TY - JOUR
T1 - First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene
AU - Al-Hinai, Ali T.
AU - Al-Abri, Abdulrahim
AU - Al-Dhuhli, Humoud
AU - Al-Waili, Khalid
AU - Al-Sabti, Hilal
AU - Al-Yaarubi, Saif
AU - Al-Hashmi, Khamis
AU - Banerjee, Yajnavalka
AU - Al-Zakwani, Ibrahim
AU - Al-Rasadi, Khalid
PY - 2013/5
Y1 - 2013/5
N2 - Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report the first case of FH in an Omani family due to a novel mutation in the LDLR gene. A 9-year-old female was referred to our lipid clinic with eye xanthelasmata and thickening of both Achilles tendons. Evaluation of the lipid profile showed the off treatment total cholesterol of 896 mg/dL (23.2 mmol/L), low-density lipoprotein cholesterol (LDL-C) of 853 mg/dL (22.1 mmol/L), APOB of 4.5 g/L, triglyceride of 71 mg/dL (0.8 mmol/L), and high-density lipoprotein cholesterol of 0.74 mmol/L. Genetic analysis of the LDLR gene showed a homozygous frameshift deletion mutation (272delG) at exon 3. The female patient was treated with a combination of rosuvastatin/ezetimibe and LDL apheresis.
AB - Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report the first case of FH in an Omani family due to a novel mutation in the LDLR gene. A 9-year-old female was referred to our lipid clinic with eye xanthelasmata and thickening of both Achilles tendons. Evaluation of the lipid profile showed the off treatment total cholesterol of 896 mg/dL (23.2 mmol/L), low-density lipoprotein cholesterol (LDL-C) of 853 mg/dL (22.1 mmol/L), APOB of 4.5 g/L, triglyceride of 71 mg/dL (0.8 mmol/L), and high-density lipoprotein cholesterol of 0.74 mmol/L. Genetic analysis of the LDLR gene showed a homozygous frameshift deletion mutation (272delG) at exon 3. The female patient was treated with a combination of rosuvastatin/ezetimibe and LDL apheresis.
KW - apheresis
KW - carotid intima media thickness
KW - familial hypercholesterolemia
KW - low-density lipoprotein receptor
KW - mutation
KW - xanthoma
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U2 - 10.1177/0003319712465171
DO - 10.1177/0003319712465171
M3 - Article
C2 - 23162007
AN - SCOPUS:84875963024
SN - 0003-3197
VL - 64
SP - 287
EP - 292
JO - Angiology
JF - Angiology
IS - 4
ER -