Lecithin cholesterol acyltransferase deficiency: Difference between revisions
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==Overview== | ==Overview== | ||
==Historical Perspective== | ==Historical Perspective== | ||
*In 1967, Norum and Gjone described the disease for the first time in | *In 1967, Norum and Gjone described the disease for the first time in a patient from Norway with features of normochromic anemia, protienuria and corneal lipid deposits.<ref name="pmid6078131">{{cite journal| author=Norum KR, Gjone E| title=Familial serum-cholesterol esterification failure. A new inborn error of metabolism. | journal=Biochim Biophys Acta | year= 1967 | volume= 144 | issue= 3 | pages= 698-700 | pmid=6078131 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6078131 }} </ref> | ||
*In 1967, Norum and Gjone reported that | *In 1967, Norum and Gjone reported that two sisters of the affected patient had similar presentation along with low levels of cholesterol esters and lysolecithin in the serum, with increased total body cholesterol, triglyceride and phospholipid. Foam cells in the bone marrow and glomerulus were demonstrated on microscopy. Patients had absent hepatomegaly and normal tonsils differentiating it from liver disease causing the defect of esterification and Tangier disease.<ref name="pmid5669813">{{cite journal| author=Gjone E, Norum KR| title=Familial serum cholesterol ester deficiency. Clinical study of a patient with a new syndrome. | journal=Acta Med Scand | year= 1968 | volume= 183 | issue= 1-2 | pages= 107-12 | pmid=5669813 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5669813 }} </ref> | ||
==Demographics, Natural History and Complications== | ==Demographics, Natural History and Complications== | ||
Revision as of 17:40, 9 November 2016
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aravind Kuchkuntla, M.B.B.S[2] Synonyms and keywords: LCAT deficiency, dyslipoproteinemic corneal dystrophy, fish eye disease, Norum disease, partial LCAT deficiency
Overview
Historical Perspective
- In 1967, Norum and Gjone described the disease for the first time in a patient from Norway with features of normochromic anemia, protienuria and corneal lipid deposits.[1]
- In 1967, Norum and Gjone reported that two sisters of the affected patient had similar presentation along with low levels of cholesterol esters and lysolecithin in the serum, with increased total body cholesterol, triglyceride and phospholipid. Foam cells in the bone marrow and glomerulus were demonstrated on microscopy. Patients had absent hepatomegaly and normal tonsils differentiating it from liver disease causing the defect of esterification and Tangier disease.[2]
Demographics, Natural History and Complications
Pathophysiology
Pathogenesis
Genetics
- Autosomal Recessive
- Obligate Heterozygous patients have normal LCAT levels.
Microscopy
Classification
Diagnosis
History and Symptoms
Laboratory Findings
Others
Treatment
Medical Therapy
Surgical Therapy
References
- ↑ Norum KR, Gjone E (1967). "Familial serum-cholesterol esterification failure. A new inborn error of metabolism". Biochim Biophys Acta. 144 (3): 698–700. PMID 6078131.
- ↑ Gjone E, Norum KR (1968). "Familial serum cholesterol ester deficiency. Clinical study of a patient with a new syndrome". Acta Med Scand. 183 (1–2): 107–12. PMID 5669813.