An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia
The author reports the case of a patient with an incomplete form of familial lipoprotein lipase deficiency associated with type I hyperlipoproteinemia manifesting an autosomal recessive pattern of inheritance. The patient presented with hepatosplenomegaly, abdominal pain, and fasting chylomicronemia...
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| Veröffentlicht in: | American journal of clinical pathology 1987-09, Vol.88 (3), p.369-373 |
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| container_end_page | 373 |
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| container_title | American journal of clinical pathology |
| container_volume | 88 |
| creator | BERGER, G. M. B |
| description | The author reports the case of a patient with an incomplete form of familial lipoprotein lipase deficiency associated with type I hyperlipoproteinemia manifesting an autosomal recessive pattern of inheritance. The patient presented with hepatosplenomegaly, abdominal pain, and fasting chylomicronemia. A Western diet elicited a steep increase in plasma triglyceride concentration and the appearance of floating chylomicrons over a clear infranatant in fasting plasma. Postheparin lipoprotein lipase activity was moderately reduced to 38% of control values. Adipose tissue lipoprotein lipase activity was 10% of normal, whereas his muscle enzyme activity was within the reference range. Two-dimensional electrophoresis of plasma apolipoproteins revealed the presence of normal activator (apolipoprotein C-II). These results confirm the importance of the adipose tissue enzyme for the clearance of diet-derived plasma triglycerides. |
| doi_str_mv | 10.1093/ajcp/88.3.369 |
| format | Article |
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M. B</creator><creatorcontrib>BERGER, G. M. B</creatorcontrib><description>The author reports the case of a patient with an incomplete form of familial lipoprotein lipase deficiency associated with type I hyperlipoproteinemia manifesting an autosomal recessive pattern of inheritance. The patient presented with hepatosplenomegaly, abdominal pain, and fasting chylomicronemia. A Western diet elicited a steep increase in plasma triglyceride concentration and the appearance of floating chylomicrons over a clear infranatant in fasting plasma. Postheparin lipoprotein lipase activity was moderately reduced to 38% of control values. Adipose tissue lipoprotein lipase activity was 10% of normal, whereas his muscle enzyme activity was within the reference range. Two-dimensional electrophoresis of plasma apolipoproteins revealed the presence of normal activator (apolipoprotein C-II). These results confirm the importance of the adipose tissue enzyme for the clearance of diet-derived plasma triglycerides.</description><identifier>ISSN: 0002-9173</identifier><identifier>EISSN: 1943-7722</identifier><identifier>DOI: 10.1093/ajcp/88.3.369</identifier><identifier>PMID: 3630977</identifier><identifier>CODEN: AJCPAI</identifier><language>eng</language><publisher>Chicago, IL: American Society of Clinical Pathologists</publisher><subject>Adipose Tissue - enzymology ; Adolescent ; Apolipoprotein C-I ; Apolipoproteins C - analysis ; Biological and medical sciences ; Dietary Fats - administration & dosage ; Disorders of blood lipids. Hyperlipoproteinemia ; Genes, Recessive ; Humans ; Hyperlipoproteinemia Type I - diet therapy ; Hyperlipoproteinemia Type I - enzymology ; Hyperlipoproteinemia Type I - genetics ; Hyperlipoproteinemias - genetics ; Isoenzymes - deficiency ; Lipoprotein Lipase - deficiency ; Male ; Medical sciences ; Metabolic diseases ; Muscles - enzymology ; Organ Specificity ; Pedigree</subject><ispartof>American journal of clinical pathology, 1987-09, Vol.88 (3), p.369-373</ispartof><rights>1988 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c317t-c81c6ea2fe8eb7255c2b20f483d55d2bb1cdfac12a9a92c521e59eedb2481a013</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7796605$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3630977$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>BERGER, G. M. B</creatorcontrib><title>An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia</title><title>American journal of clinical pathology</title><addtitle>Am J Clin Pathol</addtitle><description>The author reports the case of a patient with an incomplete form of familial lipoprotein lipase deficiency associated with type I hyperlipoproteinemia manifesting an autosomal recessive pattern of inheritance. The patient presented with hepatosplenomegaly, abdominal pain, and fasting chylomicronemia. A Western diet elicited a steep increase in plasma triglyceride concentration and the appearance of floating chylomicrons over a clear infranatant in fasting plasma. Postheparin lipoprotein lipase activity was moderately reduced to 38% of control values. Adipose tissue lipoprotein lipase activity was 10% of normal, whereas his muscle enzyme activity was within the reference range. Two-dimensional electrophoresis of plasma apolipoproteins revealed the presence of normal activator (apolipoprotein C-II). These results confirm the importance of the adipose tissue enzyme for the clearance of diet-derived plasma triglycerides.