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[Identifying possible homozygous familial hypercholesterolemia patients: an Italian experts' opinion]

Claudio Bilato1, Alberto Zambon2, Livia Pisciotta3

  • 1Dipartimento Cardiovascolare, Azienda ULSS 8 Berica, Arzignano (VI).

Giornale Italiano Di Cardiologia (2006)
|December 27, 2022
PubMed

Insights

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder causing dangerously high LDL cholesterol. Italian experts propose algorithms to help identify potential HoFH patients for early, specialized lipid-lowering therapy.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Metabolic Disorders

Context:

  • Homozygous familial hypercholesterolemia (HoFH) is a rare genetic condition.
  • Characterized by extremely high low-density lipoprotein cholesterol (LDL-C) levels.
  • Leads to premature atherosclerosis and severe cardiovascular events.

Purpose:

  • To provide practical guidance for identifying potential HoFH cases.
  • To facilitate early diagnosis and prompt initiation of lipid-lowering therapy.
  • To address the challenge of HoFH rarity in non-specialized centers.

Summary:

  • HoFH results from mutations in genes like LDLR, APOB, PCSK9, and LDLRAP1.
  • Untreated HoFH has a very high mortality rate, with fatalities recorded even in early childhood.
  • Italian experts developed three algorithms to aid in suspecting and identifying HoFH patients.
  • Suspected cases should be referred to specialized centers for optimal management.

Impact:

  • Early identification and treatment are crucial to prevent or delay cardiovascular complications.
  • The proposed algorithms aim to improve the detection rate of HoFH.
  • Facilitates timely referral to specialized centers for effective management of this rare disease.

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