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

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]

Target cells containing abnormally high amounts of unesterified cholesterol and lecithin are present. [ommbid.mhmedical.com]

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

• Anemia

  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]

  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]

  This defect results in low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of CORNEAL OPACITY, hemolytic anemia (ANEMIA, HEMOLYTIC), and PROTEINURIA. [definitions.net]

• Left Upper Quadrant Pain

  A 31-year-old man with no significant medical history presented with a 5-day history of progressive left upper quadrant abdominal pain. [ncbi.nlm.nih.gov]

• Long Arm

  Abstract Background: The lecithin:cholesterol acyltransferase ( LCAT ) gene is located on the long arm of chromosome 16 and encodes a highly conserved enzyme that catalyzes the formation of most plasma lipoprotein cholesteryl esters. [degruyter.com]

  The LCAT gene is organized into six exons interrupted by five introns and is located on the long arm of chromosome 16. Approximately 40 different mutations in the LCAT gene leading to either FLD or FED have been described to date. [ommbid.mhmedical.com]

  It is inherited in an autosomal recessive manner The disorder is caused by mutation(s) in the LCAT gene, which is located on the long arm of chromosome 16. [dovemed.com]

• Foot Ulcer

  The patient died of sepsis from foot ulcers 7 years after starting hemodialysis and 13 years after the diagnosis. Marked atherosclerosis characterized by medial calcification in small arteries was observed at autopsy. [ncbi.nlm.nih.gov]

• 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]

  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]

  […] 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]

  Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency (FLD, see this term) characterized by corneal opacities, anemia and renal insufficiency, and Fish-eye disease (FED, see this term) characterized by corneal opacities and [orpha.net]

• 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]

• 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]

  […] 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]

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

  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]

• Calcified Aortic Valve

  Echocardiogram demonstrated left ventricular ejection fraction of 55%, left ventricular hypertrophy and a mildly calcified aortic valve. [ndt.oxfordjournals.org]

• Hypertriglyceridemia

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

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

• Normocytic Normochromic Anemia

  Absence of this enzyme can result in a rare syndrome that includes diffuse corneal opacities, normocytic normochromic anemia, proteinuria, renal failure, and premature arteriosclerosis. [ncbi.nlm.nih.gov]

• Normocytic Anemia

  The gene encoding for LCAT has been mapped to chromosome 16q22.1, and several mutations of this gene cause LCAT deficiency which is inherited as an autosomal recessive trait and which is characterized by corneal opacities, normochromic normocytic anemia [ncbi.nlm.nih.gov]

  Signs and symptoms [ edit ] Symptoms of the familial form include visual impairment caused by diffuse corneal opacities, target cell hemolytic anemia, and renal failure. [en.wikipedia.org]

• Anisopoikilocytosis

  A mild haemolytic anaemia resulting from instability of the red blood cell membrane is observed, with anisopoikilocytosis, target cells and stomatocytes seen on peripheral blood film [ 5 ]. [ndt.oxfordjournals.org]

• Ventricular Hypertrophy

  Echocardiogram demonstrated left ventricular ejection fraction of 55%, left ventricular hypertrophy and a mildly calcified aortic valve. [ndt.oxfordjournals.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]

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

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]

[…] 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]

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]

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]

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

[…] 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]

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]

LCAT gene mutations that cause complete LCAT deficiency either prevent the production of LCAT or impair both alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. [ghr.nlm.nih.gov]

Lipid abnormalities usually recur after a renal transplant. [31] Prevention There are no screening recommendations for the disease. [wikidoc.org]

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]