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</div><div><span>Familial lipoprotein lipase deficiency</span></div></div>
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</a><h1 class="with-also" itemprop="name">Familial lipoprotein lipase deficiency</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Familial lipoprotein lipase deficiency is a group of rare genetic disorders in which a person lacks a protein needed to break down fat molecules. The disorder causes a large amount of fat to build up in the blood.</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>Familial lipoprotein lipase deficiency is caused by a defective gene that is passed down through families.</p><p>People with this condition lack an <a test="test" href="./002353.htm">enzyme</a> called lipoprotein lipase. Without this enzyme, the body cannot break down fat from digested food. Fat particles called chylomicrons build up in the blood.</p><p>Risk factors include a family history of lipoprotein lipase deficiency.</p><p>The condition usually first develops during infancy or childhood.</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 include any of the following:</p><ul><li>Abdominal pain (may appear as colic in infants)</li><li>Loss of appetite</li><li>Nausea, vomiting</li><li>Pain in the muscles and bones</li><li>Enlarged liver and spleen</li><li><a test="test" href="./000991.htm">Failure to thrive</a> in infants</li><li>Fatty deposits in the skin (<a test="test" href="./001447.htm">xanthomas</a>)</li><li>High <a test="test" href="./003493.htm">triglyceride levels</a> in the blood</li><li>Pale retinas and white-colored blood vessels in the retinas</li><li>Chronic inflammation of the pancreas</li><li>Yellowing of the eyes and skin (jaundice) </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>Your health care provider will perform a physical examination and ask about your symptoms.</p><p>Blood tests will be done to check cholesterol and triglyceride levels. Sometimes, a special blood test is done after you are given blood thinners through a vein. This test looks for <a test="test" href="./003465.htm">lipoprotein lipase</a> activity in your blood.</p><p>Genetic tests may be done.</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>Treatment aims to control the symptoms and blood triglyceride levels with a very low-fat diet. Your provider will likely recommend that you eat no more than 20 grams of fat per day to prevent the symptoms from coming back.</p><p>Twenty grams of fat is equal to one of the following:</p><ul><li>Two 8-ounce (240 milliliters) glasses of whole milk</li><li>4 teaspoons (9.5 grams) of margarine</li><li>4 ounces (113 grams) serving of meat</li></ul><p>The average American diet has a fat content of up to 45% of total calories. Fat-soluble vitamins A, D, E, and K and mineral supplements are recommended for people who eat a very low-fat diet. You may want to discuss your diet needs with your provider and a registered dietitian.</p><p>Pancreatitis that is related to lipoprotein lipase deficiency responds to treatments for that disorder.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</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>These resources can provide more information on familial lipoprotein lipase deficiency:</p><ul><li>National Organization for Rare Disorders -- <a class="extln" target="_blank" href="https://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency">rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency</a></li><li>NIH Genetics Home Reference -- <a class="extln" target="_blank" href="https://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency">ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency</a></li></ul></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-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>People with this condition who follow a very low-fat diet can live into adulthood.</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-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>Pancreatitis and recurrent episodes of abdominal pain may develop.</p><p>Xanthomas are not usually painful unless they are rubbed a lot.</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-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>Contact your provider for screening if someone in your family has lipoprotein lipase deficiency. Genetic counseling is recommended for anyone with a family history of this disease.</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-9" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-9"><p>There is no known prevention for this rare, inherited disorder. Awareness of risks may allow early detection. Following a very low-fat diet can improve the symptoms of this disease.</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>Type I hyperlipoproteinemia; Familial chylomicronemia; Familial LPL deficiency</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/8755t.jpg" alt="Coronary artery disease" title="Coronary artery disease" class="side-img"/><a href="../imagepages/8755.htm">Coronary artery disease</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>Semenkovich CF, Goldberg IJ. Disorders of lipid metabolism. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. <em>Williams Textbook of Endocrinology</em>. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 41.</p></div></div></section>
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