Systemic lupus erythematosus presenting as thrombotic thrombocytopaenic purpura in a child: a diagnostic challenge
Thrombotic thrombocytopaenic purpura (TTP) is a life-threatening thrombotic microangiopathy characterised by microangiopathic haemolytic anaemia, thrombocytopaenia and organ ischaemia. TTP is caused by a severe functional deficiency of ADAMTS13 activity. We describe a 10-year-old girl presenting ana...
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| description | Thrombotic thrombocytopaenic purpura (TTP) is a life-threatening thrombotic microangiopathy characterised by microangiopathic haemolytic anaemia, thrombocytopaenia and organ ischaemia. TTP is caused by a severe functional deficiency of ADAMTS13 activity. We describe a 10-year-old girl presenting anaemia and thrombocytopaenia with schistocytes. Urine protein to creatinine ratio was within nephrotic range. ADAMTS13 activity was 0%, and no anti-ADAMTS13 antibodies were found. A renal biopsy showed deposits of IgG, C3 and C1q in the capillary membrane, compatible with class V lupus nephritis. Therapeutic plasma exchange (TPE) was performed in conjunction with therapy consisting of steroids and mycophenolate mofetil. After 11 months of follow-up, the patient remains in remission with normal ADAMTS13 activity. Although acquired TTP is a rare finding in children, differential diagnosis of thrombotic microangiopathy should include ADAMTS13 and the assay should be performed early. TTP treatment is based on TPE, although the underlying disease must be ruled out to optimise treatment and prevent relapse. |
| doi_str_mv | 10.1136/bcr-2019-232002 |
| format | Article |
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TTP is caused by a severe functional deficiency of ADAMTS13 activity. We describe a 10-year-old girl presenting anaemia and thrombocytopaenia with schistocytes. Urine protein to creatinine ratio was within nephrotic range. ADAMTS13 activity was 0%, and no anti-ADAMTS13 antibodies were found. A renal biopsy showed deposits of IgG, C3 and C1q in the capillary membrane, compatible with class V lupus nephritis. Therapeutic plasma exchange (TPE) was performed in conjunction with therapy consisting of steroids and mycophenolate mofetil. After 11 months of follow-up, the patient remains in remission with normal ADAMTS13 activity. Although acquired TTP is a rare finding in children, differential diagnosis of thrombotic microangiopathy should include ADAMTS13 and the assay should be performed early. TTP treatment is based on TPE, although the underlying disease must be ruled out to optimise treatment and prevent relapse.</description><identifier>ISSN: 1757-790X</identifier><identifier>EISSN: 1757-790X</identifier><identifier>DOI: 10.1136/bcr-2019-232002</identifier><identifier>PMID: 32878846</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>ADAMTS13 Protein - analysis ; ADAMTS13 Protein - deficiency ; ADAMTS13 Protein - genetics ; Anemia ; Antibodies ; Biopsy ; Blood platelets ; Case reports ; Child ; Congenital diseases ; Creatinine ; Dehydrogenases ; Diagnosis, Differential ; Disease ; Female ; Glucocorticoids - therapeutic use ; haematology (drugs and medicines) ; Hematology ; Hepatitis ; Humans ; Ischemia ; Kidney - pathology ; Kidneys ; Lupus ; Lupus Nephritis - blood ; Lupus Nephritis - complications ; Lupus Nephritis - diagnosis ; Lupus Nephritis - therapy ; Medical diagnosis ; Molecular weight ; Mutation ; Mycophenolic Acid - therapeutic use ; paediatric prescribing ; Pathogenesis ; Patients ; Pediatrics ; Plasma ; Plasma Exchange ; Proteins ; Purpura ; Purpura, Thrombotic Thrombocytopenic - blood ; Purpura, Thrombotic Thrombocytopenic - diagnosis ; Purpura, Thrombotic Thrombocytopenic - etiology ; Purpura, Thrombotic Thrombocytopenic - therapy ; Rare Disease ; Sequence Analysis, DNA ; Steroids ; Treatment Outcome</subject><ispartof>BMJ case reports, 2020-09, Vol.13 (9), p.e232002</ispartof><rights>BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.