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Sitosterolemia

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Overview

Sitosterolemia, also known as phytosterolemia, is a rare autosomal recessive disorder of lipid metabolism characterized by markedly elevated levels of plant sterols (such as sitosterol, campesterol, and stigmasterol) in the blood and tissues. This accumulation leads to clinical manifestations including tendon and tuberous xanthomas, premature coronary atherosclerosis, and potentially hemolytic anemia and thrombocytopenia. Given its rarity, with an estimated prevalence of 1 in 1,000,000 to 5,000,000 individuals 1, early recognition is crucial to prevent severe cardiovascular complications. Understanding and promptly diagnosing sitosterolemia are essential in day-to-day practice to mitigate long-term health risks and improve patient outcomes 14.

Pathophysiology

Sitosterolemia arises from pathogenic mutations in the ABCG5 or ABCG8 genes, which encode half-transporters that form a functional heterodimer (ABCG5/G8) responsible for sterol efflux from enterocytes and hepatocytes 23. Under normal conditions, the ABCG5/G8 complex facilitates the excretion of plant sterols into the bile and intestinal lumen, minimizing their absorption. However, mutations in these genes impair this efflux mechanism, leading to systemic accumulation of phytosterols 25. This accumulation triggers inflammatory responses, promoting foam cell formation and lipid plaque development, particularly in arterial walls 6. Additionally, phytosterols can deposit in various tissues, including skin, tendons, and bone membranes, contributing to the characteristic xanthomas and other clinical symptoms 7.

Epidemiology

The global prevalence of sitosterolemia is estimated to be between 1 in 1,000,000 and 5,000,000 individuals, with approximately 200 cases reported worldwide 1. The condition exhibits no significant sex predilection, but geographic variations exist; for instance, mutations in ABCG5 are more common in Asian populations, whereas ABCG8 mutations are more prevalent in Caucasians 35. Incidence rates can vary, with some studies suggesting underreporting due to diagnostic challenges 25. Over time, there has been an increasing recognition of sitosterolemia, partly due to advancements in genetic testing and heightened clinical awareness 118.

Clinical Presentation

Patients with sitosterolemia typically present with a constellation of symptoms including:
  • Tendon and tuberous xanthomas: Often appearing early in life and progressing with age 14.
  • Premature coronary atherosclerosis: Increasing risk of cardiovascular events due to sterol accumulation in arterial walls 6.
  • Hematologic manifestations: Such as thrombocytopenia and hemolytic anemia, which can precede lipid-related symptoms 713.
  • Other symptoms: May include arthralgia, splenomegaly, and nonspecific gastrointestinal symptoms 48.

    • Red-flag features include unexplained thrombocytopenia, recurrent thrombotic events, and rapid progression of xanthomas, which should prompt urgent evaluation for sitosterolemia 1317.

    Diagnosis

    The diagnosis of sitosterolemia involves a combination of clinical evaluation and specific laboratory tests:
  • Clinical suspicion: Based on presence of xanthomas, premature atherosclerosis, and hematologic abnormalities.
  • Serum phytosterol levels: Elevated levels of sitosterol, campesterol, and stigmasterol are hallmark findings. Typically, sitosterol levels > 400 ng/mL and campesterol levels > 2000 ng/mL are indicative 220.
  • Genetic testing: Identification of pathogenic variants in ABCG5 or ABCG8 genes confirms the diagnosis 1319.

    • Diagnostic Criteria:

  • Serum phytosterol profile:
    • - Sitosterol > 400 ng/mL - Campesterol > 2000 ng/mL
  • Genetic analysis:
    • - Identification of biallelic mutations in ABCG5 or ABCG8
  • Differential Diagnosis:
    • - Familial Hypercholesterolemia (FH): Lower LDL cholesterol levels and absence of elevated phytosterols. - Cerebrotendinous Xanthomatosis (CTX): Presence of cerebrotendinous xanthomas and specific bile acid abnormalities. - Hereditary Haemochromatosis: Elevated ferritin and transferrin saturation, not phytosterol elevation 427.

    Differential Diagnosis

  • Familial Hypercholesterolemia (FH): Distinguished by normal or near-normal phytosterol levels and higher LDL cholesterol levels.
  • Cerebrotendinous Xanthomatosis (CTX): Characterized by cerebrotendinous xanthomas and specific bile acid abnormalities, unlike the phytosterol profile in sitosterolemia.
  • Hereditary Haemochromatosis: Identified by elevated ferritin and transferrin saturation, without the hallmark phytosterol elevations 427.

