Familial Hyperlipoproteinemia Type 1
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.
The topic Familial Hyperlipoproteinemia Type 1 you are seeking is a synonym, or alternative name, or is closely related to the medical condition Familial Lipoprotein Lipase Deficiency.
Quick Summary:
- 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
Please find comprehensive information on Familial Lipoprotein Lipase Deficiency regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.
What are some Useful Resources for Additional Information?
Genetic and Rare Diseases (GARD) Information Center
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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 06/14/2017)
http://www.nlm.nih.gov/medlineplus/ency/article/000408.htm (accessed on 06/14/2017)
http://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency (accessed on 06/14/2017)
Helpful Peer-Reviewed Medical Articles:
Gotoda, T., Shirai, K., Ohta, T., Kobayashi, J., Yokoyama, S., Oikawa, S., ... & Harada-Shiba, M. (2012). Diagnosis and management of type I and type V hyperlipoproteinemia. Journal of atherosclerosis and thrombosis, 19(1), 1-12.
Brunzell, J. D. (2011). Familial lipoprotein lipase deficiency.
Scott, L. J. (2015). Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency. Drugs, 75(2), 175-182.
Ameis, D., Kobayashi, J., Davis, R. C., Ben-Zeev, O., Malloy, M. J., Kane, J. P., ... & Schotz, M. C. (1991). Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. Journal of Clinical Investigation, 87(4), 1165.
Ma, Y., Henderson, H. E., Ven Murthy, M. R., Roederer, G., Monsalve, M. V., Clarke, L. A., ... & Davignon, J. (1991). A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. New England Journal of Medicine, 324(25), 1761-1766.