Chylomicronemia syndrome is a disorder passed down through families in which the body does not break down fats (lipids) correctly. This causes fat particles called chylomicrons to build up in the blood.
Alternative NamesFamilial lipoprotein lipase deficiency
Causes, incidence, and risk factorsChylomicronemia syndrome is a rare genetic disorder. It occurs when a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle and helps break down certain lipids. When LpL is missing or broken, fat particles called chylomicrons build up in the blood. This build up is called chylomicronemia.
SymptomsSymptoms may start in infancy and include:
Examination and tests may show an enlarged liver and spleen, inflammation of the pancreas, fatty deposits under the skin, and possibly deposits in the retina of the eye.
A creamy layer due to chylomicrons in the blood will appear when blood spins in a laboratory machine.
The triglyceride level is extremely high.
TreatmentA completely fat-free diet is required.
Expectations (prognosis)Symptoms tend to be dramatically reduced when patients adhere to a fat-free diet.
ComplicationsWhen untreated, the excess chylomicrons may lead to bouts of pancreatitis, which can be extremely painful and even life threatening. There seems to be no increased risk for atherosclerotic Heart disease.
Calling your health care providerSeek immediate medical care if you have abdominal pain or other warning signs of pancreatitis.
Call for an appointment with your health care provider if you have a personal or family history of high triglyceride levels.
PreventionThere is no way to prevent this syndrome, but sticking to a fat-free diet and avoiding alcohol can prevent its symptoms.
ReferencesMahley RW, Weisgraber KH, Bersot TP. Disorders of lipid metabolism. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 36.
Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 217.
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome
Stockholm syndrome.
The Koro syndrome is a culture-specific syndrome. The individual with Koro syndrome has an overpowering belief that his or her genitals are retracting and disappearing.
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome.
XXXY Syndrome and Barr-Shaver-Carr Syndrome are the same.
Cushing's Syndrome
Disorders, such as Down's Syndrome, are caused by nondisjunction.
yes there is.
what is kinefelter syndrome?
Angelman syndrome is a genetic disorder, as is Down syndrome. But they are not the same. Angelman Syndrome involves a deletion of Chromosome 15, whereas people with Down syndrome have an extra copy of Chromosome 21.
also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome
no