| Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation. | |
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MedLine Citation:
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PMID: 19592052 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 31-year-old man with no significant medical history presented with a 5-day history of progressive left upper quadrant abdominal pain. Physical examination revealed a tender guarded abdomen, no icterus, and bilateral corneal "arcus senilis"-like changes. Laboratory workup showed a mild normocytic, normochromic anemia; and target cells were seen in the peripheral blood smear. Serum was turbid; and the lipid profile showed elevated total cholesterol, low high-density lipoprotein cholesterol, and elevated triglycerides. Urinalysis revealed nephrotic range proteinuria with microhematuria. An abdominal computed tomographic scan demonstrated a homogeneously enlarged spleen. The patient was discharged after symptomatic treatment to be followed as an ambulatory patient. Several days later, he returned with severe left upper quadrant pain and was admitted to the surgical service for further evaluation. A splenectomy was performed for a suspected splenic lymphoma. Upon gross examination, spleen was moderately enlarged, weighing 780 g. Sectioning revealed a beefy red cut surface without gross lesions. Wright-Giemsa-stained touch imprints showed many sea-blue histiocytes. A renal biopsy was also performed, demonstrating focal segmental glomerular sclerosis and mesangial expansion with extramembranous and intramembranous deposition of lipids. In the absence of hematologic malignancy and in light of the abnormal lipid profile, a disorder of lipid metabolism was suspected. Histologic and ultrastructural findings in the kidney and spleen raised the likelihood of lecithin-cholesterol acyltransferase (LCAT) deficiency, which was confirmed by the markedly decreased serum LCAT activity and serum LCAT mass. We describe a case with the triad of splenomegaly with sea-blue histiocytes, nephropathy, and dyslipidemia in a patient with LCAT deficiency. |
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Authors:
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Mojdeh Naghashpour; Hernani Cualing |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-07-09 |
Journal Detail:
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Title: Metabolism: clinical and experimental Volume: 58 ISSN: 1532-8600 ISO Abbreviation: Metab. Clin. Exp. Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-09-21 Completed Date: 2009-10-09 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375267 Medline TA: Metabolism Country: United States |
Other Details:
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Languages: eng Pagination: 1459-64 Citation Subset: IM |
Affiliation:
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Division of Hematopathology and Laboratory Medicine, Department of Oncologic Science, H. Lee Moffitt Cancer Center, University of South Florida, USA. mojdeh.naghashpour@moffitt.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Blood Cell Count Dyslipidemias / blood*, complications Humans Kidney / pathology Kidney Diseases / complications, pathology* Lecithin Acyltransferase Deficiency / blood, complications, pathology* Liver / pathology Male Microscopy, Electron, Transmission Phosphatidylcholine-Sterol O-Acyltransferase / blood Sea-Blue Histiocyte Syndrome / complications, pathology* Spleen / pathology Splenomegaly / complications, pathology* Tomography, X-Ray Computed |
| Chemical | |
Reg. No./Substance:
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EC 2.3.1.43/Phosphatidylcholine-Sterol O-Acyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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