NOVEL MUTATION IN THE APOB GENE (Apo B-15.56): A CASE REPORT
Bove M1, Carnevali L, Cicero AFG, Tarugi P, Gaddi AV
*Corresponding Author: Marilisa Bove, “GC. Descovich” Atherosclerosis and Metabolic Disease Research Unit, Internal Medicine, Aging & Kidney Diseases Department, University of Bologna, Policlinico S.Orsola, Malpighi, Via Massarenti 9, 40138 Bologna, Italy; Tel./FAX: +39-(0)516-363-262; E-mail: marilisa.bove@aosp.bo.it
page: 65

DISCUSSION

It is well known that phenotypic expression of heterozygous forms of FHBL is variable according to environmental or genetic factors [7]. The FHBL heterozygotes may be asymptomatic, being usually identified after routine blood work or plasma cholesterol screening, or have clinical manifestations that require medical attention. Several authors considered these patients protected against atherosclerotic coronary heart disease (CHD), due to their reduced life-time exposure to atherogenic Apo-B containing lipoproteins [2]. However, we described a case of heterozygous form of FHBL, with phenotypic aspects characteristic of MS, caused by a novel gene mutation of Apo-B 100 (Apo B-15.56), which is probably related to a higher risk of cardiovascular events [16,17]. We also underline the probable relationship between FHBL and some pathological features that characterize MS, i.e., obesity and IR [16]. Metabolic syndrome is a common disorder, characterized by visceral obesity, impaired glucose metabolism, raised blood pressure, atherogenic dyslipidemia, and the existence of a proinflammatory and prothrombotic state. Metabolic syndrome is a progressive condition, associated with a significantly increased risk of cardiovascular events and type 2 diabetes mellitus (T2DM) onset [17]. Metabolic syndrome is defined in various ways, but the latest diagnostic criteria proposed by the International Diabetes Federation are central obesity (waist circumference >94 cm in men and >80 cm in women), plus at least two of the following: fasting glucose serum level higher than 100 mg/dL, blood pressure values higher than 130/85 mmHg or antihypertensive treatment, fasting triglycerides serum level higher than 150 mg/dL, and HDL-c level lower than 40 mg/dL in men and 50 mg/dL in women [18]. This case illustrates the importance of a careful evaluation of lipid profiles, along with a genetic analysis, to get the correct diagnosis. Very low values of Apo-B and LDL-c are not included in the diagnostic criteria of MS [19], and are sometimes ignored by physicians, especially when patients are asymptomatic. However, FHBL is often associated with other disorders that could worsen the hepatic function and increase the risk of CVD development [17]. In this patient, the heterozygous form of FHBL was included in a clinical context of MS that could be the cause of a rapid development of atherosclerotic disease and metabolic dysfunctions.



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