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Familial Lipoprotein Lipase Deficiency

Familial Lipoprotein Lipase Deficiency is an inherited disorder caused by a defective gene.

What are the other Names for this Condition? (Also known as/Synonyms)

  • Apolipoprotein C II Deficiency
  • Burger Grutz Syndrome
  • Chylomicronemia Syndrome

What is Familial Lipoprotein Lipase Deficiency? (Definition/Background Information)

  • Familial Lipoprotein Lipase Deficiency is an inherited disorder caused by a defective gene responsible for an enzyme called lipoprotein lipase. As a result, the affected individuals lack the ability to produce lipoprotein lipase enzyme that is needed to breakdown the fat molecules
  • The disorder is characterized by a massive accumulation of fatty particles (chylomicrons) in blood and a corresponding increase of fatty substances called triglycerides
  • The signs and symptoms associated with Familial Lipoprotein Lipase Deficiency include recurrent attacks of pancreatitis resulting in abdominal pain, nausea, vomiting, and loss of appetite. Also, there may be a formation of yellow skin deposits, called xanthomas, on the eyelid, hands, elbows, and knees
  • Complications of Familial Lipoprotein Lipase Deficiency are recurrent episodes of abdominal pain due to inflammation of the pancreas, xanthomas causing cosmetic concerns, enlargement of the organs (liver and spleen), and occlusion of blood vessels in the retina
  • The deficiency disorder is treated by controlling blood triglyceride levels and through symptomatic treatment. Restriction to a very low-fat diet can dramatically improve the symptoms of Familial Lipoprotein Lipase Deficiency
  • Since it is an inherited disorder, there are no preventive measures available. Awareness of the risk factors, such as a positive family history, can allow early detection
  • When the individuals adhere to a fat-free diet, the symptoms are considerably improved and this can bring about a favorable outcome

Who gets Familial Lipoprotein Lipase Deficiency? (Age and Sex Distribution)

  • Familial Lipoprotein Lipase deficiency is an inherited condition that is usually present during infancy or early childhood
  • It occurs in both males and females
  • The condition occurs worldwide; all racial and ethnic groups may be affected. However for some unknown reason the condition is more common in Quebec region of Canada, compared to the rest of the world

What are the Risk Factors for Familial Lipoprotein Lipase Deficiency? (Predisposing Factors)

  • The major risk factor for Familial Lipoprotein deficiency is a family history of the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Familial Lipoprotein Lipase Deficiency? (Etiology)

Familial Lipoprotein Lipase Deficiency is generally caused by a defective gene coding for lipoprotein lipase enzyme that is passed down in families. As a result, individuals with the condition lack this particular enzyme.

  • The enzyme lipoprotein lipase plays a crucial role in the metabolism of triglycerides. Without this enzyme, the body cannot breakdown fat from the ingested food
  • This leads to the buildup of fat particles (called chylomicrons) in blood and a corresponding increase of plasma triglyceride concentration
  • Familial Lipoprotein Lipase Deficiency is inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Familial Lipoprotein Lipase Deficiency?

Typically, the signs and symptoms of Familial Lipoprotein Lipase Deficiency begin by age 10 years. About 1 in 4 children show signs by the age of 12 months.

The signs and symptoms of include:

  • Failure to thrive in infancy
  • Episodes of abdominal pain due to inflammation of the pancreas. Abdominal pain is usually the first sign of the condition
  • Loss of appetite
  • Nausea, vomiting
  • Pain in the muscles and bones
  • Xanthomas: Yellow fatty skin deposits appearing on the eyelids, hands, or on the knees and elbows
  • Pale retina (in the back of the eye), white-colored blood vessels in the retina
  • Recurrent pancreatitis (inflammation of the pancreas)
  • Yellowing of the eyes and skin (jaundice)

Neurological signs and symptoms, such as memory loss, altered mood (depression), and mild decrease in intellect, can occur when the fat levels are increased in blood. As the fat levels decrease with treatment, these signs and symptoms generally tend to get better.

How is Familial Lipoprotein Lipase Deficiency Diagnosed?

A diagnosis of Familial Lipoprotein Lipase Deficiency may include:

  • Complete evaluation of medical and family history along with a thorough physical exam
  • Examination of the affected individual will show an enlarged liver and spleen, fatty deposits under the skin and in the retina of the eye

The following blood tests may be performed:

  • Blood  cholesterol level
  • Blood triglyceride levels: Triglyceride levels may be extremely high
  • Blood tests show a high level of chylomicrons, a lipoprotein that carries fat from digested food into the blood stream. The chylomicrons are not broken down properly because of the deficiency of the lipoprotein lipase enzyme. Clearance of chylomicrons from the plasma is disrupted, causing triglycerides to accumulate in plasma and the plasma appears milky
  • Lipoprotein lipase activity level in blood
  • Genetic tests for apolipoprotein CII deficiency

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Familial Lipoprotein Lipase Deficiency?