</description><subject>Adipose Tissue - enzymology</subject><subject>Adolescent</subject><subject>Apolipoprotein C-I</subject><subject>Apolipoproteins C - analysis</subject><subject>Biological and medical sciences</subject><subject>Dietary Fats - administration & dosage</subject><subject>Disorders of blood lipids. Hyperlipoproteinemia</subject><subject>Genes, Recessive</subject><subject>Humans</subject><subject>Hyperlipoproteinemia Type I - diet therapy</subject><subject>Hyperlipoproteinemia Type I - enzymology</subject><subject>Hyperlipoproteinemia Type I - genetics</subject><subject>Hyperlipoproteinemias - genetics</subject><subject>Isoenzymes - deficiency</subject><subject>Lipoprotein Lipase - deficiency</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Muscles - enzymology</subject><subject>Organ Specificity</subject><subject>Pedigree</subject><issn>0002-9173</issn><issn>1943-7722</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1987</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNkEtLAzEURoMotVaXLoUsxN20ecxMkmUpPgoFN7oOmcyNTck8TKZI_71TLMXVd-Ge-104CN1TMqdE8YXZ2X4h5ZzPeaku0JSqnGdCMHaJpoQQlikq-DW6SWlHCGWS5BM04SUnSogp2i5b7FvbNX2AAbDrYoM7h51pfPAm4OD7ro_dAL49ziYBrsF566G1B9xHSNAOvv3CP37Y4uHQA17j7Rjx3yU03tyiK2dCgrtTztDny_PH6i3bvL-uV8tNZjkVQ2YltSUY5kBCJVhRWFYx4nLJ66KoWVVRWztjKTPKKGYLRqFQAHXFckkNoXyGnv56x9_fe0iDbnyyEIJpodsnLYmSJaVqBLM_0MYupQhO99E3Jh40JfpoVh_Naik116PZkX84Fe-rBuozfVI57h9Pe5OsCS6a1vp0xoRQZUkK_gsMqYR_</recordid><startdate>19870901</startdate><enddate>19870901</enddate><creator>BERGER, G. M. B</creator><general>American Society of Clinical Pathologists</general><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>19870901</creationdate><title>An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia</title><author>BERGER, G. M. B</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c317t-c81c6ea2fe8eb7255c2b20f483d55d2bb1cdfac12a9a92c521e59eedb2481a013</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1987</creationdate><topic>Adipose Tissue - enzymology</topic><topic>Adolescent</topic><topic>Apolipoprotein C-I</topic><topic>Apolipoproteins C - analysis</topic><topic>Biological and medical sciences</topic><topic>Dietary Fats - administration & dosage</topic><topic>Disorders of blood lipids. Hyperlipoproteinemia</topic><topic>Genes, Recessive</topic><topic>Humans</topic><topic>Hyperlipoproteinemia Type I - diet therapy</topic><topic>Hyperlipoproteinemia Type I - enzymology</topic><topic>Hyperlipoproteinemia Type I - genetics</topic><topic>Hyperlipoproteinemias - genetics</topic><topic>Isoenzymes - deficiency</topic><topic>Lipoprotein Lipase - deficiency</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Muscles - enzymology</topic><topic>Organ Specificity</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>BERGER, G. M. B</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of clinical pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>BERGER, G. M. B</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia</atitle><jtitle>American journal of clinical pathology</jtitle><addtitle>Am J Clin Pathol</addtitle><date>1987-09-01</date><risdate>1987</risdate><volume>88</volume><issue>3</issue><spage>369</spage><epage>373</epage><pages>369-373</pages><issn>0002-9173</issn><eissn>1943-7722</eissn><coden>AJCPAI</coden><abstract>The author reports the case of a patient with an incomplete form of familial lipoprotein lipase deficiency associated with type I hyperlipoproteinemia manifesting an autosomal recessive pattern of inheritance. The patient presented with hepatosplenomegaly, abdominal pain, and fasting chylomicronemia. A Western diet elicited a steep increase in plasma triglyceride concentration and the appearance of floating chylomicrons over a clear infranatant in fasting plasma. Postheparin lipoprotein lipase activity was moderately reduced to 38% of control values. Adipose tissue lipoprotein lipase activity was 10% of normal, whereas his muscle enzyme activity was within the reference range. Two-dimensional electrophoresis of plasma apolipoproteins revealed the presence of normal activator (apolipoprotein C-II). These results confirm the importance of the adipose tissue enzyme for the clearance of diet-derived plasma triglycerides.</abstract><cop>Chicago, IL</cop><pub>American Society of Clinical Pathologists</pub><pmid>3630977</pmid><doi>10.1093/ajcp/88.3.369</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9173 |
| ispartof | American journal of clinical pathology, 1987-09, Vol.88 (3), p.369-373 |
| issn | 0002-9173 1943-7722 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_80986119 |
| source | MEDLINE; Oxford University Press Journals Digital Archive Legacy |
| subjects | Adipose Tissue - enzymology Adolescent Apolipoprotein C-I Apolipoproteins C - analysis Biological and medical sciences Dietary Fats - administration & dosage Disorders of blood lipids. Hyperlipoproteinemia Genes, Recessive Humans Hyperlipoproteinemia Type I - diet therapy Hyperlipoproteinemia Type I - enzymology Hyperlipoproteinemia Type I - genetics Hyperlipoproteinemias - genetics Isoenzymes - deficiency Lipoprotein Lipase - deficiency Male Medical sciences Metabolic diseases Muscles - enzymology Organ Specificity Pedigree |
| title | An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia |
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