ABC | Volume 111, Nº5, November 2018

Case Report Izar et al Dercum’s disease and dyslipidemia in infanthood Arq Bras Cardiol. 2018; 111(5):755-757 Figure 1 – Magnetic resonance images acquired in the A) sagital plane (T1-weighted) and in the B) axial plane (T2-weighted) showing diffusely prominent subcutaneous adipose tissue without delineation of margins or signs of an encapsulated lesion. C) Similar findings are observed in the lumbar region on the T1-weighted sagital image, where it is also possible to identify a linear scar, secondary to a previous surgical resection. 17-hidroxiprogesterone (76 ng/dL), testosterone (124 ng/dL), and estradiol (24.10 pg/mL) were high for her age. Dehydroepiandrosterone-sulphate (28.4 µg/dL) and growth hormone (0.67 ng/mL) were in the normal range. Normal concentration of N-terminal pro-B-type natriuretic peptide (NT pro-BNP) was observed, reflecting no myocardial dysfunction. Genetic analysis showed apolipoprotein E genotype E3/E4 and Factor V Leiden -/-, not representing genetic risk factors for cardiovascular disease. Body composition was evaluated via bioelectrical impedance analysis (BIA 450, Biodynamics Inc, USA), revealing normal levels of water in the body (23.1 L), but high fat mass component (40%), for gender and age. The therapeutic regimen adopted for the child was metformin 850 mg, atorvastatin 20 mg, losartan 25 mg, hydrochlorothiazide 12,5 mg, gabapentin 300 mg three times a day, fentanyl adhesive 12.5 mcg every 72 h, amitriptyline 50 mg at night for reduction of the neuropathic pain, and morphine 10 mg in exceptional pain crises. To our knowledge, this is the first report of a case of Dercum’s disease affecting a prepubescent child with lipomas in the dorsal region, face and neck, abdominal wall, arms and legs, which are common sites for lipomas seen in patients with Dercum’s disease in adulthood. 7 The presentation of lipomas in the backbone can produce a compression of the neural plexus, causing extreme pain, extending to upper and lower limbs, and anterior upper trunk, thus limiting normal daily activities. The child features a rare presentation of Dercum's disease or lipomatosis dolorosa at a young age. The diagnosis of Dercum’s disease was based on the differential diagnosis with other lipomatosis, as recently proposed by Hansson et al. 3 Her parents and siblings did not show any signs of lipomatosis or lipomatosis dolorosa , ruling out the diagnosis of familial multiple lipomatosis, as described by Campen et al. 4 Besides the abnormal fat accumulation, interesting findings observed in the patient were hyperinsulinemia, low HDL‑cholesterol, hyperbetalipoprotinemia, with predominance of small-dense LDL and HDL particles, characterizing an insulin resistance state. The HDL map revealed a phenotype of particles associated with increased cardiovascular risk, with low concentration of HDL-2 particles, which are related to cardiovascular protection, and high concentration of the less protective HDL-3 particles. 8 These changes in the HDL particle profile can occur by inherited and acquired factors, or secondary to drugs and vigorous aerobic exercise, and in chronic high alcohol intake. The predominance of small dense LDL is associated with progression of atherosclerosis and is frequent in subjects with multiple risk factors for cardiovascular disease, such as diabetes, obesity, and other insulin resistance states. 9 In patients with lipomatosis, an association with altered activity of lipoprotein lipase (LPL) in the lipomatous tissue, affecting the metabolism of HDL particles, has been also described. 10 However, the authors do not regard LPL activity as the most acceptable mechanism to justify the changes in lipoprotein sub-fractions observed in Dercum’s disease. The present study did not assess LPL activity in this patient, and other mechanisms may have affected the remodeling of lipoprotein sub-fractions. High concentration of inflammatory markers, such as lipoprotein associated phospholipase A2 (Lp-PLA2) and C-reactive protein, are in accordance with a pro-inflammatory state that accompanies these lipomas. Also, small dense LDL particles can interact with Lp-PLA2, thus contributing for the synthesis of products that start the inflammatory signaling cascade by C-reactive protein. 11 The normal synthesis and absorption of cholesterol, as well as thyroid hormone secretion and Apo E genotype, cannot explain the genesis of these lipomas. It is possible that changes in glucose metabolism in the lipomas, imbalance between lipolysis and lipogenesis, and the need for different lipids and cholesterol for adipocyte hypertrophy could explain lipoma formation, 12 and can be associated with the changes in lipoprotein sub-fractions observed in Dercum’s disease. 756