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Xanthelasma may be found in patients with familial or common types of hypercholesterolemia.[1]
It is specifically mentioned as a clinical manifestation in familial hypercholesterolemia and type 3 hyperlipoproteinemia.[2-3]
A study found that 50% of patients with xanthelasma had dyslipidemia, which is higher than the general population.[4]
Xanthelasma is less specific but still a recognized sign of familial hypercholesterolemia.[3]
Due to its association with lipid abnormalities, patients with xanthelasma are recommended to check their lipid profile and consider lipid-lowering medications.[4]
Additional info
The relationship between xanthelasma and hyperlipidemia underscores the importance of lipid profile evaluation in patients presenting with this condition. Xanthelasma, being a visible marker, can serve as a clinical clue prompting further investigation into a patient's lipid status. This is particularly crucial as managing hyperlipidemia can significantly reduce the risk of cardiovascular diseases. Early detection and appropriate management of lipid levels can be guided by the presence of xanthelasma, making it not only a cosmetic concern but also a potentially valuable diagnostic indicator.
References
Reference 1
1.
Elsevier ClinicalKey Clinical Overview
Diagnosis
Commonly there are no signs of dyslipidemia
Eyes
Corneal arcus occurs in patients with familial and other types of hypercholesterolemia
In a young person, corneal arcus is very suggestive of familial hypercholesterolemia
Xanthelasma may be found in patients with familial or common types of hypercholesterolemia
Lipemia retinalis, a creamy appearance within retinal blood vessels, can rarely be seen in patients with severe hypertriglyceridemia
Skin
Xanthomas
Eruptive xanthomas, which appear as small papules on buttocks and back, may occur in patients with severe hypertriglyceridemia
In familial hypercholesterolemia, xanthomas may appear on skin covering extensor tendons of hands, Achilles tendons, and insertions of patellar tendons; xanthelasma may also appear on skin around eyes
Orange palmar creases may occur with type III hyperlipoproteinemia
Other
Corneal opacification, with or without tonsillar hypertrophy and splenomegaly, may be seen with specific severe low HDL-C syndromes (eg, Tangier disease, lecithin–cholesterol acyltransferase deficiency)
Increased waist circumference (reflecting abdominal adiposity) correlates with high triglyceride level with or without low HDL-C level
Reference 2
2.
Elsevier ClinicalKey Derived Clinical Overview
• Familial lipoprotein lipase deficiency: Recurrent bouts of abdominal pain in infancy, eruptive xanthomas, hepatomegaly, splenomegaly, lipemia retinalis
• Familial apoprotein CII deficiency: Occasional eruptive xanthomas
• Familial type 3 hyperlipoproteinemia: Xanthoma striata palmaris or tuberoeruptive xanthomas, xanthelasmas, arterial bruits at a young age, gangrene of the lower extremities at a young age
• Familial hypercholesterolemia: Tendon xanthomas, arcus corneae, xanthelasma
• Familial hypertriglyceridemia: Associated obesity; eruptive xanthomas (Fig. E2) can develop with exacerbations
FIG. E2Xanthomas in homozygous familial hypercholesterolemia (plaques of yellow color).From Micheletti RG et al:Andrews’ diseases of the skin: clinical atlas,ed 2, Philadelphia, 2023, Elsevier.
Reference 3
3.
Genest, Jacques, Mora, Samia, Libby, Peter (2022). In Braunwald’s Heart Disease: A Textbook of Cardiovascular Medicine (pp. 502). DOI: 10.1016/B978-0-323-72219-3.00027-X
Elucidation of the pathway by which complex molecules enter the cell by receptor-mediated endocytosis and discovery of LDL-R represent landmarks in cell biology and clinical investigation.Affected subjects have an elevated LDL-C level greater than the 95th percentile for age and sex, approximately 190 mg/dL (5.0 mmol/L) in adults. In adulthood, clinical manifestations include tendinous xanthomas over the extensor tendons (metacarpophalangeal joints, patellar, triceps, and Achilles tendons); corneal arcus and xanthelasma are less specific signs of FH. These clinical findings are increasingly rare, as biochemical testing enables earlier recognition and treatment. Transmission is autosomal codominant. The diagnosis of FH is usually made according to the Dutch Lipid Clinics Network or the Simon-Broome criteria. A new definition for FH relies on a simpler system combining LDL-C,family history of elevated cholesterol, or premature ASCVD.These definitions are highly concordant and rely on the absolute levels of LDL-C, family history of premature ASCVD, family history of elevated LDL-C, cutaneous manifestations and, if available, DNA analysis. Heterozygous FH (HeFH) affects approximately 1 in 311,,with a higher prevalence in populations with a founder effect. Patients with FH have high risk for the development of CAD by the third to fourth decade in men and approximately 8 to 10 years later in women.The presence of a mutation in a gene known to cause FH increases cardiovascular risk by greater than 10- to 20-fold.28–30Genetic testing for FH is now recommended to make a precise diagnosis and guide therapy, and to inform cascade testing of siblings and offspring.Remarkably, prompt recognition in childhood or early adulthood and treatment (statins) can normalize life expectancy.
Reference 4
4.
Wang KY, Hsu KC, Liu WC, Yang KC, Chen LW. Annals of Plastic Surgery. 2018;80(2S Suppl 1):S84-S86. doi:10.1097/SAP.0000000000001310.
Publish date: February 4, 2018.
BACKGROUND: Xanthelasma palpebrarum is a common periorbital lesion that occurs in middle-aged woman. Dyslipidemia was strongly associated with the occurrence of xanthelasma. Different treatment methods for xanthelasma were applied with comparable results. MATERIALS AND METHODS: This was a retrospective chart review series performed at a single institute. The surgical pathology of 69 patients who received surgical excision from 1994 to 2012 was obtained. In addition, International Classification of Diseases, Ninth Revision, Clinical Modification code of xanthelasma (374.51) of 44 patients who underwent nonsurgical treatment at an outpatient department was acquired from 2006 to 2012. The serum lipid levels, comorbidities, recurrence, and treatment methods were obtained and analyzed with Statistical Analysis System (SAS) 9.4. RESULTS: Of a total of 113 identified patients, 50 had lipid profile data. Of these 50 patients, 25 (50%) had dyslipidemia, which is higher than general population in Taiwan. The recurrence rate was 17.5%, and there was no statistical difference in the recurrence rate between the different treatment methods. CONCLUSIONS: Xanthelasma was found to be associated with dyslipidemia. Thus, we recommend patients with xanthelasma to check their lipid profile and receive diet control and lipid-lowering medications for lipid abnormalities.