Familial Lipoprotein Lipase Deficiency

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Familial Lipoprotein Lipase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • familial LPL deficiency
  • hyperlipoproteinemia type 1

Disorder Subdivisions

  • None

General Discussion

Summary
Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called triglycerides. Affected individuals often experience episodes of abdominal pain, acute recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as eruptive xanthomas. Familial LPL deficiency is caused by mutations in the lipoprotein lipase (LPL) gene and is inherited as an autosomal recessive trait. Recently, mutations in other genes besides LPL were found to cause a clinical picture similar to LPL deficiency.

Introduction
Chylomicronemia syndrome is a general term for the symptoms that develop due to the accumulation of chylomicrons in the plasma. There are many causes of chylomicronemia syndrome. The term familial chylomicronemia is sometimes used synonymously with familial lipoprotein lipase deficiency. However, there are different causes of familial chylomicronemia. In the past, familial lipoprotein lipase deficiency has also been called hyperlipoproteinemia type I. Familial LPL deficiency was first described in the medical literature in 1932 by Drs. Burger and Grutz.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Internet: http://www.CLIMB.org.uk

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  2/20/2013
Copyright  1987, 1988, 1989, 1995, 1996, 1997, 2005, 2013 National Organization for Rare Disorders, Inc.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.

First Nurse

First Nurse

Call First Nurse 24 Hours a Day for free health care advice, resources and referrals!

Ames: 515-239-6877
In Iowa: 800-524-6877 

Search health information online in our Mulimedia Health Library.

High Quality Care

Guardian of Excellence

Mary Greeley consistently delivers high quality patient care.

  • 2013 Guardian of Excellence Award for Clinical Quality
  • Grade 'A' Patient Safety from the Leapfrog Group
  • 2013 Top Performer on Key Quality Measures ranking from The Joint Commission
  • Highest percentage bonus of any Iowa hospital in Medicare's quality incentive program

Mary Greeley on Facebook

Like us on Facebook

Patient Privacy | Net Learning for Employees | MGMC PACS for Physicians
Emergency Preparedness

1111 Duff Avenue Ames, IA 50010 - 515-239-2011 - yourhealth.mgmc@mgmc.com

©2014 Mary Greeley Medical Center - All rights reserved.