Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

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

Features include very common findings: Fat malabsorption, Acanthocytosis, Nervous system problems (abnormality of the nervous system), and Steatorrhea and others; and common findings: Progressive visual loss, Color vision defect, Nyctalopia, and Areflexia and others. 68 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	10	Fat malabsorption, Chronic diarrhea, Low HDL ("good") cholesterol (decreased hdl cholesterol concentration)
Brain and nerves	7	Ataxia, Nervous system problems (abnormality of the nervous system), Dysarthria
Eyes	7	Retinal degeneration, Damage to the retina (retinopathy), Color vision defect
Blood and immune system	3	Low red blood cell count (anemia), Increased immature red blood cells (reticulocytosis), Abnormal bleeding tendency (abnormal bleeding)
Muscles	3	Myalgia, Myopathy, Distal lower limb muscle weakness
Lab test results	2	Hyperbilirubinemia, Elevated circulating hepatic transaminase concentration
Bones and joints	2	Mild bone density loss (osteopenia), Kyphoscoliosis
Heart and blood vessels	2	Congestive heart failure, Enlarged heart (cardiomegaly)
Growth and development	1	Failure to thrive
Arms and legs	1	Distal lower limb muscle weakness
Hormones	1	Hypothyroidism
Lungs and breathing	1	Respiratory failure

GeneReviews

Clinical Guidance

Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. The absence of apo B-containing lipoproteins and resulting deficiency of fat-soluble vitamins lead to multisystem manifestations as the affected individual ages. Gastrointestinal. Steatorrhea is the primary gastrointestinal manifestation. The severity relates to the fat content of the diet.

Source: GeneReviews — "Abetalipoproteinemia"

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

No formal clinical diagnostic criteria for abetalipoproteinemia have been published.

Suggestive Findings

Classic abetalipoproteinemia presents from birth with failure to thrive, severe diarrhea and vomiting, and malabsorption of fat. Abetalipoproteinemia should be suspected in children with the following clinical and supportive laboratory findings .

Clinical features

Failure to thrive, with diarrhea and vomiting
Fat malabsorption with steatorrhea
Hepatomegaly
Loss of night and/or color vision
Acquired atypical pigmentation of the retina
Spinocerebellar ataxia and myopathy

Supportive laboratory findings

Source: GeneReviews — "Abetalipoproteinemia"

GeneReviews

Differential Diagnosis

Table 2. Disorders to Consider in the Differential Diagnosis of Abetalipoproteinemia

Differential Disorder	Gene	MOI	Clinical Features of Differential Disorder
APOB	AR	Clinical features are indistinguishable.	Only distinguishing feature: lipid levels in heterozygotes. Obligate heterozygote parents have:; Normal lipid levels in abetalipoproteinemia;; LDL-cholesterol levels 50% of normal in hypobetalipoproteinemia. Chylomicron retention disease
SAR1B

Genetic testing for MTTP is available. Testing is considered confirmatory for diagnosis.

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 abetalipoproteinemia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with abetalipoproteinemia, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Abetalipoproteinemia

System/Concern	Evaluation	Comment
General	Growth parameters	To assess for poor growth Gastrointestinal
Hematologic	Complete blood count	To evaluate for anemia /or hemolysis INR
Ophthalmologic	Referral to ophthalmologist	For eval of visual acuity pigmentary retinopathy
Neurologic	Referral to neurologist	If evidence of neurologic abnormality (e.g., ataxia, loss of deep tendon reflexes)
Endocrinologic	Thyroid stimulating hormone (TSH)	While thyroid function is not typically abnormal, TSH should be evaluated at least once.
Other	Consultation w/clinical geneticist /or genetic counselor	HDL = high-density lipoprotein; INR = international normalized ratio; LDL = low-density lipoprotein Treatment of Manifestations The following treatment is recommended for abetalipoproteinemia to address symptoms and prevent complications . Table 4.
Treatment of Manifestations in Individuals with Abetalipoproteinemia Manifestation/Concern	Treatment	Considerations/Other
Growth deficiency	Ensure adequate caloric intake.1	Consider referral to nutritionist.
Steatorrhea	Low-fat diet (10%-20% of total calories)2	Total fat intake of 20% is not likely to be tolerated. Oral essential fatty acid supplementation
Steatotic liver w/o fibrosis	Restriction of dietary fat	Because fatty liver develops w/o active inflammation, no need for anti-inflammatory treatment Hepatic fibrosis
/or cirrhosis	Liver transplantation may be considered.3	A very rare complication, esp w/early diagnosis treatment Deficiency of fat-soluble vitamins
Anemia	Mild anemia typically requires no treatment; occasionally vitamin B12 or iron is given in addition to fat-soluble vitamins.	—
Increased INR	Vitamin K supplementation (See above.)	Abnormal visual
acuity	Vitamin A supplementation can arrest progression of visual impairment prevent development of eye complications.	—
Dysarthria	Speech language therapy	W/early vitamin E supplementation dysarthria is rare. Ataxia
Hypothyroidism	Standard treatment w/thyroid hormone replacement	INR = international normalized ratio; OT = occupational therapist; PT = physical therapist With proper treatment, a normal growth velocity can be achieved in affected persons; however, affected persons may not meet their full growth potential, even after treatment . 2.

