Abstract
Congenital Generalized Lipodystrophy (CGL) is a rare syndrome characterized by the almost total absence of subcutaneous adipose tissue due to the inability of storing lipid in adipocytes. Patients present generalized lack of subcutaneous fat and normal to low weight. They evolve with severe metabolic disorders, non-alcoholic fatty liver disease, early cardiac abnormalities, and infectious complications. Although low body weight is a known risk factor for osteoporosis, it has been reported that type 1 and 2 CGL have a tendency of high bone mineral density (BMD). In this review, we discuss the role of bone marrow tissue, adipokines, and insulin resistance in the setting of the normal to high BMD of CGL patients. Data bases from Pubmed and LILACS were searched, and 113 articles published until 10 April 2021 were obtained. Of these, 76 were excluded for not covering the review topic. A manual search for additional literature was performed using the bibliographies of the studies located. The elucidation of the mechanisms responsible for the increase in BMD in this unique model of insulin resistance may contribute to the understanding of the interrelationships between bone, muscle, and adipose tissue in a pathophysiological and therapeutic perspective.
Highlights
Congenital Generalized Lipodystrophy (CGL), called Berardinelli–Seip syndrome, was first described in 1954 in two Brazilian children
We discuss the role of bone marrow tissue, adipokines, and insulin in the setting of the normal to high bone mineral density (BMD) of CGL patients
Normal bone marrow is constituted by a variable proportion of hematopoietic cells and adipocytes
Summary
Congenital Generalized Lipodystrophy (CGL), called Berardinelli–Seip syndrome, was first described in 1954 in two Brazilian children. Both patients had chronic diarrhea and hepatosplenomegaly and presented muscle hypertrophy, acromegalic facies, changes in glycemic metabolism, and hyperlipidemia [1]. Seip described three cases with the same clinical characteristics in Norway. In 1968, autosomal recessive transmission was suggested [2], and compound heterozygosity was found in many of those [3]. In rare cases, an autosomal dominant pattern was featured [4]. It is a rare disease and about 500 cases were reported since its first description [5].
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