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</div><div><span>Chylomicronemia syndrome</span></div></div>
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</a><h1 class="with-also" itemprop="name">Chylomicronemia syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Chylomicronemia syndrome is a disorder in which the body does not break down fats (lipids) correctly. This causes fat particles called chylomicrons to build up in the blood. The disorder is passed down through families. </p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. It can also be caused by the absence of second factor called apolipoprotein C-II (also called apoCII), which activates LpL. LpL is normally found in fat and muscle. It helps break down certain lipids. When LpL is missing or broken, fat particles called chylomicrons build up in the blood. This buildup is called chylomicronemia.</p><p>Defects in apolipoprotein CII and apolipoprotein AV can cause the syndrome as well. It is more likely to occur when people who are predisposed to have high triglycerides (such as those who have <a test="test" href="./000396.htm">familial combined hyperlipidemia</a> or <a test="test" href="./000397.htm">familial hypertriglyceridemia</a>) develop diabetes, obesity or are exposed to certain medicines.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>Symptoms may start in infancy and include:</p><ul><li>Abdominal pain due to pancreatitis (inflammation of the pancreas).</li><li>Symptoms of nerve damage, such as loss of feeling in the feet or legs, and memory loss.</li><li>Yellow deposits of fatty material in the skin called xanthomas. These growths may appear on the back, buttocks, soles of the feet, or ankles, knees and elbows.</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>A physical exam and tests may show:</p><ul><li><a test="test" href="./003275.htm">Enlarged liver</a> and spleen</li><li>Inflammation of the pancreas</li><li>Fatty deposits under the skin</li><li>Possibly fatty deposits in the <a test="test" href="./002291.htm">retina</a> of the eye </li></ul><p>A creamy layer will appear when blood spins in a laboratory machine. This layer is due to chylomicrons in the blood.</p><p>The <a test="test" href="./003493.htm">triglyceride level</a> is extremely high.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>A low fat, alcohol-free diet is required. You may need to stop taking certain medicines that can make symptoms worse. Do not stop taking any medicine without first talking to your health care provider. Conditions such as dehydration and diabetes can make symptoms worse. If diagnosed, these conditions need to be treated and controlled.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>A low fat diet can reduce symptoms dramatically.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>When untreated, the excess chylomicrons may lead to bouts of pancreatitis. This condition can be very painful and even life threatening.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Seek medical care right away if you have abdominal pain or other warning signs of pancreatitis.</p><p>Contact your provider if you have a personal or family history of high triglyceride levels.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p>There is no way to prevent someone from inheriting this syndrome.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Familial lipoprotein lipase deficiency; Familial hyperchylomicronemia syndrome, Type I hyperlipidemia</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/9396t.jpg" alt="Hepatomegaly" title="Hepatomegaly" class="side-img"/><a href="../imagepages/9396.htm">Hepatomegaly</a></li>
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/2490t.jpg" alt="Xanthoma on the knee" title="Xanthoma on the knee" class="side-img"/><a href="../imagepages/2490.htm">Xanthoma on the knee</a></li>
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Genest J, Mora S, Libby P. Lipoprotein disorders and cardiovascular disease. In: Libby P, Bonow RO, Mann DL, Tomaselli GF, Bhatt DL, Solomon SD, eds. <em>Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine.</em> 12th ed. Philadelphia, PA: Elsevier; 2022:chap 27.</p><p>Robinson JG. Disorders of lipid metabolism. In: Goldman L, Cooney KA, eds. <em>Goldman-Cecil Medicine.</em> 27th ed. Philadelphia, PA: Elsevier; 2024:chap 190.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 5/8/2024</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<div id="section-version" class="section-body"><p>Updated by: Thomas S. Metkus, MD, Assistant Professor of Medicine and Surgery, Johns Hopkins University School of Medicine, Baltimore, MD. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. </p>
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