Severe hand pain as an extracardiac manifestation of transthyretin amyloidosis
Transthyretin amyloidosis is a multisystemic disease caused by the aggregation of amyloid fibrils, resulting in high morbidity and mortality in the presence of cardiac involvement. Patients often experience vague symptoms that make amyloidosis difficult to diagnose. Differential diagnosis for hand p...
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description | Transthyretin amyloidosis is a multisystemic disease caused by the aggregation of amyloid fibrils, resulting in high morbidity and mortality in the presence of cardiac involvement. Patients often experience vague symptoms that make amyloidosis difficult to diagnose. Differential diagnosis for hand pain in a patient with systemic amyloidosis is broad. We present a patient with severe hand cramping and inability to perform activities of daily living. This preceded a new diagnosis of familial amyloid cardiomyopathy. The patient was a poor responder to systemic corticosteroids, anti-inflammatories and anticonvulsant therapy. Her unique presentation gives insight into a rare but debilitating disorder and the potential link between amyloidosis and other disease processes. |
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Patients often experience vague symptoms that make amyloidosis difficult to diagnose. Differential diagnosis for hand pain in a patient with systemic amyloidosis is broad. We present a patient with severe hand cramping and inability to perform activities of daily living. This preceded a new diagnosis of familial amyloid cardiomyopathy. The patient was a poor responder to systemic corticosteroids, anti-inflammatories and anticonvulsant therapy. Her unique presentation gives insight into a rare but debilitating disorder and the potential link between amyloidosis and other disease processes.</description><identifier>ISSN: 1757-790X</identifier><identifier>EISSN: 1757-790X</identifier><identifier>DOI: 10.1136/bcr-2019-229677</identifier><identifier>PMID: 31645392</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Aged ; Amyloid Neuropathies, Familial - complications ; Amyloid Neuropathies, Familial - diagnosis ; Amyloid Neuropathies, Familial - pathology ; Amyloidosis ; Anticonvulsants ; arrhythmias ; Atrophy ; Cardiovascular Diseases - etiology ; Case reports ; Electrolytes ; Family medical history ; Female ; Hand ; Heart ; Heart failure ; Humans ; Kidney diseases ; Liver ; Multiple myeloma ; Muscle Cramp - etiology ; musculoskeletal syndromes ; Pain ; Pain - etiology ; Pathogenesis ; peripheral nerve disease ; Pulmonary hypertension ; Rare Disease ; Rheumatoid arthritis ; rheumatology ; Skin ; Transplants & implants ; Trauma ; Ultrasonic imaging ; Vitamin deficiency</subject><ispartof>BMJ case reports, 2019-10, Vol.12 (10), p.e229677</ispartof><rights>BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.</rights><rights>2019 BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.</rights><rights>BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. 2019</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b492t-49860d561ded38db884dfe5fc9e5774f5d107e7d692ffa52ab95027a1165d6d3</citedby><cites>FETCH-LOGICAL-b492t-49860d561ded38db884dfe5fc9e5774f5d107e7d692ffa52ab95027a1165d6d3</cites><orcidid>0000-0001-6702-3352</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6827757/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6827757/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31645392$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Patel, Sneha N</creatorcontrib><creatorcontrib>Koyoda, Sai Krishna</creatorcontrib><creatorcontrib>Schwartz, Daniel</creatorcontrib><creatorcontrib>Ayesha, Bibi</creatorcontrib><title>Severe hand pain as an extracardiac manifestation of transthyretin amyloidosis</title><title>BMJ case reports</title><addtitle>BMJ Case Rep</addtitle><addtitle>BMJ Case Rep</addtitle><description>Transthyretin amyloidosis is a multisystemic disease caused by the aggregation of amyloid fibrils, resulting in high morbidity and mortality in the presence of cardiac involvement. Patients often experience vague symptoms that make amyloidosis difficult to diagnose. Differential diagnosis for hand pain in a patient with systemic amyloidosis is broad. We present a patient with severe hand cramping and inability to perform activities of daily living. This preceded a new diagnosis of familial amyloid cardiomyopathy. The patient was a poor responder to systemic corticosteroids, anti-inflammatories and anticonvulsant therapy. Her unique presentation gives insight into a rare but debilitating disorder and the potential link between amyloidosis and other disease processes.