Presentation A deficiency of LCAT causes accumulation of unesterified cholesterol in certain body tissues. Cholesterol effluxes from cells as free cholesterol and is transported in HDL as esterified cholesterol. [ipfs.io]

Dialysis may be required for patients presenting with renal failure, and kidney transplant may be considered. [en.wikipedia.org]

Patients with FLD and fish-eye disease frequently present with corneal opacity, anemia and renal failure with proteinuria. [degruyter.com]

Multilaminar figures were present, and total lipid extracts were enriched with phospholipid and cholesterol; cholesteryl esters were reduced, and accounted for about 12% of the cholesterol. [ncbi.nlm.nih.gov]

• Anemia

  Symptoms of the familial form include diffuse corneal opacities, target cell hemolytic anemia and proteinuria with renal failure. Fish eye disease only causes progressive corneal opacification. [ipfs.io]

  Renal function generally stabilized or improved and the anemia improved. [ncbi.nlm.nih.gov]

  […] reversibly transfers an acyl residue from a lecithin to cholesterol, forming a 1-acylglycerophosphocholine (a lysolecithin) and a cholesteryl ester; a deficiency of this enzyme leads to accumulation of unesterified cholesterol in plasma resulting in anemia [medical-dictionary.thefreedictionary.com]

  Patients with FLD and fish-eye disease frequently present with corneal opacity, anemia and renal failure with proteinuria. [degruyter.com]

• Fishing

  Fish eye disease only causes progressive corneal opacification. [ipfs.io]

  "fish-eye disease". Genetics Home Reference. Retrieved 2016-12-11. ^ Contacos, C; Sullivan, D. R.; Rye, K. A.; Funke, H; Assmann, G (1996). [en.wikipedia.org]

  Fish eye disease is characterized by partial reduction of LCAT and only manifests as progressive corneal opacification. Occurrence Familial LCAT deficiency and fish eye disease are rare. [emedicine.medscape.com]

• Camping

  Protein Sci. 1995 Apr;4(4):791-803. [ PubMed:7613477 ] Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. [hmdb.ca]

• Hepatosplenomegaly

  Signs and symptoms In complete LCAT deficiency patients may present with Anemia, Corneal opacities, Hepatosplenomegaly, renal insufficiency while in partial deficiency (fish eye disease) corneal opacities is the main finding with hepatosplenomegaly. [ipfs.io]

  Patients with partial LCAT deficiency may present with anemia and hepatosplenomegaly (main finding). [enerca.org]

  The clinical features of TD are hepatosplenomegaly, large yellow-orange tonsils or history of tonsillectomy, hemolytic anemia, neuropathy, mild corneal opacity and an increased prevalence of coronary heart disease (CHD) or stroke (2, 3). [endocrinologiapediatrica.org]

  Signs and symptoms include large tonsils, hepatosplenomegaly, lymphadenopathy, and hypocholesterolemia. An autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol and fat-soluble vitamins. [icd10data.com]

• Corneal Opacity

  Signs and symptoms In complete LCAT deficiency patients may present with Anemia, Corneal opacities, Hepatosplenomegaly, renal insufficiency while in partial deficiency (fish eye disease) corneal opacities is the main finding with hepatosplenomegaly. [ipfs.io]

  […] in high-density lipoproteins; deficiency of enzyme activity, an inherited disorder, results in accumulation of cholesterol and phosphatidylcholine in plasma and tissues, which causes corneal opacities, anemia, and often proteinuria. [medical-dictionary.thefreedictionary.com]

  Patients with FLD and fish-eye disease frequently present with corneal opacity, anemia and renal failure with proteinuria. [degruyter.com]

  FLD is characterized by corneal opacities, anemia, and proteinuria that may progress to renal failure. [ommbid.mhmedical.com]

  Both have corneal opacity, splenomegaly and mild hemolytic anemia. The brother, the older of the 2, also has significant proteinuria. [ncbi.nlm.nih.gov]

• Corneal Infiltrate

  A 20-year-old male of Indian extraction presented with visual impairment principally due to bilateral diffuse punctate corneal infiltration, with peripheral ring opacities. [tandfonline.com]

