Normal Bone Density and Trabecular Bone Score, but High Serum Sclerostin in Congenital Generalized Lipodystrophy

Overview

Journal Bone

Specialties Endocrinology
Orthopedics

Date 2017 Apr 10

PMID 28390904

Citations 14

Authors

Josivan Gomes Lima

Lucia Helena C Nobrega

Natalia Nobrega Lima

Marcel Catao Ferreira Dos Santos

Maria de Fatima P Baracho

Renaud Winzenrieth

Francisco Bandeira

Carolina de O Mendes-Aguiar

Francisco Paulo Freire Neto

Leonardo Capistrano Ferreira

Clifford J Rosen

Selma Maria B Jeronimo

Affiliations

Soon will be listed here.

Abstract

Context: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty in storing lipids in adipocytes, low body fat mass, hypoleptinemia, and hyperinsulinemia. Sclerostin is a product of SOST gene that blocks the Wnt/β-catenin pathway, decreasing bone formation and enhancing adipogenesis. There are no data about sclerostin in people with BSCL.

Objective: We aimed to evaluate serum sclerostin, bone mineral density (BMD), and L1-L4 Trabecular Bone Score (TBS) in BSCL patients, generating new knowledge about potential mechanisms involved in the bone alterations of these patients.

Design, Setting, And Patients: In this cross-sectional study, we included 11 diabetic patients with BSCL (age 24.7±8.1years; 6 females). Sclerostin, leptin, L1-L4 TBS, BMD were measured. Potential pathophysiological mechanisms have been suggested.

Results: Mean serum sclerostin was elevated (44.7±13.4pmol/L) and was higher in men than women (55.3±9.0 vs. 35.1±8.4pmol/L, p=0.004). Median of serum leptin was low [0.9ng/mL (0.5-1.9)]. Seven out of 11 patients had normal BMD, while four patients had high bone mass (defined as Z-score>+2.5SD). Patients on insulin had lower sclerostin (37.3±9.2 vs. 52.6±13.4pmol/L, p=0.05). The mean TBS was 1.402±0.106, and it was higher than 1.300 in nine patients.

Conclusions: Patients with lipoatrophic diabetes (BSCL) have high serum concentrations of sclerostin, normal or high BMD, and reasonable trabecular bone mass measured by TBS. This is the first report of high sclerostin and good bone microarchitecture (TBS) in BSCL patients.

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