contemplated requesting a referral. Over 95% of cases were rated at least 4 out of 5 in value for PCPs and their patients. CONCLUSION: The use of eConsult improves access to endocrinologists by providing timely, highly rated practice-changing clinical advice while reducing the need for patients to attend face-to-face office visits. ABBREVIATIONS: BASE = Building Access to Specialist Advice through eConsult PCP = primary care physician UCSF = University of California San Francisco.

Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.

The etiology of acquired partial lipodystrophy (APL, also called "Barraquer-Simons syndrome") is unknown. Genomic DNA mutations affecting the nuclear lamina protein lamin A cause inherited partial lipodystrophy but are not found in patients with APL. Because it also encodes a nuclear lamina protein (lamin B2) and its genomic structure was recently reannotated, we sequenced LMNB2 as a candidate gene in nine white patients with APL. In four patients, we found three new rare mutations in LMNB2: intron 1 -6G-->T, exon 5 c.643G-->A (p.R215Q; in two patients), and exon 8 c.1218G-->A (p.A407T). The combined frequency of these mutations was 0.222 in the patients with APL, compared with 0.0018 in a multiethnic control sample of 1,100 subjects (P = 2.1 x 10-7) and 0.0045 in a sample of 330 white controls (P = 1.2 x 10-5). These novel heterozygous mutations are the first reported for LMNB2, are the first reported among patients with APL, and indicate how sequencing of a reannotated candidate gene can reveal new disease-associated mutations.

Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease.

BACKGROUND: Cholesterol ester storage disease (CESD) is an autosomal recessive illness that results from mutations in the LIPA gene encoding lysosomal acid lipase. CESD patients present in childhood with hepatomegaly and dyslipidemia characterized by elevated total and low-density lipoprotein cholesterol (LDL-C), with elevated triglycerides and depressed high-density lipoprotein cholesterol (HDL-C). Usual treatment includes a low fat diet and a statin drug. RESULTS: In an 18-year old with CESD, we documented compound heterozygosity for two LIPA mutations: a novel frameshift nonsense mutation and a deletion of exon 8. The patient had been treated with escalating doses of lovastatin for approximately 80 months, with approximately 15% decline in mean LDL-C. The addition of ezetimibe 10 mg to lovastatin 40 mg resulted in an additional approximately 16% decline in mean LDL-C. CONCLUSION: These preliminary anecdotal findings in a CESD patient with novel LIPA mutations support the longer term safety of statins in an adolescent patient and provide new data about the potential efficacy and tolerability of ezetimibe in this patient group.