Source: GeneReviews — "Abetalipoproteinemia"

GeneReviews

Clinical Guidance

Avoid fatty foods, particularly those rich in long-chain fatty acids.

Source: GeneReviews — "Abetalipoproteinemia"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Abetalipoproteinemia"

Clinical Trials

1 trial found

Explore Trials

Prognosis

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

GeneReviews

Surveillance Guidelines

Clinical evaluation every six to 12 months, including assessment of diet and any gastrointestinal or neurologic symptoms, is recommended. The following evaluations are also recommended for abetalipoproteinemia . Table 5. Recommended Surveillance for Individuals with Abetalipoproteinemia

System/Concern	Evaluation	Frequency
General	Assessment of growth parameters	At every visit
Gastrointestinal	Lipid profile1	Every several yrs2; Liver function tests3; Fat-soluble vitamin levels4,5
Eyes	Ophthalmologic eval	Every 6-12 mos6 Neurologic

Source: GeneReviews — "Abetalipoproteinemia"

Phenotype severity distribution: 6 very common features, 18 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

29 publications have been identified in PubMed for abetalipoproteinemia. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (28%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Patient case studies	14	48%
Research summaries	8	28%
Disease patterns and progression	3	10%
Laboratory research	2	7%
Other research	1	3%
New treatment approaches	1	3%

Recent Publications

Junaid SZS (2026). [PMID: 30020727](https://pubmed.ncbi.nlm.nih.gov/30020727/). *Unknown Journal*. [Review / Meta-Analysis]
Feriante J (2026). [PMID: 32809602](https://pubmed.ncbi.nlm.nih.gov/32809602/). *Unknown Journal*. [Review / Meta-Analysis]
Loberman Nachum N (2026). [PMID: 42100254](https://pubmed.ncbi.nlm.nih.gov/42100254/). *Front Med (Lausanne)*. [Case Report / Case Series]
Shah PR (2026). [PMID: 31747195](https://pubmed.ncbi.nlm.nih.gov/31747195/). *Unknown Journal*. [Review / Meta-Analysis]
Vergès B (2026). [PMID: 41866072](https://pubmed.ncbi.nlm.nih.gov/41866072/). *Ann Endocrinol (Paris)*. [Review / Meta-Analysis]
Tada H (2026). [PMID: 41708459](https://pubmed.ncbi.nlm.nih.gov/41708459/). *J Clin Lipidol*. [Case Report / Case Series]
Essalamani R (2026). [PMID: 41807234](https://pubmed.ncbi.nlm.nih.gov/41807234/). *J Clin Lipidol*. [Basic Science / Preclinical]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Lou TW (2025). [PMID: 41473260](https://pubmed.ncbi.nlm.nih.gov/41473260/). *J Clin Transl Hepatol*. [Review / Meta-Analysis]
Valmiki S (2025). [PMID: 39672332](https://pubmed.ncbi.nlm.nih.gov/39672332/). *J Lipid Res*. [Case Report / Case Series]

Kisho

abetalipoproteinemia

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

abetalipoproteinemia

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team