High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil

Medeiros, Lázaro Batista de Azevedo; Dantas, Verônica Kristina Cândido; Sarmento, Aquiles Sales Craveiro; Agnez-Lima, Lucymara Fassarella; Meireles, Adriana Lúcia; Nobre, Thaíza Teixeira Xavier; Lima, Josivan Gomes de; Campos, Julliane Tamara Araújo de Melo

doi:10.1186/s13098-017-0280-7

Cited by 27 publications

(39 citation statements)

References 19 publications

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“…Our study found a high prevalence of CGL (0.86 in 100,000 habitants) in the department of Piura during the year 2017. This prevalence is higher than that reported worldwide, USA, Norway, Lebanon, Portugal (3,9), however it is lower than that reported in other regions such as Rio Grande do Norte and Oman, which can reach 3.23 in 100,000 habitants (4,10).…”

Section: Cases Of Congenital Generalized Lipodystrophy In Piuracontrasting

confidence: 60%

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High prevalence of congenital generalized lipodystrophy in Piura, Peru

Barriga

et al. 2020

IRDR

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congenital generalized lipodystrophy, rare diseases, Peru (Mesh Terms) Congenital generalized lipodystrophy (CGL) is an autosomal recessive rare disease, with a worldwide prevalence of around 1 in every 12 million people. There are several case reports of patients with CGL in Piura, a region in northern Peru; however its regional prevalence is unknown. The objective was to determine the prevalence of CGL in the region of Piura, Peru during the years 2000-2017. A descriptive, observational study was carried out. A search of clinical histories of patients with the diagnosis of CGL attended between 2000 and 2017 in the pediatric and endocrinology services of the reference hospitals of the department of Piura and in the genetic and endocrinology services of the "Instituto Nacional de Salud del Niño". A patient was considered to have CGL if they met the clinical criteria and or if they had a molecular diagnosis, in addition to patients with CGL from the department of Piura reported in previous publications. A total of 23 cases of CGL were found in Piura, the highest prevalence was in 2014 with 1.2 per 100,000 people, and by 2017 the prevalence was 0.86 per 100,000 people. In conclusion, the department of Piura has a high prevalence of CGL.

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Section: Cases Of Congenital Generalized Lipodystrophy In Piuracontrasting

confidence: 60%

“…Globally the prevalence of CGL is estimated at 1 in 12 million people (3), however, the prevalence varies according to the region under study, for example in Rio Grande Do Norte (RN), Brazil, the prevalence of CGL is 3.23 per 100,000 people (4).…”

Section: Introductionmentioning

confidence: 99%

High prevalence of congenital generalized lipodystrophy in Piura, Peru

Barriga

et al. 2020

IRDR

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“…BSCL is a very rare disorder, its prevalence was estimated to be 1-10 case every 10 million (3,17), although it could reach 3 per 100,000 people in some areas (18). Some of the mutations recur in specific geographic areas, probably due to a "founder effect" (19), and their presence is unveiled by consanguineous and endogamic marriages or in small and isolated communities.…”

Section: Introductionmentioning

confidence: 99%

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease

et al. 2020

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Berardinelli-Seip congenital lipoatrophy (BSCL) is characterized by near total fat atrophy, associated with the progressive development of metabolic complications. BSCL type 1 (BSCL1) is caused by mutations in AGPAT2, encoding 1-acylglycerol-3phosphate-O-acyltransferase β (recently renamed lysophosphatidic acid acyltransferase beta), which catalyzes the transformation of lysophosphatidic acid in phosphatidic acid, the precursor of glycerophospholipids and triglycerides. BSCL1 is an autosomal recessive disease due to AGPAT2 pathogenic variants leading to a depletion of triglycerides inside the adipose organ, and to a defective signaling of key elements involved in proper adipogenesis. We herein investigated the characteristics of two AGPAT2 variants in Caucasian Italian patients with Berardinelli-Seip congenital lipoatrophy. The first patient exhibited a novel homozygous nonsense c.430 C > T AGPAT2 mutation (p.Gln144 *) predicting the synthesis of a truncated enzyme of approximately half of the proper size. The second patient harbored a homozygous AGPAT2 missense variant (p.Arg159Cys), never described previously in BSCL1 patients: the segregation of the disease with the mutation in the pedigree of the family and the in silico analysis are compatible with a causative role of the p.Arg159Cys variant. We remark that BSCL1 can be clinically very heterogeneous at presentation and that the associated complications, occurring in the natural history of the disease, reduce life-expectancy. We point to the necessity for medical treatments capable of reducing the risk of cardiovascular death. In BSCL1 patients, the assessment of cardiovascular disease with conventional diagnostic means maybe particularly challenging.

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“…Accelerated linear growth, advanced bone age and signs indicative of acromegaly, such as enlargement of the hands, feet and jaw, may be observed (3). Cystic bone lesions are frequently noted in CGL1 patients (10,72,73). Hyperinsulinemia and severe insulin resistance develop in the majority of patients with CGL due to near total adipose tissue loss and leptin deficiency (10,74).…”

Section: Metabolic Abnormalitiesmentioning

confidence: 99%

Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

Özen

Akıncı

Oral

2020

Jcrpe

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Lipodystrophy is a heterogeneous group of disorders characterized by lack of body fat in characteristic patterns, which can be genetic or acquired. Lipodystrophy is associated with insulin resistance that can develop in childhood and adolescence, and usually leads to severe metabolic complications. Diabetes mellitus, hypertriglyceridemia, and hepatic steatosis ordinarily develop in these patients, and most girls suffer from menstrual abnormalities. Severe complications develop at a relatively young age, which include episodes of acute pancreatitis, renal failure, cirrhosis, and complex cardiovascular diseases, and all of these are associated with serious morbidity. Treatment of lipodystrophy consists of medical nutritional therapy, exercise, and the use of anti-hyperglycemic and lipid-lowering agents. New treatment modalities, such as metreleptin replacement, promise much in the treatment of metabolic abnormalities secondary to lipodystrophy. Current challenges in the management of lipodystrophy in children and adolescents include, but are not limited to: (1) establishing specialized centers with experience in providing care for lipodystrophy presenting in childhood and adolescence; (2) optimizing algorithms that can provide some guidance for the use of standard and novel therapies to ensure adequate metabolic control and to prevent complications; (3) educating patients and their parents about lipodystrophy management; (4) improving patient adherence to chronic therapies; (5) reducing barriers to access to novel treatments; and (5) improving the quality of life of these patients and their families.

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High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil

Cited by 27 publications

References 19 publications

High prevalence of congenital generalized lipodystrophy in Piura, Peru

High prevalence of congenital generalized lipodystrophy in Piura, Peru

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease

Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

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