TY - JOUR
T1 - Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia
AU - Hooper, Amanda
AU - Kurtkoti, Jagadeesh
AU - Hamilton-Craig, Ian
AU - Burnett, John
PY - 2014/7
Y1 - 2014/7
N2 - Hypertriglyceridaemia is a common biochemical abnormality that can be due to primary causes or, more commonly, secondary causes. Moderate hypertriglyceridaemia is a risk factor for cardiovascular disease and can develop into severe hypertriglyceridaemia which is a risk factor for acute pancreatitis. Familial chylomicronaemia is a rare autosomal recessive disorder, usually diagnosed in childhood and is characterized by marked hypertriglyceridaemia and biochemical deficiency of lipoprotein lipase (LPL), apolipoprotein (apo) C-II, homozygous (or compound heterozygous) gene mutations in LPL or more rarely, APOC2. Recently, loss-of-function mutations in the APOA5 gene have been reported in patients with severe hypertriglyceridaemia in whom LPL or APOC2 mutations were not found. We describe the clinical features and genetic analysis of three patients with severe hypertriglyceridaemia including novel mutations LPL c.464T>C (p.Leu155Pro) and APOA5 c.823C>T (p.Gln275*).
AB - Hypertriglyceridaemia is a common biochemical abnormality that can be due to primary causes or, more commonly, secondary causes. Moderate hypertriglyceridaemia is a risk factor for cardiovascular disease and can develop into severe hypertriglyceridaemia which is a risk factor for acute pancreatitis. Familial chylomicronaemia is a rare autosomal recessive disorder, usually diagnosed in childhood and is characterized by marked hypertriglyceridaemia and biochemical deficiency of lipoprotein lipase (LPL), apolipoprotein (apo) C-II, homozygous (or compound heterozygous) gene mutations in LPL or more rarely, APOC2. Recently, loss-of-function mutations in the APOA5 gene have been reported in patients with severe hypertriglyceridaemia in whom LPL or APOC2 mutations were not found. We describe the clinical features and genetic analysis of three patients with severe hypertriglyceridaemia including novel mutations LPL c.464T>C (p.Leu155Pro) and APOA5 c.823C>T (p.Gln275*).
KW - ApoA-V
KW - apoC-II
KW - hypertriglyceridaemia
KW - lipoprotein lipase
KW - primary chylomicronaemia
UR - http://www.scopus.com/record/display.url?eid=2-s2.0-84902163746&origin=inward&txGid=DE24F26DDE56E07BBBB11AF562CC10E0.fM4vPBipdL1BpirDq5Cw%3a128
UR - http://www.scopus.com/inward/record.url?scp=84902163746&partnerID=8YFLogxK
U2 - 10.1177/0004563214525767
DO - 10.1177/0004563214525767
M3 - Article
SN - 0004-5632
VL - 51
SP - 485
EP - 489
JO - Annals of Clinical Biochemistry
JF - Annals of Clinical Biochemistry
IS - 4
ER -