Complications associated with Familial Lipoprotein Lipase Deficiency include:

  • Recurrent episodes of abdominal pain due to inflammation of the pancreas
  • Fatty deposits in the skin (xanthomas) can lead to cosmetic issues
  • Enlargement of the organs such as the liver and spleen
  • Occlusion of the retinal blood vessels

How is Familial Lipoprotein Lipase Deficiency Treated?

The treatment of Familial Lipoprotein Deficiency may involve controlling blood triglyceride levels (through dietary restrictions) and the symptoms.

  • Intake of fat should be restricted to 20 grams per day or less (per the physician’s advice). A very low-fat diet can improve the symptoms of the condition
  • Dietary counseling may be helpful for individuals who wish to follow a strict diet
  • Fat-soluble vitamin and mineral supplements are recommended for those who eat a very low-fat diet
  • Medications are given to control the level of triglycerides in blood
  • Pancreatitis that is associated with lipoprotein lipase deficiency is treated accordingly with pain medication and frequent follow-up visits to the healthcare provider

How can Familial Lipoprotein Lipase Deficiency be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Familial Lipoprotein Lipase Deficiency, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Following a strict ‘very low-fat diet’ can drastically improve the symptoms of Familial Lipoprotein Lipase Deficiency. It is essential to adhere to a fat-free diet and avoid alcohol in order to prevent the symptoms

What is the Prognosis of Familial Lipoprotein Lipase Deficiency? (Outcomes/Resolutions)

  • Individuals with Familial Lipoprotein Lipase Deficiency, following a very low-fat diet, can have a more favorable prognosis than those who do not undertake a strict diet regimen
  • Using proper dietary control, such as strictly adhering to a fat-free diet, the symptoms can be considerably improved

Additional and Relevant Useful Information for Familial Lipoprotein Lipase Deficiency:

The following DoveMed website link is a useful resource for additional information:


What are some Useful Resources for Additional Information?

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126 Gaithersburg, MD 20898-8126
Toll-Free: (888) 205-2311
TTY: (888) 205-3223
International Telephone Access Number: (301) 251-4925
Fax: (301) 251-4911
Website: http://rarediseases.info.nih.gov

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building, 176 Nantwich Road Crewe, Intl, CW2 6BG United Kingdom
Phone: (0845) 241-2174 (United Kingdom)
Toll-Free: 1 (800) 652-3181
Email: info.svcs@climb.org.uk
Website: http://www.climb.org.uk

Association for Neuro-Metabolic Disorders
5223 Brookfield Lane, Sylvania, OH 43560-1809
Phone: (419) 885-1497
E-mail:  volk4olks@aol.com

Research Trust for Metabolic Diseases in Children (RTMDC)
Golden Gates Lodge, Weston Road, Crewe CW2 SXN United Kingdom
Phone: 0 (127) 025-0221

Metabolic Information Network
P.O. Box 670847, Dallas TX 75367-0847
Phone: (214) 696-2188
E-mail: mizesg@ix.netcom.com

References and Information Sources used for the Article:

http://www.ncbi.nlm.nih.gov/books/NBK1308/ (accessed on 8/3/2015)

http://www.nlm.nih.gov/medlineplus/ency/article/000408.htm (accessed on 8/3/2015)

http://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency (accessed on 8/3/2015)

Helpful Peer-Reviewed Medical Articles:

Tsukamoto, K. (2007). [Familial lipoprotein lipase deficiency]. Nihon Rinsho, 65 Suppl 7, 275-278.

Yoshida, T. (2001). [Familial lipoprotein lipase deficiency]. Nihon Rinsho, 59 Suppl 3, 22-25.

Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P. Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6. Ann Genet. 2001 Jan-Mar;44(1):25-32.

Martín-Campos JM, Julve J, Roig R, Martínez S, Errico TL, Martínez-Couselo S, Escolà-Gil JC, Méndez-González J, Blanco-Vaca F. Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency. Clin Chim Acta. 2014 Feb 15;429:61-8. doi: 10.1016/j.cca.2013.11.025.

Mohandas MK, Jemila J, Ajith Krishnan AS, George TT. Familial chylomicronemia syndrome. Indian J Pediatr. 2005 Feb;72(2):181.

Sisman G, Erzin Y, Hatemi I, Caglar E, Boga S, Singh V, Senturk H. Familial chylomicronemia syndrome related chronic pancreatitis: a single-center study. Hepatobiliary Pancreat Dis Int. 2014 Apr;13(2):209-14.

Burnett, J. R., Hooper, A. J., & Hegele, R. A. (2017). Familial lipoprotein lipase deficiency.

Scott, L. J. (2015). Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency. Drugs75(2), 175-182.