The value of physical signs in identifying patients with familial hypercholesterolemia in the era of genetic testing

Rallidis, Lοukianos S.; Iordanidis, Dimitrios; Iliodromitis, Efstathios K.

doi:10.1016/j.jjcc.2020.07.005

Cited by 13 publications

(27 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…PCSK9 is a low abundance plasma protein that ultimately tags the LDLR for eventual degradation after internalisation of the receptor into the hepatocyte. A rare autosomal recessive form of FH can be seen with patients with LDL receptor adaptor protein ( LDRAP1 ) mutations 6–9…”

Section: Geneticsmentioning

confidence: 99%

“…A family history of premature ASCVD (men under the age of 55 years and women under the age of 60 years) increases the probability that FH is the cause of severe hypercholesterolaemia 5. Physical stigmata include cutaneous manifestations such as tendon xanthomas (hard subcutaneous nodules commonly occurring in the Achilles tendon and extensor tendons of the hand), as well as corneal arcus (grey-white-yellow opacity located at the periphery of the cornea) 6. For history of premature ASCVD, aortic stenosis, supravalvular aortic stenosis or peripheral arterial disease are also possible 1…”

Section: Diagnostic Criteriamentioning

confidence: 99%

See 1 more Smart Citation

Familial hypercholesterolaemia and emerging therapeutics

Farias

Kim

Shapiro

2023

Heart

View full text Add to dashboard Cite

Section: Geneticsmentioning

confidence: 99%

Section: Diagnostic Criteriamentioning

confidence: 99%

Familial hypercholesterolaemia and emerging therapeutics

Farias

Kim

Shapiro

2023

Heart

View full text Add to dashboard Cite

“…Other less-specific findings include lipid deposits under eyelid skin (xanthelasma) and around the cornea (arcus cornealis) (Table 1; Figure 1). Recognizing physical signs of FH may not only assist diagnosis but also offer prognostic value beyond genotype (Rallidis, et al, 2020).…”

Section: Diagnosis: Family History Cholesterol Levels Clinical Signs ...mentioning

confidence: 99%

“…Familial hypercholesterolemia (FH) is one of the most common autosomal dominant genetic disorders affecting approximately 10–30 million individuals worldwide (Nordestgaard et al, 2013; Rallidis et al, 2020). Underrecognized and ofter undiagnosed or poorly treated, it is characterized by increased plasma total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels starting at birth, tendinous xanthomata, and significant risk of premature coronary artery disease.…”

Section: Introductionmentioning

confidence: 99%

The genetics of autosomal dominant familial hypercholesterolemia

Anderson,

Botti

2023

J Am Assoc Nurse Pract

View full text Add to dashboard Cite

Familial hypercholesterolemia (FH) is one of the most common genetic conditions. Affected individuals are unable to metabolize cholesterol due to inherited changes in the low-density lipoprotein (LDL) receptor, which impairs the ability to metabolize cholesterol, resulting in extremely high levels of cholesterol that leads to premature coronary artery disease. Autosomal dominant FH is caused by variants in several genes, which may present as heterozygous FH (less severe) or homozygous FH (more severe). Clinical diagnosis may be more likely when there is a family history of two or more first-degree relatives with total and LDL-cholesterol (LDL-C) level elevations, a child is identified, or the affected individual or close relatives have tendon xanthomas and/or progressive atherosclerosis. This article provides an overview of autosomal dominant FH, including disease prevalence, clinical diagnostic criteria, genetic variants, diagnostic testing, pathognomonic findings, and treatment options. It also shares a brief case, which highlights challenges associated with genetic test interpretation and the importance of including experienced providers in the diagnosis and treatment of this underdiagnosed and often untreated or undertreated genetic condition.

show abstract

“…In addition it is the cornea or arch of the cornea and the xanthelasmas on the skin of the eyelids. 9 The reason that makes its timely diagnosis necessary is the effects on the cardiovascular system, such as myocardial infarction, stroke, valvular diseases and / or death. 1/3 of cases of ischemic heart disease are attributed to elevated cholesterol levels.…”

Section: Introductionmentioning

confidence: 99%

Familial hypercholesterolemia. Perspectives on FH registry systems

Pavlatou

Kadda

Marvaki³

et al. 2022

HRJ

View full text Add to dashboard Cite

Familial Hypercholesterolemia (FH) is a genetic cause of premature Cardiovascular Disease (CVD) which is the leading cause of morbidity and mortality worldwide. In Greece, it is estimated that 90% of patients remain undiagnosed. Patients with FH are at high risk for cardiovascular events, peripheral arterial disease, stroke and death at a young age. Therefore, early detection of these is important for the implementation of appropriate preventive measures. Patient medical records are a powerful tool for recording and monitoring the disease and promoting clinical practices, thus helping to improve outcomes and reduce the cost of healthcare. Simultaneously with the registers, patient-centered management, multidisciplinary teamwork, involvement of primary care physicians, patient networks and support teams are required. Of most importance is the Greek online register system of people with familial hypercholesterolemia, by the Hellenic Atherosclerosis Society in collaboration with major hospital centers and the Hellenic College of Atherosclerosis Treatment registration system in the community. The purpose is to find people who are suffering from FH, to diagnose, to educate them and to put them under treatment and follow-up. In conclusion, effective care of patients with dyslipidemia requires: a) detailed evaluation of medical history, b) clinical and laboratory tests, and c) patient education programs regarding lifestyle changes and disease management. The above strategies of care will help reduce time and cost of medical treatment, obtain better clinical outcome and improve patients’ quality of life.

show abstract

The value of physical signs in identifying patients with familial hypercholesterolemia in the era of genetic testing

Cited by 13 publications

References 41 publications

Familial hypercholesterolaemia and emerging therapeutics

Familial hypercholesterolaemia and emerging therapeutics

The genetics of autosomal dominant familial hypercholesterolemia

Familial hypercholesterolemia. Perspectives on FH registry systems

Contact Info

Product

Resources

About