• Renal Insufficiency

  Signs and symptoms In complete LCAT deficiency patients may present with Anemia, Corneal opacities, Hepatosplenomegaly, renal insufficiency while in partial deficiency (fish eye disease) corneal opacities is the main finding with hepatosplenomegaly. [ipfs.io]

  She has proteinuria, HTA, hematuria, no renal insufficiency. Signs previously unreported were noted: sensorineural hearing loss and platelet environment disorder. [ncbi.nlm.nih.gov]

  Renal insufficiency is often observed from the second or third decade of life and may present with proteinuria. Renal disease may progress to end-stage renal failure requiring hemodialysis and/or kidney transplantation. [orpha.net]

• Kidney Failure

  It is characterized by cloudiness of the clear front surface of the eye ( corneal opacities), a shortage of red blood cells ( hemolytic anemia ), and kidney failure. [rarediseases.info.nih.gov]

  The condition is characterized by corneal disorders, anemia, protein in the urine and ultimately, kidney failure. [checkorphan.org]

  […] to fat deposits in the glomeruli, and premature breakdown of red blood cells leading to anemia Kidney failure and vision deterioration are some of the potential complications of Complete LCAT Deficiency Disorder. [dovemed.com]

  People with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. [ghr.nlm.nih.gov]

Laboratory workup showed a mild normocytic, normochromic anemia; and target cells were seen in the peripheral blood smear. [ncbi.nlm.nih.gov]

• Hypertriglyceridemia

  In 2 patients hypertriglyceridemia and hypercholesterolemia were present, the latter because of an increase in unesterified cholesterol. [ncbi.nlm.nih.gov]

  Its primary aim was to determine CETP activities in patients with hypertriglyceridemia and to correlate these activities with HDL-cholesterol levels. Hypertriglyceridemia was defined as plasma total triglycerides in the range of 200 to 500 mg/dL. [ahajournals.org]

  Patients may present with HDL deficiency, corneal opacification, hemolytic anemia, hypertension, hypertriglyceridemia, and proteinuria. [emedicine.medscape.com]

• Dyslipidemia

  Patients with classic FLD develop nephrotic syndrome progressing to end-stage renal disease (ESRD), corneal opacities, dyslipidemia and hemolytic anemia. FED is a milder form of the disease associated with corneal opacity and dyslipidemia. [indianjnephrol.org]

  The results suggest the role of inflammatory processes as well as dyslipidemia in the pathogenesis of glomerular disorders in LCAT-deficient patients. [ncbi.nlm.nih.gov]

  Familial lecithin-cholesterol acyltransferase deficiency] Nippon-Rinsho. 2001 Mar; 59 Suppl 3: 290-4 Maeda,-E [Familial lecithin-cholesterol acyltransferase deficiency] Nippon-Rinsho. 2001 Mar; 59 Suppl 3: 88-9 Rader,-D-J; Tietge,-U-J Gene therapy for dyslipidemia [malattierare.regione.veneto.it]

  N05.9 ICD-10-CM Diagnosis Code N05.9 Unspecified nephritic syndrome with unspecified morphologic changes 2016 2017 2018 2019 Billable/Specific Code familial lecithin cholesterol acyltransferase deficiency E78.6 lipoprotein deficiency E78.6 (familial) Dyslipidemia [icd10data.com]

• Hypercholesterolemia

  Indeed hypoalphalipoproteinemia appears to be a disease of high prevalence approaching and perhaps even exceeding that of familial hypercholesterolemia. [books.google.com]

  In 2 patients hypertriglyceridemia and hypercholesterolemia were present, the latter because of an increase in unesterified cholesterol. [ncbi.nlm.nih.gov]

  E78.01 Familial hypercholesterolemia E78.1 Pure hyperglyceridemia E78.2 Mixed hyperlipidemia E78.3 Hyperchylomicronemia E78.4 Other hyperlipidemia E78.41 Elevated Lipoprotein(a) E78.49 Other hyperlipidemia E78.5 Hyperlipidemia, unspecified E78.6 Lipoprotein [icd10data.com]