    • Management

    First-Line Management

  • Dietary modifications: Strict restriction of dietary plant sterols (e.g., avoidance of nuts, seeds, oils, and grains rich in sterols) 420.
  • Statins: Initiate with moderate-intensity statins (e.g., atorvastatin 20-40 mg daily) to manage cholesterol levels 420.

    • Monitoring:

  • Regular assessment of serum phytosterol levels every 3-6 months.
  • Lipid profile monitoring every 6 months.

    • Second-Line Management

  • Ezetimibe: Addition of ezetimibe (10 mg daily) if statin therapy alone is insufficient 420.
  • Bile acid sequestrants: Consideration of cholestyramine or colesevelam to further reduce cholesterol absorption 420.

    • Monitoring:

  • Continue monitoring serum phytosterols and lipid profiles every 3-6 months.
  • Assess for side effects of medications.

    • Refractory or Specialist Escalation

  • Liver transplantation: In cases with severe complications unresponsive to medical management 27.
  • Consultation with lipid specialists: For tailored management strategies and advanced therapeutic options 420.

    • Monitoring:

  • Close follow-up with multidisciplinary teams including cardiologists, hematologists, and geneticists.
  • Regular imaging studies to monitor cardiovascular health.

    • Complications

    Acute Complications

  • Thrombotic events: Increased risk due to accelerated atherosclerosis.
  • Hemolytic anemia: Can be severe and require immediate intervention 713.

    • Long-Term Complications

  • Premature cardiovascular disease: Including myocardial infarction and stroke.
  • Chronic kidney disease: Potential due to vascular complications.
  • Progressive xanthomatosis: Leading to joint and tendon issues 611.

    • Management Triggers:

  • Elevated inflammatory markers.
  • Sudden changes in platelet counts or hemoglobin levels.
  • Development of new cardiovascular symptoms.

    • Prognosis & Follow-Up

    The prognosis of sitosterolemia varies based on early diagnosis and adherence to management strategies. Key prognostic indicators include:
  • Timeliness of diagnosis: Early intervention can significantly mitigate cardiovascular risks.
  • Compliance with dietary restrictions and medication: Essential for controlling phytosterol levels and preventing complications.
  • Regular monitoring: Ensuring timely adjustments in treatment plans.

    • Recommended Follow-Up Intervals:

  • Serum phytosterols and lipid profile: Every 3-6 months initially, then annually if stable.
  • Cardiac evaluation: Including ECGs and echocardiograms annually.
  • Complete blood count (CBC): Every 6 months to monitor for hematologic complications.

    • Special Populations

    Pediatrics

  • Early onset: Symptoms like xanthomas can appear in childhood.
  • Growth monitoring: Regular assessments to ensure adequate nutrition despite dietary restrictions 828.

    • Elderly

  • Increased cardiovascular risk: More susceptible to complications like atherosclerosis.
  • Polypharmacy considerations: Careful management of multiple medications to avoid interactions 427.

    • Ethnic Variations

  • Asian populations: Higher prevalence of ABCG5 mutations 35.
  • Genetic counseling: Important for families with known mutations 119.

    • Key Recommendations

  • Genetic testing for ABCG5 and ABCG8 mutations in patients with unexplained xanthomas, premature atherosclerosis, and hematologic abnormalities (Evidence: Strong 1319).
  • Serum phytosterol levels should be measured to confirm diagnosis, with sitosterol > 400 ng/mL and campesterol > 2000 ng/mL being diagnostic thresholds (Evidence: Strong 220).
  • Strict dietary restriction of plant sterols is essential for all patients (Evidence: Moderate 420).
  • Initiate statin therapy (e.g., atorvastatin 20-40 mg daily) as first-line pharmacological management (Evidence: Moderate 420).
  • Regular monitoring of serum phytosterols and lipid profiles every 3-6 months is crucial (Evidence: Moderate 420).
  • Consider ezetimibe (10 mg daily) if lipid targets are not met with statins alone (Evidence: Moderate 420).
  • Multidisciplinary follow-up including cardiologists, hematologists, and geneticists is recommended for comprehensive care (Evidence: Expert opinion 427).
  • Early referral for liver transplantation in cases with severe, refractory complications (Evidence: Weak 27).
  • Genetic counseling for families with identified mutations to guide future pregnancies (Evidence: Expert opinion 119).
  • Annual cardiac evaluations including ECGs and echocardiograms for elderly patients to monitor cardiovascular health (Evidence: Moderate 427).

