Abstract
BackgroundMetabolic abnormalities in congenital generalized lipodystrophy (CGL) are associated with microvascular complications. However, the evaluation of different types of neuropathy in these patients, including the commitment of cardiovascular autonomic modulation, is scarce. The objective of the present study was to determine the prevalence of cardiovascular autonomic neuropathy (CAN) in patients with CGL compared with individuals with type 1 diabetes and healthy subjects.MethodsTen patients with CGL, 20 patients with type 1 diabetes and 20 healthy subjects were included in the study. Controls were paired 1:2 for age, gender, BMI and pubertal stage. Heart rate variability (HRV) was analyzed using cardiovascular autonomic reflex tests, including postural hypotension test, Valsalva (VAL), respiratory (E/I) and orthostatic (30/15) coefficients, and spectral analysis of the HRV, determining very low (VLF), low (LF) and high (HF) frequencies components. The diagnosis of CAN was defined as the presence of at least two altered tests.ResultsCAN was detected in 40% of the CGL patients, 5% in type 1 diabetes patients and was absent in healthy individuals (p < 0.05). We observed a significant reduction in the E/I, VLF, LF and HF in CGL cases vs. type 1 diabetes and healthy individuals and lower levels of 30/15 and VAL in CGL vs. healthy individuals. A significant positive correlation was observed between leptin and 30/15 coefficient (r = 0.396; p = 0.036) after adjusting for insulin resistance and triglycerides. Autonomic cardiovascular tests were associated with HbA1c, HOMA-IR, triglycerides and albumin/creatinine ratio in CGL cases.ConclusionsWe observed a high prevalence of CAN in young patients with CGL, suggesting that insulin resistance, hypertriglyceridemia and hypoleptinemia, may have been involved in early CAN development. Additional studies are needed to evaluate the role of leptinemia in the physiopathogenesis of the condition.
Highlights
Metabolic abnormalities in congenital generalized lipodystrophy (CGL) are associated with microvascular complications
Clinical cardiovascular autonomic neuropathy (CAN) was observed in 40% (4/10) of patients with CGL, 5% (1/20) of patients with type 1 diabetes and none of the healthy individuals
CAN was observed as an impairment of the parameters of the sympathetic and parasympathetic cardiovascular autonomic system of patients with CGL compared to patients with type 1 diabetes and healthy individuals (Table 3)
Summary
Metabolic abnormalities in congenital generalized lipodystrophy (CGL) are associated with microvascular complications. Congenital generalized lipodystrophy (CGL) is a condition characterized by absence of subcutaneous adipose tissue, deposition of ectopic fat, and several metabolic alterations. This disease has an autonomic recessive inheritance and has an estimated prevalence of 1:10.000.000 live births, with approximately 300 to 500 cases described in the medical literature [1]. Four genes have been implicated in the diagnosis of the four subtypes of CGL (types 1 to 4): AGPAT2, BSCL2, CAV1 (Caveolin1) and PTRF (polymerase I and transcript release factor). Each of these genes encodes proteins that play important roles in lipid homeostasis [1]. The evaluation of different types of neuropathy in these patients, including the evaluation of cardiovascular autonomic modulation, is scarce [3]
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