Rare Hematology News

Disease Profile

Familial chylomicronemia syndrome

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

#N/A

ICD-10

#N/A

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)

Hyperlipoproteinemia type 1

Categories

Endocrine Diseases; Metabolic disorders

Summary

Hyperlipoproteinemia type 1 is an inherited condition that disrupts the normal breakdown of fats in the body, causing a large amount of fat to build up in the blood.[1] This condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly), and small yellow skin lesions called eruptive xanthomas.[1][2] Hyperlipoproteinemia type 1 is caused by mutations in the LPL gene. This condition is inherited in an autosomal recessive pattern.[1] Treatment aims to control the symptoms through a low-fat diet.[2]

Symptoms

The signs and symptoms of hyperlipoproteinemia type 1 usually begin during childhood. Approximately 25 percent of affected individuals develop symptoms before age 1. The characteristic features of hyperlipoproteinemia type 1 include:[1][2][3]

  • Abdominal pain (may manifest as colic in infancy)
  • Nausea, vomiting, loss of appetite
  • Failure to thrive in infancy
  • Musculoskeletal pain (pain in the muscles and bones)
  • Xanthomas (small, yellow, fat deposits in the skin)
  • Pancreatitis
  • Enlarged liver and spleen (hepatosplenomegaly)
  • In some cases, neurological features develop, including depression, memory loss, and mild intellectual decline (dementia). These symptoms typically go away once dietary fat levels are lowered.[1][3] 

    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
    100% of people have these symptoms
    Hypertriglyceridemia
    Increased plasma triglycerides
    Increased serum triglycerides
    Increased triglycerides

    [ more ]

    0002155
    Increased circulating chylomicron concentration
    0012238
    80%-99% of people have these symptoms
    Acute pancreatitis
    Acute pancreatic inflammation
    0001735
    Episodic abdominal pain
    0002574
    Hepatosplenomegaly
    Enlarged liver and spleen
    0001433
    Lipemia retinalis
    0000660
    Recurrent pancreatitis
    Recurring pancreas inflammation
    0100027
    30%-79% of people have these symptoms
    Eruptive xanthomas
    0001013
    Hepatic steatosis
    Fatty infiltration of liver
    Fatty liver

    [ more ]

    0001397
    5%-29% of people have these symptoms
    Failure to thrive
    Faltering weight
    Weight faltering

    [ more ]

    0001508
    Nausea and vomiting
    0002017
    1%-4% of people have these symptoms
    Abnormal emotion/affect behavior
    0100851
    Dementia
    Dementia, progressive
    Progressive dementia

    [ more ]

    0000726
    Depressivity
    Depression
    0000716
    Diabetes mellitus
    0000819
    Jaundice
    Yellow skin
    Yellowing of the skin

    [ more ]

    0000952
    Memory impairment
    Forgetfulness
    Memory loss
    Memory problems
    Poor memory

    [ more ]

    0002354
    Perianal abscess
    0009789
    Pulmonary embolism
    Blood clot in artery of lung
    0002204
    Percent of people who have these symptoms is not available through HPO
    Autosomal recessive inheritance
    0000007
    Hypercholesterolemia
    Elevated serum cholesterol
    Elevated total cholesterol
    Increased total cholesterol

    [ more ]

    0003124
    Hyperlipidemia
    Elevated lipids in blood
    0003077
    Lactescent serum
    0031028
    Nausea
    0002018
    Pancreatitis
    Pancreatic inflammation
    0001733
    Splenomegaly
    Increased spleen size
    0001744
    Vomiting
    Throwing up
    0002013

    Cause

    Hyperlipoproteinemia type 1 is caused by mutations in the LPL gene. This gene provides instructions for producing an enzyme called lipoprotein lipase. This enzyme helps break down fats called triglycerides, which are carried by molecules called lipoproteins.[1]

    Mutations in the LPL gene lead to a reduction or elimination of lipoprotein lipase activity, which prevents the enzyme from effectively breaking down triglycerides. As a result, triglycerides attached to lipoproteins build up in the blood and tissues, leading to the signs and symptoms of hyperlipoproteinemia type 1.[1]

    Diagnosis

    Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

    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.
    • Orphanet lists international laboratories offering diagnostic testing for this condition.

      Treatment

      Treatment for hyperlipoproteinemia type 1 is intended to control blood triglyceride levels with a very low-fat diet. It is recommended that individuals with this condition eat no more than 20 grams of fat per day.[2] Medium-chain fatty acids (such as coconut oil) can be incorporated into the diet, as they are absorbed by the body in a different manner. Dietary counseling may be helpful to maintain adequate calorie and nutrient intake.[3]

      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

        Social Networking Websites

        • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

          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.
          • Genetics Home Reference (GHR) contains information on Familial chylomicronemia syndrome. 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

            • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
            • 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 Familial chylomicronemia syndrome. Click on the link to view a sample search on this topic.

              References

              1. Familial lipoprotein lipase deficiency. Genetics Home Reference Website. February 2015; https://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency.
              2. Martin LJ, Zieve D. Familial lipoprotein lipase deficiency. MedlinePlus. April 30, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000408.htm.
              3. Brunzell JD. Familial Lipoprotein Lipase Deficiency. GeneReviews. April 24, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1308/.

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