  Effects of vitamin E and HMG-CoA reductase inhibition on cholesteryl ester transfer protein and lecithin-cholesterol acyltransferase in hypercholesterolemia [14]. [wikigenes.org]

  Enhanced cholesteryl ester transfer protein activities and abnormalities of high density lipoproteins in familial hypercholesterolemia. Horm Metab Res. 1992 ; 24 :284-288. [ahajournals.org]

This long-term observation indicates the efficacy of corticosteroids and renin-angiotensin-aldosterone system blockers in the treatment of proteinuria in patients with FLD. [ncbi.nlm.nih.gov]

Management and treatment Kidney function and visual acuity should be monitored in affected patients. Treatment for anemia and renal insufficiency is symptomatic. Hemodialysis or even kidney transplantation may be needed. [orpha.net]

Prognosis Prognosis is variable. End-stage renal disease is the most serious outcome. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis - Norum disease Not supplied. Treatment - Norum disease Not supplied. Resources - Norum disease Not supplied. [checkorphan.org]

[…] to end-stage renal disease may have a poor outcome Please find comprehensive information on Complete LCAT Deficiency Disorder regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis [dovemed.com]

Prognosis [ edit ] Renal failure is the major cause of morbidity and mortality in complete LCAT deficiency, while in partial deficiency (fish eye disease) major cause of morbidity is visual impairment due to corneal opacity. [en.wikipedia.org]

Aubie Angel Springer Science & Business Media, ٠٦‏/١٢‏/٢٠١٢ - 303 من الصفحات Current interest in lipoprotein deficiency states stems from the growing realization of their importance in the etiology of premature coronary heart disease. [books.google.com]

Etiology LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyzes the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). [orpha.net]

Summary Epidemiology Prevalence of LCAT deficiency is unknown. About 125 cases have been reported to date worldwide. Most cases were reported in Europe, Japan and Canada. [orpha.net]

Abstract Epidemiological as well as biochemical evidence of recent years has established that a low plasma level of high density lipoprotein-cholesterol is a predictor for the risk of coronary artery disease. [pnas.org]

Methods Statistics Trigonometry Medical & Nursing Anatomy Anesthesiology Audiology Bacteriology Biochemistry Bioethics Biomedical Science Cardiology Cardiovascular Childbirth Chiropractic Dentistry Dermatology Diagnostic Imaging Drugs Endocrinology Epidemiology [brainscape.com]

Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices. [books.google.com]

[…] found that the disease was named so because the cornea of the eye was so opaque or cloudy with dots of cholesterol that it resembled a boiled fish. [5] If an individual only carry one copy of the mutated gene, they typically do not show symptoms. [6] Pathophysiology [en.wikipedia.org]

[…] disorders or settings where the test may be helpful Establishing a diagnosis of lecithin-cholesterol acyltransferase deficiency Evaluating the extent of metabolic disturbance by bile stasis or liver disease Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

Tangier disease: epidemiology, pathophysiology and manegement. Am J Cardiovasc Drugs 2012;12:303-11. [Pubmed] [endocrinologiapediatrica.org]

Fish Eye Disease (FED): Loss of alpha LCAT function with preserved beta function. [9] Pathophysiology Pathogenesis LCAT deficiency is caused by a mutation in the LCAT gene, resulting in disruption of the reverse cholesterol transport. [wikidoc.org]

Prevention - Norum disease Not supplied. Diagnosis - Norum disease signs and symptoms of Norum disease may vary on an individual basis for each patient. [checkorphan.org]

Feeding the transgenic mice a high fat, high cholesterol diet maintained the mouse apoA-I concentration at a normal level (69 +/- 14 mg/dl in line 11.1 compared with 71 +/- 6 mg/dl in nontransgenic controls) and prevented the appearance of HDL deficiency [ncbi.nlm.nih.gov]

[…] progression to end-stage renal disease may have a poor outcome Please find comprehensive information on Complete LCAT Deficiency Disorder regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention [dovemed.com]

Please prevent freeze-thaw cycles. Other Notes Small volumes of LCAT recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. [mybiosource.com]