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sitosterolemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sitosterolemia

MONDO:0008863

Also known as:phytosterolemiaSTSLmacrothrombocytopenia/stomatocytosis, Mediterranean

Overview

A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Xanthomatosis, Enlarged spleen (splenomegaly), Red blood cell destruction (hemolytic anemia), and Giant platelets and others; and sometimes findings: Aortic valve stenosis and Arthralgia/arthritis.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Enlarged spleen (splenomegaly), Red blood cell destruction (hemolytic anemia), Giant platelets

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal diagnostic criteria for sitosterolemia have not been established.

Suggestive Findings

Sitosterolemia should be suspected in individuals with the following:

Source: GeneReviews — "Sitosterolemia"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for sitosterolemia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Sitosterolemia

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5.

Recommended Annual Surveillance for Individuals with Sitosterolemia

System/Concern | Evaluation

Plant sterol levels

| • Plasma concentrations of plant sterols (primarily beta-sitosterol campesterol) cholesterol

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for sitosterolemia.

75 publications have been identified in PubMed for sitosterolemia. Research spans Case Report / Case Series (61%), Review / Meta-Analysis (11%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Patient case studies	46	61%

Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 7:25 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:101022 Orphanet:2882

GARD

Genetic and Rare Diseases Info Center

GARD:7653

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Differential Diagnosis

Hereditary Disorders in the Differential Diagnosis of Sitosterolemia Table 2. Genes of Interest in the Differential Diagnosis of Sitosterolemia

Gene(s)	DiffDx Disorder	MOI	Features of DiffDx Disorder
ABCA1	Tangier disease (analphalipoproteinemia)	AR	Stomatocytosis
PCSK9	Familial hypercholesterolemia1 (also called heterozygous FH)	AD	Xanthomas in children
Not assoc w/macro-thrombocytopenia Homozygous FH2	AD	Xanthomas in children	Both parents of affected child have hypercholesterolemia.; LDL-C levels are generally 500 mg/dL in untreated adults (levels can be lower in children).; Not assoc w/macro-thrombocytopenia CYP27A1
Cerebrotendinous xanthomatosis	AR	Xanthomas in children	concentrations of plasma cholestanol, childhood-onset protracted diarrhea, cataracts; Typically, neurologic involvment in affected adults
LCAT	Lecithin-cholesterol aceyl transferase (LCAT) deficiency (OMIM 245900)	AR	Stomatocytosis

Source: GeneReviews — "Sitosterolemia"

Kisho

sitosterolemia

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Plant sterol levels

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Hematologic abnormalities

Liver function

Recent Publications

Latest News & Developments

Sitosterolemia presenting as unexplained cytopenias: hematologic manifestations and genetic spectrum.

Sitosterolemia: evolving strategies for earlier diagnosis.

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.

sitosterolemia

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Plant sterol levels

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Hematologic abnormalities

Liver function

Recent Publications

Latest News & Developments

Sitosterolemia presenting as unexplained cytopenias: hematologic manifestations and genetic spectrum.

Sitosterolemia: evolving strategies for earlier diagnosis.

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.