</description><subject>Aged</subject><subject>Amyloid Neuropathies, Familial - complications</subject><subject>Amyloid Neuropathies, Familial - diagnosis</subject><subject>Amyloid Neuropathies, Familial - pathology</subject><subject>Amyloidosis</subject><subject>Anticonvulsants</subject><subject>arrhythmias</subject><subject>Atrophy</subject><subject>Cardiovascular Diseases - etiology</subject><subject>Case reports</subject><subject>Electrolytes</subject><subject>Family medical history</subject><subject>Female</subject><subject>Hand</subject><subject>Heart</subject><subject>Heart failure</subject><subject>Humans</subject><subject>Kidney diseases</subject><subject>Liver</subject><subject>Multiple myeloma</subject><subject>Muscle Cramp - etiology</subject><subject>musculoskeletal syndromes</subject><subject>Pain</subject><subject>Pain - etiology</subject><subject>Pathogenesis</subject><subject>peripheral nerve disease</subject><subject>Pulmonary hypertension</subject><subject>Rare Disease</subject><subject>Rheumatoid arthritis</subject><subject>rheumatology</subject><subject>Skin</subject><subject>Transplants & implants</subject><subject>Trauma</subject><subject>Ultrasonic imaging</subject><subject>Vitamin deficiency</subject><issn>1757-790X</issn><issn>1757-790X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqNkc1LBCEYxiWKiurcLQa6RDHlx6jjJYjoC6IOdegmzqity4xuOhvtf5_L1vYBQV4U3t_78Dw-AOwieIwQYSdNG0sMkSgxFozzFbCJOOUlF_Bp9dt7A-ykNIb5EFTVFVkHGwSxihKBN8Hdg3k10RQj5XUxUc4XKhXKF-ZtiKpVUTvVFr3yzpo0qMEFXwRb5JlPw2gWzTDf6GddcDokl7bBmlVdMjsf9xZ4vLx4PL8ub--vbs7PbsumEngoK1EzqClD2mhS66auK20Nta0wlPPKUo0gN1wzga1VFKtGUIi5QohRzTTZAqcL2cm06Y1ujc-OOjmJrldxJoNy8ufEu5F8Dq-S1Zjnf8kCBx8CMbxMczTZu9SarlPehGmSmMCaYggRyej-L3QcptHndHNKCIZEhTJ1sqDaGFKKxi7NICjnbcnclpy3JRdt5Y297xmW_Gc3GThcAE0__ofa0Re8NPgX_Q5sc6wS</recordid><startdate>20191001</startdate><enddate>20191001</enddate><creator>Patel, Sneha N</creator><creator>Koyoda, Sai Krishna</creator><creator>Schwartz, Daniel</creator><creator>Ayesha, Bibi</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><general>BMJ Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-6702-3352</orcidid></search><sort><creationdate>20191001</creationdate><title>Severe hand pain as an extracardiac manifestation of transthyretin amyloidosis</title><author>Patel, Sneha N ; Koyoda, Sai Krishna ; Schwartz, Daniel ; Ayesha, Bibi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b492t-49860d561ded38db884dfe5fc9e5774f5d107e7d692ffa52ab95027a1165d6d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Aged</topic><topic>Amyloid Neuropathies, Familial - complications</topic><topic>Amyloid Neuropathies, Familial - diagnosis</topic><topic>Amyloid Neuropathies, Familial - pathology</topic><topic>Amyloidosis</topic><topic>Anticonvulsants</topic><topic>arrhythmias</topic><topic>Atrophy</topic><topic>Cardiovascular Diseases - etiology</topic><topic>Case reports</topic><topic>Electrolytes</topic><topic>Family medical history</topic><topic>Female</topic><topic>Hand</topic><topic>Heart</topic><topic>Heart failure</topic><topic>Humans</topic><topic>Kidney diseases</topic><topic>Liver</topic><topic>Multiple myeloma</topic><topic>Muscle Cramp - etiology</topic><topic>musculoskeletal syndromes</topic><topic>Pain</topic><topic>Pain - etiology</topic><topic>Pathogenesis</topic><topic>peripheral nerve disease</topic><topic>Pulmonary hypertension</topic><topic>Rare Disease</topic><topic>Rheumatoid arthritis</topic><topic>rheumatology</topic><topic>Skin</topic><topic>Transplants & implants</topic><topic>Trauma</topic><topic>Ultrasonic imaging</topic><topic>Vitamin deficiency</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Patel, Sneha N</creatorcontrib><creatorcontrib>Koyoda, Sai Krishna</creatorcontrib><creatorcontrib>Schwartz, Daniel</creatorcontrib><creatorcontrib>Ayesha, Bibi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Proquest Nursing & Allied Health Source</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>BMJ case reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Patel, Sneha N</au><au>Koyoda, Sai Krishna</au><au>Schwartz, Daniel</au><au>Ayesha, Bibi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Severe hand pain as an extracardiac manifestation of transthyretin amyloidosis</atitle><jtitle>BMJ case reports</jtitle><stitle>BMJ Case Rep</stitle><addtitle>BMJ Case Rep</addtitle><date>2019-10-01</date><risdate>2019</risdate><volume>12</volume><issue>10</issue><spage>e229677</spage><pages>e229677-</pages><issn>1757-790X</issn><eissn>1757-790X</eissn><abstract>Transthyretin amyloidosis is a multisystemic disease caused by the aggregation of amyloid fibrils, resulting in high morbidity and mortality in the presence of cardiac involvement. Patients often experience vague symptoms that make amyloidosis difficult to diagnose. Differential diagnosis for hand pain in a patient with systemic amyloidosis is broad. We present a patient with severe hand cramping and inability to perform activities of daily living. This preceded a new diagnosis of familial amyloid cardiomyopathy. The patient was a poor responder to systemic corticosteroids, anti-inflammatories and anticonvulsant therapy. Her unique presentation gives insight into a rare but debilitating disorder and the potential link between amyloidosis and other disease processes.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>31645392</pmid><doi>10.1136/bcr-2019-229677</doi><orcidid>https://orcid.org/0000-0001-6702-3352</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Aged Amyloid Neuropathies, Familial - complications Amyloid Neuropathies, Familial - diagnosis Amyloid Neuropathies, Familial - pathology Amyloidosis Anticonvulsants arrhythmias Atrophy Cardiovascular Diseases - etiology Case reports Electrolytes Family medical history Female Hand Heart Heart failure Humans Kidney diseases Liver Multiple myeloma Muscle Cramp - etiology musculoskeletal syndromes Pain Pain - etiology Pathogenesis peripheral nerve disease Pulmonary hypertension Rare Disease Rheumatoid arthritis rheumatology Skin Transplants & implants Trauma Ultrasonic imaging Vitamin deficiency |
title | Severe hand pain as an extracardiac manifestation of transthyretin amyloidosis |
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