</rights><rights>2020 BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.</rights><rights>BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b492t-2045e420e953c45b41c7070e24821d0990c74e0cbe773af8ab8c752fe4c57f2a3</citedby><cites>FETCH-LOGICAL-b492t-2045e420e953c45b41c7070e24821d0990c74e0cbe773af8ab8c752fe4c57f2a3</cites><orcidid>0000-0002-5444-8076</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/PMC7470485/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7470485/$$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/32878846$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Orbe Jaramillo, Irene Alejandra</creatorcontrib><creatorcontrib>De Lucas Collantes, Carmen</creatorcontrib><creatorcontrib>Martínez de Azagra, Amelia</creatorcontrib><creatorcontrib>Sebastián, Elena</creatorcontrib><title>Systemic lupus erythematosus presenting as thrombotic thrombocytopaenic purpura in a child: a diagnostic challenge</title><title>BMJ case reports</title><addtitle>BMJ Case Rep</addtitle><addtitle>BMJ Case Rep</addtitle><description>Thrombotic thrombocytopaenic purpura (TTP) is a life-threatening thrombotic microangiopathy characterised by microangiopathic haemolytic anaemia, thrombocytopaenia and organ ischaemia. TTP is caused by a severe functional deficiency of ADAMTS13 activity. We describe a 10-year-old girl presenting anaemia and thrombocytopaenia with schistocytes. Urine protein to creatinine ratio was within nephrotic range. ADAMTS13 activity was 0%, and no anti-ADAMTS13 antibodies were found. A renal biopsy showed deposits of IgG, C3 and C1q in the capillary membrane, compatible with class V lupus nephritis. Therapeutic plasma exchange (TPE) was performed in conjunction with therapy consisting of steroids and mycophenolate mofetil. After 11 months of follow-up, the patient remains in remission with normal ADAMTS13 activity. Although acquired TTP is a rare finding in children, differential diagnosis of thrombotic microangiopathy should include ADAMTS13 and the assay should be performed early. TTP treatment is based on TPE, although the underlying disease must be ruled out to optimise treatment and prevent relapse.</description><subject>ADAMTS13 Protein - analysis</subject><subject>ADAMTS13 Protein - deficiency</subject><subject>ADAMTS13 Protein - genetics</subject><subject>Anemia</subject><subject>Antibodies</subject><subject>Biopsy</subject><subject>Blood platelets</subject><subject>Case reports</subject><subject>Child</subject><subject>Congenital diseases</subject><subject>Creatinine</subject><subject>Dehydrogenases</subject><subject>Diagnosis, Differential</subject><subject>Disease</subject><subject>Female</subject><subject>Glucocorticoids - therapeutic use</subject><subject>haematology (drugs and medicines)</subject><subject>Hematology</subject><subject>Hepatitis</subject><subject>Humans</subject><subject>Ischemia</subject><subject>Kidney - pathology</subject><subject>Kidneys</subject><subject>Lupus</subject><subject>Lupus Nephritis - blood</subject><subject>Lupus Nephritis - complications</subject><subject>Lupus Nephritis - diagnosis</subject><subject>Lupus