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</div><div><span>Primary amyloidosis</span></div></div>
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<article><div id="d-article"><div class="page-info"><div class="page-title"><a name="start" id="start">
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</a><h1 class="with-also" itemprop="name">Primary amyloidosis</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Primary amyloidosis is a rare disorder in which abnormal proteins build up in tissues and organs. Clumps of the abnormal proteins are called amyloid deposits.</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>The cause of primary amyloidosis is not well understood. Genes may play a role.</p><p>The condition is related to abnormal and excess production of specific proteins. The proteins build up in certain organs. This makes it harder for the organs to work correctly.</p><p>Primary amyloidosis can lead to conditions that include:</p><ul><li><a test="test" href="./000433.htm">Carpal tunnel syndrome</a> (due to protein deposits in the nerve)</li><li>Heart muscle damage (<a test="test" href="./001105.htm">cardiomyopathy</a>) leading to <a test="test" href="./000158.htm">congestive heart failure</a></li><li>Intestinal <a test="test" href="./000299.htm">malabsorption</a></li><li>Liver swelling and malfunction</li><li><a test="test" href="./000501.htm">Kidney failure</a></li><li><a test="test" href="./000490.htm">Nephrotic syndrome</a> (group of symptoms that includes protein in the urine, low protein levels in the blood, high cholesterol levels, high triglyceride levels, and swelling throughout the body)</li><li>Nerve problems (neuropathy)</li><li>Orthostatic hypotension (drop in blood pressure when you stand up) </li></ul></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 depend on the organs affected. This disease can affect many organs and tissues, including the tongue, intestines, skeletal and smooth muscles, nerves, skin, ligaments, heart, liver, spleen, kidneys, and bladder.</p><p>Symptoms may include any of the following:</p><ul><li>Abnormal heart rhythm</li><li>Fatigue</li><li>Numbness of hands or feet</li><li>Shortness of breath</li><li>Skin changes</li><li>Swallowing problems</li><li>Swelling in the arms and legs</li><li>Swollen tongue</li><li>Weak hand grip</li><li>Weight loss or weight gain </li></ul><p>Other symptoms that may occur with this disease:</p><ul><li><a test="test" href="./003147.htm">Decreased urine output</a></li><li>Diarrhea</li><li><a test="test" href="./003054.htm">Hoarseness or changing voice</a></li><li><a test="test" href="./003261.htm">Joint pain</a></li><li>Weakness </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>The health care provider will examine you. You will be asked about your medical history and symptoms. A physical exam may show that you have a <a test="test" href="./003275.htm">swollen liver</a> or spleen, or signs of heart or nerve damage.</p><p>The first step in diagnosing amyloidosis should be blood and urine tests to look for abnormal proteins.</p><p>Other tests depend on your symptoms and the organ that may be affected. Some tests include:</p><ul><li><a test="test" href="./003777.htm">Abdominal ultrasound</a> to check the liver and spleen</li><li>Heart tests, such as an <a test="test" href="./003868.htm">ECG</a>, <a test="test" href="./003869.htm">ECHO</a>, or MRI</li><li>Kidney function tests to check for signs of kidney damage (nephrotic syndrome or renal insufficiency) </li></ul><p>Tests that can help confirm the diagnosis include:</p><ul><li>Abdominal fat pad aspiration</li><li>Bone marrow biopsy</li><li>Heart muscle biopsy</li><li>Rectal <a test="test" href="./002264.htm">mucosa</a> biopsy </li></ul></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 may include:</p><ul><li>Chemotherapy</li><li>Stem cell transplant</li><li>Organ transplant</li></ul><p>If the condition is caused by another disease, that disease should be aggressively treated. This may improve symptoms or slow the disease from getting worse. Complications such as heart failure, kidney failure, and other problems can sometimes be treated, when needed.</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>How well you do depends on which organs are affected. Heart and kidney involvement may lead to organ failure and death. Body-wide (<a test="test" href="./002294.htm">systemic</a>) amyloidosis can lead to death within 2 years. </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-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>Contact your provider if you have symptoms of this disease. Also call if you have been diagnosed with this disease and have:</p><ul><li>Decreased urination</li><li>Difficulty breathing</li><li>Swelling of the ankles or other body parts that does not go away</li></ul></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-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>There is no known prevention for primary amyloidosis.</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>Amyloidosis - primary; Immunoglobulin light chain amyloidosis; Primary systemic amyloidosis; Primary localized amyloidosis</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/1966t.jpg" alt="Amyloidosis of the fingers" title="Amyloidosis of the fingers" class="side-img"/><a href="../imagepages/1966.htm">Amyloidosis of the fingers</a></li>
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/2366t.jpg" alt="Amyloidosis of the face" title="Amyloidosis of the face" class="side-img"/><a href="../imagepages/2366.htm">Amyloidosis of the face</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>Buxbaum JN. The systemic amyloidosis. In: Hochberg MC, Gravallese EM, Smolen JS, van der Hejide D, Weinblatt ME, Weisman MH, eds. <em>Rheumatology</em>. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 177.</p><p>Gertz MA. Amyloidosis. In: Goldman L, Schafer AI, eds. <em>Goldman-Cecil Medicine</em>. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 179.</p><p>Gertz MA, Buadi FK, Lacy MQ, Hayman SR. Immunoglobulin light-chain amyloidosis (primary amyloidosis). In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. <em>Hematology: Basic Principles and Practice</em>. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 93.</p></div></div></section>
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