First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene

Ali T. Al-Hinai, Abdulrahim Al-Abri, Humoud Al-Dhuhli, Khalid Al-Waili, Hilal Al-Sabti, Saif Al-Yaarubi, Khamis Al-Hashmi, Yajnavalka Banerjee, Ibrahim Al-Zakwani, Khalid Al-Rasadi*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)287-292
Number of pages6
JournalAngiology
Volume64
Issue number4
DOIs
Publication statusPublished - May 2013

Keywords

  • apheresis
  • carotid intima media thickness
  • familial hypercholesterolemia
  • low-density lipoprotein receptor
  • mutation
  • xanthoma

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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