    • References

    1 Wu LL, Zhang L, Tang TT, Zhou YY, Chang XX, Guo W et al.. Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report. Journal of medical case reports 2026. link 2 Nakano T, Takashima E, Yu L. Factors Affecting Circulating Phytosterol Levels: Toward an Integrated Understanding of Atherogenicity and Atheroprotection by Dietary and Circulating Phytosterols. Current atherosclerosis reports 2025. link 3 Sun X, Wu J, Chen P, He R, Li T, Zeng Q et al.. Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature. Journal of medical case reports 2025. link 4 Leão FAA, Silveira LFG, Arantes RR, Guimarães MMM. Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report. Archives of endocrinology and metabolism 2025. link 5 Gamage D, Chisholm K, Kilo T, Ooi SE, Srinivasan S. Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia. Journal of paediatrics and child health 2025. link 6 Li F, Xie X, Xu S, Zhou F, Yu Y, Fang X et al.. Cerebral involvement in sitosterolemia. Lipids in health and disease 2024. link 7 Del Castillo J, Tool ATJ, van Leeuwen K, van Alphen FPJ, Brands MM, Suijker MH et al.. Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations. Blood advances 2024. link 8 Gu R, Wang H, Wang CL, Lu M, Miao M, Huang MN et al.. Gene variants and clinical characteristics of children with sitosterolemia. Lipids in health and disease 2024. link 9 Terasaki M, Izumi M, Yamagishi SI. A Clinical Case of Probable Sitosterolemia. International journal of molecular sciences 2024. link 10 Wu SF, Xu ZY, Xie LJ, Chen L, Ye Y, Wang XL et al.. Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2026. link 11 Burke E, O'Meara M, McGrath N, Griffin D. Sitosterolemia Presenting as Lipid Keratopathy and Xanthomas. Pediatrics 2026. link 12 Alves AC, Chora JR, Miranda B, Medeiros AM, Graça R, Bañares VG et al.. Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis. Journal of clinical lipidology 2025. link 13 Patel PS, Paknikar S, Simha V. Chronic thrombocytopenia as a marker for early detection of sitosterolemia. Journal of clinical lipidology 2025. link 14 Gambichler T, Weyer-Fahlbusch SS, Schaller J, Sanchez-Martinez E, Dengler S, Fidorra S et al.. Long-Standing Bilateral Adult-Onset Orbital Xanthogranuloma With Unique Histologic Findings Uncovering the Diagnosis of Sitosterolemia. The American Journal of dermatopathology 2025. link 15 Umapathy V, Rm S. Sitosterolemia: Case Series of a Rare Genetic Disorder from India. The Journal of the Association of Physicians of India 2025. link 16 Uzunyayla G, Erdem-Karapinar F, İşat E, Cansever MŞ. Isolated thrombocytopenia as an atypical presentation of sitosterolemia in a school-aged child. Journal of clinical lipidology 2025. link 17 Coutinho JGV, Costa ACS, Issa MMM, Paim NP, Quedas EPS, Nunes VS et al.. Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up. Journal of clinical lipidology 2025. link 18 Wu H, Xu Y, Cheng R, Zhou H, Li Y, Lu Z et al.. Global trends in sitosterolemia research: A bibliometric and visualization analysis. Journal of clinical lipidology 2025. link 19 Naeem WB, Khan MA, Akram Z, Afridi TUK, Khattak TA, Khan MA et al.. Identification of a homozygous variant in ABCG5 by panel sequencing in a Pakistani family with sitosterolemia: Genotype-phenotype correlation and management considerations. Journal of clinical lipidology 2025. link 20 Ren X, Zhang J, Wang L, Zhang Y, Li J, Yu H et al.. Evaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects. Journal of clinical lipidology 2025. link 21 Kwon GE, Son HH, Moon JY, Lee A, Jung MK, Rhie S et al.. Dried blood spot-based free sterol signatures in sitosterolemia diagnostics. Clinica chimica acta; international journal of clinical chemistry 2024. link 22 Jurado Tapiador R, González P, Hernandez-Rodriguez I. Late diagnosis of sitosterolemia in an adult case with unexplained hemolytic anemia. International journal of laboratory hematology 2024. link 23 Ratliff CR. Patient With Sitosterolemia With Slow Healing Sternal Wound From Coronary Artery Bypass Surgery. Journal of wound, ostomy, and continence nursing : official publication of The Wound, Ostomy and Continence Nurses Society 2024. link 24 Castellanos AA, Castillo MDC, Montoya L, Ruiz ME, Zapateiro JL, Nogueira JP. Family sitosterolemia: report of two cases in Colombia. Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2024. link 25 Bydlowski SP, Levy D. Association of ABCG5 and ABCG8 Transporters with Sitosterolemia. Advances in experimental medicine and biology 2024. link 26 Jiang W, Xu Y, Fu Z, Hu M, Wu Q, Ji Y et al.. Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease. Gene 2023. link 27 Rocha VZ, Tada MT, Chacra APM, Miname MH, Mizuta MH. Update on Sitosterolemia and Atherosclerosis. Current atherosclerosis reports 2023. link 28 Wu M, Pei Z, Sun W, Wu H, Sun Y, Wu B et al.. Age-related reference intervals for serum phytosterols in children by gas chromatography-mass spectrometry and its application in diagnosing sitosterolemia. Clinica chimica acta; international journal of clinical chemistry 2023. link 29 Zhang J, Chen QL, Guo S, Li YH, Li C, Zheng RJ et al.. Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation. Lipids in health and disease 2022. link 30 Tada H, Kojima N, Takamura M, Kawashiri MA. Sitosterolemia. Advances in clinical chemistry 2022. link 31 Garrido MC, Torres MP, Lorenzo LG, Gil M, Milla CP, Rodriguez-Peralto JL et al.. Foamy Cell Histiocytosis Is a Diagnostic Pitfall: A Case Report of Xanthomatosis Secondary to Sitosterolemia Mimicking Progressive Nodular Histiocytosis. The American Journal of dermatopathology 2022. link 32 Tada MT, Rocha VZ, Lima IR, Oliveira TGM, Chacra AP, Miname MH et al.. Screening of . Circulation. Genomic and precision medicine 2022. link 33 Tada H, Kojima N, Yamagami K, Takamura M, Kawashiri MA. Clinical and genetic features of sitosterolemia in Japan. Clinica chimica acta; international journal of clinical chemistry 2022. link 34 Gok V, Tada H, Ensar Dogan M, Alakus Sari U, Aslan K, Ozcan A et al.. A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia. Clinica chimica acta; international journal of clinical chemistry 2022. link 35 Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y et al.. Features of chinese patients with sitosterolemia. Lipids in health and disease 2022. link 36 Xia Y, Duan Y, Zheng W, Liang L, Zhang H, Luo X et al.. Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia. Journal of clinical lipidology 2022. link 37 Qin M, Luo P, Wen X, Li J. Misdiagnosis of sitosterolemia in a patient as Evans syndrome and familial hypercholesterolemia. Journal of clinical lipidology 2022. link 38 Okafor LO, Bowyer J, Thaung C, Murphy E, Verity DH. Orbital involvement of Sitosterolemia. Orbit (Amsterdam, Netherlands) 2022. link 39 Kaya Z, Sal E, Yorulmaz A, Hsieh YP, Gülen H, Yıldırım AT et al.. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients. Journal of clinical lipidology 2021. link 40 Tada H, Nomura A, Ogura M, Ikewaki K, Ishigaki Y, Inagaki K et al.. Diagnosis and Management of Sitosterolemia 2021. Journal of atherosclerosis and thrombosis 2021. link 41 Williams K, Segard A, Graf GA. Sitosterolemia: Twenty Years of Discovery of the Function of . International journal of molecular sciences 2021. link 42 Fong V, Patel SB. Recent advances in ABCG5 and ABCG8 variants. Current opinion in lipidology 2021. link 43 Xavier BM, Zein AA, Venes A, Wang J, Lee JY. Transmembrane Polar Relay Drives the Allosteric Regulation for ABCG5/G8 Sterol Transporter. International journal of molecular sciences 2020. link 44 Lee JH, Song DY, Jun SH, Song SH, Shin CH, Ki CS et al.. High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence. PloS one 2020. link 45 Tanaka H, Watanabe Y, Hirano S, Tada H, Nomura A, Kawashiri MA et al.. Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab. Internal medicine (Tokyo, Japan) 2020. link 46 Nakano Y, Komiya C, Shimizu H, Mishima H, Shiba K, Tsujimoto K et al.. A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5. Endocrine journal 2020. link 47 Sun W, Zhang T, Zhang X, Wang J, Chen Y, Long Y et al.. Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia. The journal of gene medicine 2020. link 48 Xu L, Wen W, Yang Y, Xie J, Li R, Wu Y et al.. Features of Sitosterolemia in Children. The American journal of cardiology 2020. link 49 Yoshida H, Tada H, Ito K, Kishimoto Y, Yanai H, Okamura T et al.. Reference Intervals of Serum Non-Cholesterol Sterols by Gender in Healthy Japanese Individuals. Journal of atherosclerosis and thrombosis 2020. link 50 Zein AA, Kaur R, Hussein TOK, Graf GA, Lee JY. ABCG5/G8: a structural view to pathophysiology of the hepatobiliary cholesterol secretion. Biochemical Society transactions 2019. link 51 Huang D, Zhou Q, Chao YQ, Zou CC. Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review. Medicine 2019. link 52 Su X, Shao Y, Lin Y, Zhao X, Zhang W, Jiang M et al.. Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review. Journal of clinical lipidology 2019. link 53 Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR. Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management. Current medicinal chemistry 2019. link 54 Tada H, Nomura A, Yamagishi M, Kawashiri MA. First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes. Journal of clinical lipidology 2018. link 55 Tada H, Nomura A, Nohara A, Inazu A, Mabuchi H, Yamagishi M et al.. Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia. Journal of atherosclerosis and thrombosis 2018. link 56 Nomura A, Tada H, Nohara A, Kawashiri MA, Yamagishi M. Oral Fat Tolerance Test for Sitosterolemia and Familial Hypercholesterolemia: A Study Protocol. Journal of atherosclerosis and thrombosis 2018. link 57 Yagasaki H, Nakane T, Toda T, Kobayashi K, Aoyama K, Ichikawa T et al.. Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene. Journal of pediatric endocrinology & metabolism : JPEM 2017. link 58 Bardawil T, Rebeiz A, Chaabouni M, El Halabi J, Kambris Z, Abbas O et al.. Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form. European journal of dermatology : EJD 2017. link 59 Bastida JM, Benito R, Janusz K, Díez-Campelo M, Hernández-Sánchez JM, Marcellini S et al.. Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. Journal of thrombosis and haemostasis : JTH 2017. link 60 Othman RA, Myrie SB, Mymin D, Roullet JB, DeBarber AE, Steiner RD et al.. Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe. The Journal of pediatrics 2017. link 61 Tzavella E, Hatzimichael E, Kostara C, Bairaktari E, Elisaf M, Tsimihodimos V. Sitosterolemia: A multifaceted metabolic disorder with important clinical consequences. Journal of clinical lipidology 2017. link 62 Buonuomo PS, Iughetti L, Pisciotta L, Rabacchi C, Papadia F, Bruzzi P et al.. Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. Atherosclerosis 2017. link 63 Othman RA, Myrie SB, Mymin D, Roullet JB, Steiner RD, Jones PJH. Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia. Atherosclerosis 2017. link 64 Yamamoto T, Matsuda J, Dateki S, Ouchi K, Fujimoto W. Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia. The Journal of dermatology 2016. link 65 Renner C, Connor WE, Steiner RD. Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia. Clinical medicine & research 2016. link 66 Colima Fausto AG, González García JR, Wong Ley Madero LE, Magaña Torres MT. Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia. Journal of clinical lipidology 2016. link 67 Ajagbe BO, Othman RA, Myrie SB. Plant Sterols, Stanols, and Sitosterolemia. Journal of AOAC International 2015. link 68 Othman RA, Myrie SB, Mymin D, Merkens LS, Roullet JB, Steiner RD et al.. Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. The Journal of pediatrics 2015. link 69 Melenotte C, Carrié A, Serratrice J, Weiller PJ. Sitosterolemia: a new mutation in a Mediterranean patient. Journal of clinical lipidology 2014. link 70 Hu M, Yuen YP, Kwok JS, Griffith JF, Tomlinson B. Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia. Journal of atherosclerosis and thrombosis 2014. link 71 Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F. Sitosterolemia: diagnosis, investigation, and management. Current atherosclerosis reports 2014. link 72 Patel SB. Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology. Current opinion in lipidology 2014. link 73 Park JH, Chung IH, Kim DH, Choi MH, Garg A, Yoo EG. 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    Original source

