Comorbidities with Familial Hypercholesterolemia (FH): A Systematic Review

Golnaz Vaseghi1, Shaghayegh Haghjooy Javanmard2, Kiyan Heshmat-Ghahdarijani3

  • 1Isfahan Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran.

Insights

Familial hypercholesterolemia (FH) patients commonly have chronic kidney disease (CKD). Other comorbidities like diabetes, hypertension, and cancer show inconsistent or lower prevalence in FH populations compared to the general population.

Area of Science:

  • Cardiology
  • Nephrology
  • Endocrinology
  • Oncology

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder characterized by high LDL-C levels, increasing cardiovascular disease (CVD) risk.
  • Understanding non-cardiovascular comorbidities in heterozygous FH (HeFH) is crucial for comprehensive patient management.

Approach:

  • A systematic literature search was conducted across PubMed, Web of Science, and Google Scholar.
  • 23 relevant studies were included to analyze comorbidities such as diabetes, CKD, hypertension, and cancer in FH patients.

Key Points:

  • FH patients exhibit a higher prevalence of chronic kidney disease (CKD).
  • Data on diabetes prevalence in FH patients are inconsistent, with some studies showing higher rates and others lower.
  • Hypertension shows a link to FH, but prevalence varies; cancer prevalence appears similar or lower than in the general population.

Conclusions:

  • Chronic kidney disease (CKD) is identified as a significant and prevalent comorbidity in the FH population, besides cardiovascular diseases.
  • Further research is warranted to clarify the relationship between diabetes and FH, and to investigate cancer prevalence due to limited data and variability.

Related Concept Videos

Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
731
Atherosclerosis III: Management01:26

Atherosclerosis III: Management

Management of atherosclerosis involves an integrated strategy encompassing pharmacological treatment, surgical interventions, lifestyle changes, and nutrition therapy to address the multifactorial nature of the disease.Pharmacological TherapyA cornerstone of atherosclerosis management is the use of pharmacological agents. Statins, such as atorvastatin, are pivotal in inhibiting HMG-CoA reductase, an enzyme that catalyzes an initial step in cholesterol synthesis in the liver. This reduction in...
62
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests01:27

Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
79
Lipid-Lowering Drugs: Statins and Miscellaneous Agents01:20

Lipid-Lowering Drugs: Statins and Miscellaneous Agents

Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
938
Coronary Artery Disease I: Introduction01:30

Coronary Artery Disease I: Introduction

Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
315
Atherosclerosis I: Introduction01:30

Atherosclerosis I: Introduction

Atherosclerosis is a progressive disorder characterized by the buildup of plaques on the arterial inner wall, causing them to narrow and harden over time. These plaques comprise lipids, calcium, blood components, carbohydrates, and fibrous tissue. The process primarily affects the intima of large and medium-sized arteries, reducing blood flow in any artery.Etiology and risk factorsThe cause of atherosclerosis is multifactorial, involving a complex interplay among endothelial injury, lipid...
155