Rare Immunology News

Disease Profile

Hypolipoproteinemia

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.

Unknown

Age of onset

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ICD-10

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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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Categories

Metabolic disorders

Summary

Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associated genetic disorders includes abetalipoproteinemia, familial hypobetalipoproteinemia, and chylomicron retention disease.[1][2] Signs and symptoms in the the genetic or familial form of hypolipoproteinemia vary. In hypobetalipoproteinemia the low density lipoprotein (LDL) cholesterol levels are very low, yet people with this syndrome typically have no symptoms nor require treatment. Other forms result in absent or near absent LDL levels and can cause serious symptoms in infancy and early childhood.[1] Treatment for hypoproteinemia varies depending on the underlying cause and signs and symptoms present in each individual.

Symptoms

The signs and symptoms associated with familial hypolipoproteinemia vary depending on the underlying cause. While some individuals may have mild signs or symptoms or no detectable associated health issues, others may have serious symptoms in infancy and early childhood.[1] To view more detailed information on the associated signs and symptoms for the different genetic causes click on the links below:

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

In-Depth Information

  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypolipoproteinemia. Click on the link to view a sample search on this topic.

References

  1. Hypolipoproteinemia. MERCK Manuals. August 2015; https://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/lipid-disorders/hypolipidemia. Accessed 12/1/2016.
  2. RR Elmehdawi. Hypolipidemia: A Word of Caution. Libyan Journal of Medicine. 2008; 3(2):84-90. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3074286/.

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