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      Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report. — Wu LL, Zhang L, Tang TT, Zhou YY, Chang XX, Guo W et al. Journal of medical case reports (2026)
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      Factors Affecting Circulating Phytosterol Levels: Toward an Integrated Understanding of Atherogenicity and Atheroprotection by Dietary and Circulating Phytosterols. — Nakano T, Takashima E, Yu L Current atherosclerosis reports (2025)
    3. [3]
      Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature. — Sun X, Wu J, Chen P, He R, Li T, Zeng Q et al. Journal of medical case reports (2025)
    4. [4]
      Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report. — Leão FAA, Silveira LFG, Arantes RR, Guimarães MMM Archives of endocrinology and metabolism (2025)
    5. [5]
      Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia. — Gamage D, Chisholm K, Kilo T, Ooi SE, Srinivasan S Journal of paediatrics and child health (2025)
    6. [6]
      Cerebral involvement in sitosterolemia. — Li F, Xie X, Xu S, Zhou F, Yu Y, Fang X et al. Lipids in health and disease (2024)
    7. [7]
      Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations. — Del Castillo J, Tool ATJ, van Leeuwen K, van Alphen FPJ, Brands MM, Suijker MH et al. Blood advances (2024)
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      Gene variants and clinical characteristics of children with sitosterolemia. — Gu R, Wang H, Wang CL, Lu M, Miao M, Huang MN et al. Lipids in health and disease (2024)
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      A Clinical Case of Probable Sitosterolemia. — Terasaki M, Izumi M, Yamagishi SI International journal of molecular sciences (2024)
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      Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation. — Wu SF, Xu ZY, Xie LJ, Chen L, Ye Y, Wang XL et al. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (2026)
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      Sitosterolemia Presenting as Lipid Keratopathy and Xanthomas. — Burke E, O'Meara M, McGrath N, Griffin D Pediatrics (2026)
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      Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis. — Alves AC, Chora JR, Miranda B, Medeiros AM, Graça R, Bañares VG et al. Journal of clinical lipidology (2025)
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      Chronic thrombocytopenia as a marker for early detection of sitosterolemia. — Patel PS, Paknikar S, Simha V Journal of clinical lipidology (2025)
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      Long-Standing Bilateral Adult-Onset Orbital Xanthogranuloma With Unique Histologic Findings Uncovering the Diagnosis of Sitosterolemia. — Gambichler T, Weyer-Fahlbusch SS, Schaller J, Sanchez-Martinez E, Dengler S, Fidorra S et al. The American Journal of dermatopathology (2025)
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      Sitosterolemia: Case Series of a Rare Genetic Disorder from India. — Umapathy V, Rm S The Journal of the Association of Physicians of India (2025)
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      Isolated thrombocytopenia as an atypical presentation of sitosterolemia in a school-aged child. — Uzunyayla G, Erdem-Karapinar F, İşat E, Cansever MŞ Journal of clinical lipidology (2025)
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      Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up. — Coutinho JGV, Costa ACS, Issa MMM, Paim NP, Quedas EPS, Nunes VS et al. Journal of clinical lipidology (2025)
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      Global trends in sitosterolemia research: A bibliometric and visualization analysis. — Wu H, Xu Y, Cheng R, Zhou H, Li Y, Lu Z et al. Journal of clinical lipidology (2025)
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      Identification of a homozygous variant in ABCG5 by panel sequencing in a Pakistani family with sitosterolemia: Genotype-phenotype correlation and management considerations. — Naeem WB, Khan MA, Akram Z, Afridi TUK, Khattak TA, Khan MA et al. Journal of clinical lipidology (2025)
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      Evaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects. — Ren X, Zhang J, Wang L, Zhang Y, Li J, Yu H et al. Journal of clinical lipidology (2025)
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      Dried blood spot-based free sterol signatures in sitosterolemia diagnostics. — Kwon GE, Son HH, Moon JY, Lee A, Jung MK, Rhie S et al. Clinica chimica acta; international journal of clinical chemistry (2024)
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      Late diagnosis of sitosterolemia in an adult case with unexplained hemolytic anemia. — Jurado Tapiador R, González P, Hernandez-Rodriguez I International journal of laboratory hematology (2024)
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      Patient With Sitosterolemia With Slow Healing Sternal Wound From Coronary Artery Bypass Surgery. — Ratliff CR Journal of wound, ostomy, and continence nursing : official publication of The Wound, Ostomy and Continence Nurses Society (2024)
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      Family sitosterolemia: report of two cases in Colombia. — Castellanos AA, Castillo MDC, Montoya L, Ruiz ME, Zapateiro JL, Nogueira JP Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis (2024)
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      Association of ABCG5 and ABCG8 Transporters with Sitosterolemia. — Bydlowski SP, Levy D Advances in experimental medicine and biology (2024)
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