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Familial hypercholesterolemia with multiple large tendinous xanthomas and advanced coronary artery atherosclerosis

Fumio Terasaki1, Hideaki Morita, Mariko Harada-Shiba

  • 1Department of Cardiology, Osaka Medical College, Japan. in3012@poh.osaka-med.ac.jp

Internal Medicine (Tokyo, Japan)
|March 2, 2013
PubMed

Insights

This case study details a man with familial hypercholesterolemia and severe coronary ischemia. Despite extensive genetic testing, the specific gene mutation causing his condition remains unidentified.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Familial hypercholesterolemia (FH) is an inherited disorder characterized by high cholesterol levels.
  • Untreated FH significantly increases the risk of premature cardiovascular disease.
  • Tendinous xanthomas and thickened Achilles tendons are physical manifestations of severe hypercholesterolemia.

Observation:

  • A 53-year-old man with severe coronary ischemia, hypercholesterolemia, and long-standing xanthomas underwent successful coronary artery bypass surgery.
  • The patient had a family history of dyslipidemia, leading to a diagnosis of familial hypercholesterolemia.
  • Physical examination revealed multiple large tendinous xanthomas and thickened Achilles tendons, present for over 20 years.

Findings:

  • Despite a comprehensive genetic analysis targeting key genes (LDLR, PCSK9, ARH, APOB), no causative mutations were identified.
  • This suggests potential novel genetic factors or complex inheritance patterns contributing to the patient's FH phenotype.
  • The patient's severe coronary ischemia highlights the significant cardiovascular risk associated with undiagnosed or undertreated FH.

Implications:

  • This case underscores the importance of clinical diagnosis of FH, even when genetic testing is inconclusive.
  • Further research is needed to identify novel genes or mechanisms involved in rare or complex forms of FH.
  • Early diagnosis and management of FH are crucial to prevent severe cardiovascular complications.

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