Rare Gastroenterology News

Disease Profile

Abetalipoproteinemia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

E78.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Bassen Kornzweig syndrome; Microsomal triglyceride transfer protein deficiency disease; Microsomal triglyceride transfer protein deficiency;

Categories

Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;

Summary

Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth. Without treatment, later complications may include muscle weakness, poor night and color vision, tremors, and speech difficulties.[1][2] The long-term outcome can be difficult to predict. Abetalipoproteinemia is diagnosed based on clinical exam, laboratory tests showing abnormally low cholesterol, and confirmed by genetic testing.[3] This condition is caused by genetic variants in the MTTP gene and is inherited in an autosomal recessive pattern.[4] This condition has been treated with a low fat diet and vitamin supplements.[3] Most people with abetalipoproteinemia who are treated do not develop complications.[4][5]

Symptoms

The signs and symptoms of abetalipoproteinemia usually appear in the first few months of life.[3][4] They can include:

  • inability to absorb fats and some vitamins
  • poor growth in infancy
  • digestive symptoms such as diarrhea and steatorrhea (foul-smelling stools)
  • abnormal, star-shaped red blood cells (acanthocytosis)

Because abetalipoproteinemia is extremely rare, the course of the disease is difficult to predict. This condition is usually diagnosed in infancy due to diarrhea, vomiting and poor growth. Most individuals with this condition are treated with excess vitamins and a special, fat-controlled diet and have few complications. Untreated individuals with abetalipoproteinemia can develop gradual vision loss, muscle weakness, tremors, and slow or slurred speech that gets worse over time.[3][4][5]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal apolipoprotein level
0025201
Acanthocytosis
0001927
Low levels of vitamin E
Vitamin E deficiency
0100513
Steatorrhea
Fat in feces
0002570
30%-79% of people have these symptoms
Abnormality of retinal pigmentation
0007703
Anemia
Low number of red blood cells or hemoglobin
0001903
Areflexia
Absent tendon reflexes
0001284
Chronic diarrhea
0002028
Color vision defect
Abnormal color vision
Abnormality of color vision

[ more ]

0000551
Decreased HDL cholesterol concentration
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol

[ more ]

0003233
Decreased LDL cholesterol concentration
0003563
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Hyperbilirubinemia
High blood bilirubin levels
0002904
Hypoalbuminemia
Low blood albumin
0003073
Hypocholesterolemia
Decreased circulating cholesterol level
0003146
Hypotriglyceridemia
Low blood triglyceride levels
0012153
Low levels of vitamin A
Vitamin A deficiency
0004905
Low levels of vitamin D
Deficient in vitamin D
Vitamin D deficiency

[ more ]

0100512
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Nyctalopia
Night blindness
Night-blindness
Poor night vision

[ more ]

0000662
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive

[ more ]

0000529
Reticulocytosis
Increased immature red blood cells
Increased number of immature red blood cells

[ more ]

0001923
5%-29% of people have these symptoms
Babinski sign
0003487
Broad-based gait
Wide based walk
0002136
Decreased erythrocyte sedimentation rate
Low ESR
0025022
Distal lower limb muscle weakness
0009053
Dysarthria
Difficulty articulating speech
0001260
Dysmetria
Lack of coordination of movement
0001310
Elevated hepatic transaminase
High liver enzymes
0002910
Gait ataxia
Inability to coordinate movements when walking
0002066
Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

0001397
Hepatomegaly
Enlarged liver
0002240
Hypopigmentation of the fundus
0007894
Impaired distal proprioception
0006858
Impaired vibratory sensation
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense

[ more ]

0002495
Kyphoscoliosis
0002751
Myopathy
Muscle tissue disease
0003198
Osteopenia
0000938
Pes cavus
High-arched foot
0001761
Positive Romberg sign
0002403
Prolonged prothrombin time
0008151
Rod-cone dystrophy
0000510
Scotoma
0000575
Steppage gait
High stepping
0003376
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Vomiting
Throwing up
0002013
1%-4% of people have these symptoms
Abnormal bleeding
Bleeding tendency
0001892
Blindness
0000618
Cardiomegaly
Enlarged heart
Increased heart size

[ more ]

0001640
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Corneal ulceration
0012804
Hepatic fibrosis
0001395
Hypothyroidism
Underactive thyroid
0000821
Keratoconjunctivitis sicca
Dry eyes
0001097
Ophthalmoplegia
Eye muscle paralysis
0000602
Ptosis
Drooping upper eyelid
0000508
Respiratory failure
0002878
Percent of people who have these symptoms is not available through HPO
Abetalipoproteinemia
0008181
Ataxia
0001251
Autosomal recessive inheritance
0000007

Diagnosis

Abetalipoproteinemia is diagnosed based on clinical exam, symptoms, and laboratory tests showing abnormally low cholesterol. It can be confirmed by genetic testing for alterations in the MTTP gene.[4]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    Individuals with abetalipoproteinemia have been treated with a low fat diet and large doses of fat-soluble vitamins. Specialists involved in the care of someone with abetalipoproteinemia may include:[1][3]

    • nutritionist
    • gastroenterologist
    • hepatologist
    • ophthalmologist
    • neurologist

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • MedlinePlus Genetics contains information on Abetalipoproteinemia. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Abetalipoproteinemia. Click on the link to view a sample search on this topic.

          References

          1. Burnett JR, Bell DA, Hooper AJ, Hegele RA. Clincal Utility Gene Card for: Abetalipoproteinemia – Update 2014.. Eur J. Hum Genet.. Jun 2015; 23(6):890. https://pubmed.ncbi.nlm.nih.gov/25335492.
          2. Paquette M, Dufour R, Hegele RA, Baass A. A tale of 2 cousins: An atypical and typical case of abetalipoproteinemia. J Clin Lipidol. Jul-Aug 2016; 10(4):1030-1034. https://pubmed.ncbi.nlm.nih.gov/27578136.
          3. Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. May 2014; 37(3):333-9. https://pubmed.ncbi.nlm.nih.gov/24288038.
          4. Burnett JR, Hooper AJ, Hegele RA,. Abetalipoproteinemia. GeneReviews. Oct 15, 2018; https://www.ncbi.nlm.nih.gov/books/NBK532447.
          5. Junaid Z, Patel K. Abetalipoproteinemia. StatPearls [Internet] Treasure Island (FL): StatPearls Publishing. 2020 Jan 2019 Dec 16; https://pubmed.ncbi.nlm.nih.gov/30020727.

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