Diagnosis and Associated Comorbidities
High cholesterol usually has no signs or symptoms. The only way to know whether or not a person has high cholesterol is to have a healthcare professional conduct a blood test to check the cholesterol level.
Desirable Cholesterol Levels1-3
Less than 200 mg/dL
Low-density lipoprotein-cholesterol (LDL-C, or “bad” cholesterol)
Less than 100 mg/dL
High-density lipoprotein-cholesterol (HDL, or “good” cholesterol)
Greater than or equal to 60 mg/dL
Less than 150 mg/dL
LDL-C levels are key in familial hypercholesterolemia (FH), and are often significantly higher than the reference range above. In heterozygous FH (HeFH), one of the main signs is LDL-C levels over 190 mg/dL in adults and over 160 mg/dL in children. Homozygous FH (HoFH) is much more serious and is a life-threatening condition frequently characterized by cholesterol levels >500 mg/dL, extensive xanthomas, and marked premature and progressive ASCVD.4,5 Just like with non-inherited cholesterol problems, FH contributes to atherosclerotic plaques and leads to a much higher-than-normal risk of coronary heart disease. If left untreated, people with FH have 20 times the risk of developing heart disease.6
- Men with FH get CHD ~10-20 years earlier
- Around half of men with untreated FH will have a heart attack or angina before the age of 50, sometimes in their 20s or earlier6
- In women, CHD can appear 20-30 years earlier.
- ~30% of untreated women will have a heart attack before they turn 60.6
Common comorbidities/conditions of hypercholesterolemia include:7,8
- Type 2 diabetes, which lowers HDL-C and raises LDL-C
- Chronic kidney disease
- Obesity, which is linked to higher triglyceride levels, higher LDL-C, and lower HDL-C
- Nephrotic syndrome
- Eating a diet high in saturated fat and trans fat
- Sedentary lifestyle
In FH, the increased risk of CV events is independent of the risk factors and comorbidities above, meaning that the cholesterol itself must be treated promptly and individually to ensure the best possible outcome.6
- Centers for Disease Control and Prevention (CDC). Getting your cholesterol checked. Reviewed September 8, 2020. www.cdc.gov/cholesterol/cholesterol_screening.htm
- Grundy SM, Stone NJ, Bailey AL, et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/
APhA/ASPC/NLA/PCNA guideline on the management of blood cholesterol: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2019;139(25):e1082-e1143.
- National Cholesterol Education Program. Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report. Circulation. 2002;106:3143-3421.
- Centers for Disease Control and Prevention (CDC). Familial Hypercholesterolemia. Reviewed February 10, 2022. https://www.cdc.gov/genomics/disease/fh/FH.htm
- Cuchel M, Bruckert E, Ginsberg H, et al. Homozygous familial hypercholesterolaemia: New insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J. 2014;35:2146-2157.
- American Heart Association. Familial Hypercholesterolemia (FH). Reviewed November 9, 2020. https://www.heart.org/en/health-topics/cholesterol/causes-of-high-cholesterol/familial-hypercholesterolemia-fh
- Hill M, Bordoni B. Hyperlipidemia. In: StatPearls. Treasure Island (FL): StatPearls Publishing; February 8, 2022. https://www.ncbi.nlm.nih.gov/books/NBK559182/
- Vaseghi G, Javanmard S, Heshmat-Ghahdarijani K, et al. Comorbidities with familial hypercholesterolemia (FH): A systematic review. Curr Probl Cardiol. 2022;101109.