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.
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
