Sitosterolemia—10 years observation in two sisters

Veit, Lara; Machado, Gabriella Allegri; Bürer, Céline; Speer, Oliver; Häberle, Johannes

doi:10.1002/jmd2.12038

Cited by 11 publications

(10 citation statements)

References 34 publications

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“…Digenic inheritance has also been described in an individual with heterozygous mutations in ABCG5 and ABCG8 12 . The clinical features are heterogeneous and the age of presentation varies between patients, making early diagnosis challenging 4 . However, similar to our patient, dermatologic manifestation such as xanthomas may be the only presenting feature of sitosterolemia, and clinical suspicion must be high in order to recognize the condition 13 .…”

Section: Discussionmentioning

confidence: 51%

“…It is caused by homozygous or compound heterozygous variants in either ABCG5 or ABCG8 , which encode the subunits of sterolin, the sterol efflux transporter that pumps sterols out to the intestinal lumen or into bile 2,3 . Loss of function of this transporter leads to increased intestinal absorption and decreased biliary excretion of all dietary sterols and thus to progressive accumulation of sterols 4 …”

Section: Introductionmentioning

confidence: 99%

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Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia

et al. 2020

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Sitosterolemia is an extremely rare autosomal recessive disease caused by mutations in either ABCG5 or ABCG8, which encode for a sterol efflux transporter (sterolin) that pumps sterols out into the intestinal lumen or into bile. This leads to progressive accumulation of plant sterols in blood and tissues. Clinical presentation is variable and may include xanthoma, arthritis, thyroid dysfunction, premature atherosclerotic disease, splenomegaly, and hematologic manifestations. We report a child presented with multiple xanthomas at age 5.5 years, located on the elbow, knee, and toe. Juvenile xanthogranuloma was considered based on histopathologic findings. At 8 years of age, a lipid profile showed markedly elevated total cholesterol (9.4 mmol/L) and low‐density lipoprotein cholesterol (LDL‐C, 7.4 mmol/L). Simvastatin therapy was initiated, however, the lipid profile was persistently abnormal. At age 8.5 years, genetic testing identified two novel variants: (NM_022437.3[ABCG8]:c.1444del;p.Leu482Trpfs*40) and (NM_022437.3[ABCG8]:c.1640T>C;p.Leu547Pro) in the ABCG8 gene. Plasma sitosterol was subsequently found to be very high, confirming the diagnosis. She was started on a low plant sterol and cholesterol diet for 6 weeks with insignificant response and therefore ezetimibe (10 mg daily) was added. This resulted in significant reduction of cholesterol, LDL, sitosterol levels, and no further increase in the size of the xanthomas. This case emphasizes the diagnostic odyssey, the benefits of genomic testing and importance of a correct diagnosis in order to initiate appropriate therapy. It also illustrates the importance of considering rare conditions, such as sitosterolemia, as a differential diagnosis in patients with hypercholesterolemia and increased LDL‐C.

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Section: Discussionmentioning

confidence: 51%

Section: Introductionmentioning

confidence: 99%

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia

et al. 2020

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“…Some patients with the homozygous mutation may die of cardiac diseases because of accelerated atherosclerosis caused by severe hypercholesterolemia, 4,5 whereas some may show no symptoms at all, and others may exhibit almost exclusively hematological manifestations such as giant platelets, splenomegaly, and abnormal bleeding. 6 However, individuals with sitosterolemia commonly primarily present with tendinous, tuberous [7][8][9][10][11] or plane 11 xanthomas at very young age, on extensor surfaces such as the wrist, extensor tendons of the hands, Achilles tendon, and knee. Moreover, the clinical signs of sitosterolemia may precede the introduction of plants to the diet, because breast milk contains trace quantities of phytosterols.…”

Section: Discussionmentioning

confidence: 99%

Foamy Cell Histiocytosis Is a Diagnostic Pitfall: A Case Report of Xanthomatosis Secondary to Sitosterolemia Mimicking Progressive Nodular Histiocytosis

Garrido¹,

Torres

Lorenzo

et al. 2022

The American Journal of Dermatopathology

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:We report a noteworthy case of a 10-year-old girl who presented with papular and nodular lesions on the skin that were clinically and histologically mistaken for progressive nodular histiocytosis. During the clinical management of the patient, the high lipid levels raised the suspicion of lipid metabolism disease and helped us to make the correct diagnosis of sitosterolemia. In sitosterolemia, proper management such as restriction of plant sterol intake and administration of cholesterol absorption inhibitor can improve prognosis.

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“…Ezetimibe has been shown to reduce levels of total cholesterol and plant sterols in sitosterolaemia. 3 In some cases, treatment with Ezetimibe has significantly reduced xanthomas 4 and improved platelet count. 3 Thus, early initiation of treatment and compliance seem important in order to reduce symptoms and prevent CVD.…”

Section: Discussionmentioning

confidence: 99%

“… 3 However, recommendations are based on low level of evidence. 4 , 5 This report describes a young female with symptoms of sitosterolaemia, who was misdiagnosed during her childhood leading to a high symptomatic burden.…”

Section: Introductionmentioning

confidence: 98%

Seventeen years of misdiagnosis in rare dyslipidaemia: a case report of sitosterolaemia in a young female

Frederiksen

Mortensen

Kanstrup

2021

European Heart Journal - Case Reports

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Background Sitosterolaemia is a rare, autosomal recessive dyslipidaemia with increased absorption of dietary plant sterol and often presents with hypercholesterolaemia, xanthomas, and haematologic manifestations. If left untreated, sitosterolaemia can lead to high symptomatic burden and coronary artery disease (CAD). Case summary We describe a case of a young female who initially presented at 4 years of age with classic manifestations of sitosterolaemia. She was misdiagnosed and treated for both juvenile arthritis and later familial hypercholesterolaemia until adulthood, when venous blood samples showed significantly elevated concentrations of plant sterols. DNA analyses showed that the patient was homozygous for a mutation in the ABCG5 gene, [c.1336C>T, p.(Arg446*)], which is known to be associated with sitosterolaemia. Discussion Sitosterolaemia presents with multiple manifestations, which can initially be misinterpreted leading to prolonged misdiagnosis. Early diagnosis is key in order to relieve symptoms and prevent CAD.

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Sitosterolemia—10 years observation in two sisters

Cited by 11 publications

References 34 publications

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia

Foamy Cell Histiocytosis Is a Diagnostic Pitfall: A Case Report of Xanthomatosis Secondary to Sitosterolemia Mimicking Progressive Nodular Histiocytosis

Seventeen years of misdiagnosis in rare dyslipidaemia: a case report of sitosterolaemia in a young female

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