Nephritis - therapy</subject><subject>Medical diagnosis</subject><subject>Molecular weight</subject><subject>Mutation</subject><subject>Mycophenolic Acid - therapeutic use</subject><subject>paediatric prescribing</subject><subject>Pathogenesis</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>Plasma</subject><subject>Plasma Exchange</subject><subject>Proteins</subject><subject>Purpura</subject><subject>Purpura, Thrombotic Thrombocytopenic - blood</subject><subject>Purpura, Thrombotic Thrombocytopenic - diagnosis</subject><subject>Purpura, Thrombotic Thrombocytopenic - etiology</subject><subject>Purpura, Thrombotic Thrombocytopenic - therapy</subject><subject>Rare Disease</subject><subject>Sequence Analysis, DNA</subject><subject>Steroids</subject><subject>Treatment Outcome</subject><issn>1757-790X</issn><issn>1757-790X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqNkUuLFDEUhYMozjDO2p0UuBGlnDw7iYsBGXzBgAsV3IVU-lZXmqqkTFJC_3vTdtuOgmAI5Cb57uEeDkKPCX5JCFtddS61FBPdUkYxpvfQOZFCtlLjr_fv1GfoMuctrosRrjh7iM4YVVIpvjpH6dMuF5i8a8ZlXnIDaVcGmGyJud7mBBlC8WHT2NyUIcWpi6XCx9LtSpwthPoyL6lu2_jQ2MYNfly_qsXa202Ied_iBjuOEDbwCD3o7Zjh8nheoC9v33y-ed_efnz34eb1bdtxTUt1xgVwikEL5rjoOHESSwyUK0rWWGvsJAfsOpCS2V7ZTjkpaA_cCdlTyy7Q9UF3XroJ1q4aSXY0c_KTTTsTrTd__gQ_mE38biSXmCtRBZ4dBVL8tkAuZvLZwTjaAHHJhnKmtRRCq4o-_QvdxiWFau8nJbVaCVmpqwPlUsw5QX8ahmCzj9TUSM0-UnOItHY8uevhxP8KsALPD0A3bf9D7cVv-DTgv-gfMQS5yQ</recordid><startdate>20200902</startdate><enddate>20200902</enddate><creator>Orbe Jaramillo, Irene Alejandra</creator><creator>De Lucas Collantes, Carmen</creator><creator>Martínez de Azagra, Amelia</creator><creator>Sebastián, Elena</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/0000-0002-5444-8076</orcidid></search><sort><creationdate>20200902</creationdate><title>Systemic lupus erythematosus presenting as thrombotic thrombocytopaenic purpura in a child: a diagnostic challenge</title><author>Orbe Jaramillo, Irene Alejandra ; De Lucas Collantes, Carmen ; Martínez de Azagra, Amelia ; Sebastián, Elena</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b492t-2045e420e953c45b41c7070e24821d0990c74e0cbe773af8ab8c752fe4c57f2a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>ADAMTS13 Protein - analysis</topic><topic>ADAMTS13 Protein - deficiency</topic><topic>ADAMTS13 Protein - genetics</topic><topic>Anemia</topic><topic>Antibodies</topic><topic>Biopsy</topic><topic>Blood platelets</topic><topic>Case reports</topic><topic>Child</topic><topic>Congenital diseases</topic><topic>Creatinine</topic><topic>Dehydrogenases</topic><topic>Diagnosis, Differential</topic><topic>Disease</topic><topic>Female</topic><topic>Glucocorticoids - therapeutic use</topic><topic>haematology (drugs and medicines)</topic><topic>Hematology</topic><topic>Hepatitis</topic><topic>Humans</topic><topic>Ischemia</topic><topic>Kidney - pathology</topic><topic>Kidneys</topic><topic>Lupus</topic><topic>Lupus Nephritis - blood</topic><topic>Lupus Nephritis - complications</topic><topic>Lupus Nephritis - diagnosis</topic><topic>Lupus Nephritis - therapy</topic><topic>Medical diagnosis</topic><topic>Molecular weight</topic><topic>Mutation</topic><topic>Mycophenolic Acid - therapeutic use</topic><topic>paediatric prescribing</topic><topic>Pathogenesis</topic><topic>Patients</topic><topic>Pediatrics</topic><topic>Plasma</topic><topic>Plasma Exchange</topic><topic>Proteins</topic><topic>Purpura</topic><topic>Purpura, Thrombotic Thrombocytopenic - blood</topic><topic>Purpura, Thrombotic Thrombocytopenic - diagnosis</topic><topic>Purpura, Thrombotic Thrombocytopenic - etiology</topic><topic>Purpura, Thrombotic Thrombocytopenic - therapy</topic><topic>Rare Disease</topic><topic>Sequence Analysis, DNA</topic><topic>Steroids</topic><topic>Treatment Outcome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Orbe Jaramillo, Irene Alejandra</creatorcontrib><creatorcontrib>De Lucas Collantes, Carmen</creatorcontrib><creatorcontrib>Martínez de Azagra, Amelia</creatorcontrib><creatorcontrib>Sebastián, Elena</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>Nursing & Allied Health Database</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>Orbe Jaramillo, Irene Alejandra</au><au>De Lucas Collantes, Carmen</au><au>Martínez de Azagra, Amelia</au><au>Sebastián, Elena</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Systemic lupus erythematosus presenting as thrombotic thrombocytopaenic purpura in a child: a diagnostic challenge</atitle><jtitle>BMJ case reports</jtitle><stitle>BMJ Case Rep</stitle><addtitle>BMJ Case Rep</addtitle><date>2020-09-02</date><risdate>2020</risdate><volume>13</volume><issue>9</issue><spage>e232002</spage><pages>e232002-</pages><issn>1757-790X</issn><eissn>1757-790X</eissn><abstract>Thrombotic thrombocytopaenic purpura (TTP) is a life-threatening thrombotic microangiopathy characterised by microangiopathic haemolytic anaemia, thrombocytopaenia and organ ischaemia. TTP is caused by a severe functional deficiency of ADAMTS13 activity. We describe a 10-year-old girl presenting anaemia and thrombocytopaenia with schistocytes. Urine protein to creatinine ratio was within nephrotic range. ADAMTS13 activity was 0%, and no anti-ADAMTS13 antibodies were found. A renal biopsy showed deposits of IgG, C3 and C1q in the capillary membrane, compatible with class V lupus nephritis. Therapeutic plasma exchange (TPE) was performed in conjunction with therapy consisting of steroids and mycophenolate mofetil. After 11 months of follow-up, the patient remains in remission with normal ADAMTS13 activity. Although acquired TTP is a rare finding in children, differential diagnosis of thrombotic microangiopathy should include ADAMTS13 and the assay should be performed early. TTP treatment is based on TPE, although the underlying disease must be ruled out to optimise treatment and prevent relapse.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>32878846</pmid><doi>10.1136/bcr-2019-232002</doi><orcidid>https://orcid.org/0000-0002-5444-8076</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | ADAMTS13 Protein - analysis ADAMTS13 Protein - deficiency ADAMTS13 Protein - genetics Anemia Antibodies Biopsy Blood platelets Case reports Child Congenital diseases Creatinine Dehydrogenases Diagnosis, Differential Disease Female Glucocorticoids - therapeutic use haematology (drugs and medicines) Hematology Hepatitis Humans Ischemia Kidney - pathology Kidneys Lupus Lupus Nephritis - blood Lupus Nephritis - complications Lupus Nephritis - diagnosis Lupus Nephritis - therapy Medical diagnosis Molecular weight Mutation Mycophenolic Acid - therapeutic use paediatric prescribing Pathogenesis Patients Pediatrics Plasma Plasma Exchange Proteins Purpura Purpura, Thrombotic Thrombocytopenic - blood Purpura, Thrombotic Thrombocytopenic - diagnosis Purpura, Thrombotic Thrombocytopenic - etiology Purpura, Thrombotic Thrombocytopenic - therapy Rare Disease Sequence Analysis, DNA Steroids Treatment Outcome |
| title | Systemic lupus erythematosus presenting as thrombotic thrombocytopaenic purpura in a child: a diagnostic challenge |
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