Eruptive Xanthomas: Importance of Recognition to Reduce Delay of Effective Triglyceride Reduction

Marogi, Emily; Ohiomoba, Ramael; Stone, Neil J.

doi:10.1016/j.amjmed.2021.09.026

Cited by 8 publications

(9 citation statements)

References 10 publications

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“…However, only 1 EX patient with KS has been reported previously, which presents a new challenge for physicians ( 10 ). In patients with EX, it is recommended that the Four D’s (Diet, Drugs, Disorders of metabolism, and Diseases) of secondary hypertriglyceridaemia should be evaluated in order to provide early diagnosis and target treatment ( 11 ).…”

Section: Discussionmentioning

confidence: 99%

Eruptive Xanthoma as a Cutaneous Manifestation in a 30-year-old Man with Klinefelter Syndrome

Wu¹,

Zhang²,

Dou

2022

Acta Derm Venereol

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Section: Discussionmentioning

confidence: 99%

Eruptive Xanthoma as a Cutaneous Manifestation in a 30-year-old Man with Klinefelter Syndrome

Wu¹,

Zhang²,

Dou

2022

Acta Derm Venereol

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“…Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive genetic disorder, with an estimated prevalence of one per million (1,2). FCS is characterized by aberrantly high triglyceride level (>10 mmol/L) in the blood, specifically chylomicronemia, due to the impaired Eruptive xanthomas are small erythematous or yellow papules localized on the extensor surfaces of extremities, buttocks, and the back (4), which serve as a clue for severe hypertriglyceridemia. Histologically, accumulation of lipidladen macrophages in the skin can be identified in eruptive xanthomas, which were recently found to be generated by endothelial cell mediated intracellular hydrolysis of internalized chylomicrons, subsequent release of lipids and uptake by skin macrophages (5).…”

Section: Introductionmentioning

confidence: 99%

“…Clinically, the patients with FCS could present with varying symptoms including nausea, vomiting, abdominal pain, and different clinical features such as eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, pancreatitis, and failure to thrive ( 3 ). Eruptive xanthomas are small erythematous or yellow papules localized on the extensor surfaces of extremities, buttocks, and the back ( 4 ), which serve as a clue for severe hypertriglyceridemia. Histologically, accumulation of lipid-laden macrophages in the skin can be identified in eruptive xanthomas, which were known to be generated by endothelial cell mediated intracellular hydrolysis of internalized chylomicrons, subsequent release of lipids and uptake by skin macrophages ( 5 ).…”

Section: Introductionmentioning

confidence: 99%

Novel pathogenic variant combination in LPL causing familial chylomicronemia syndrome in an Asian family and experimental validation in vitro: a case report

H¹,

Wang²

2022

Transl Pediatr

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Background: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder, typically caused by biallelic pathogenic variants in the LPL gene. Lipoprotein lipase, encoded by the LPL gene, catalyzes the hydrolysis of triglycerides, and its deficiency or dysfunction can lead to chylomicronemia and potentially fatal recurrent acute pancreatitis.Case Description: Here, we report an Asian family with FCS due to compound heterozygous LPL variants. The 4-year-old patient presented with splenomegaly and severe hypertriglyceridemia, specifically chylomicronemia which resulted in abnormal coagulation measured by a turbidity-based assay. Based on the clinical symptoms and family history, the diagnosis of FCS was suspected, and confirmed by the identification of compound heterozygous variants in the LPL gene (c.461A>G; p.His154Arg and c.788T>A; p.Leu263Gln) in the patient, inheriting one from each parent. According to the clinical and genetic findings, the patient was diagnosed with FCS. In vitro experimental validation found that the LPL p.H154R pathogenic variant reduced the expression of lipoprotein lipase and decreased its lipolytic activity, while the LPL p.L263Q pathogenic variant mainly impaired its lipolytic activity.Conclusions: FCS was molecularly diagnosed using whole exome sequencing in the case presented.Caution should be taken when interpretating the coagulation profile of FCS patients due to increased plasma turbidity caused by the high chylomicron levels. When interpreting abnormal coagulation profiles measured by turbidity-based assay, the possibility of lipemic blood (or chylomicronemia) should be considered and the presence of this phenomenon might indicate the diagnosis of FCS. In vitro experiments showed that the two LPL variants impaired lipoprotein lipase expression and function.

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“…Eruptive xanthomas present as small, grouped, erythematous to yellow papules most commonly on the extensor surfaces of the extremities, buttocks, and trunk. 1,2 Early lesions have a surrounding halo with associated tenderness, pruritus, and burning sensation. The diagnosis of eruptive xanthoma is based on clinical manifestations, especially in patients with risk factors.…”

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confidence: 99%

“…The diagnosis of eruptive xanthoma is based on clinical manifestations, especially in patients with risk factors. Skin biopsy specimens showing lipidized macrophages (foam cells), extracellular lipid deposition, and perivascular inflammatory infiltration exclude other possibilities on the differential diagnosis, including molluscum contagiosum, Langerhans cell histiocytosis, non–Langerhans cell histiocytosis, sebaceous hyperplasia, disseminated granuloma annulare, and nodular basal cell carcinoma …”

mentioning

confidence: 99%