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Lecithin Acyltransferase Deficiency

FLD


Presentation

  • In the homozygote recessive condition, a central corneal haze caused by deposition of numerous minute gray dots was consistently present. In the heterozygote condition, arcuslike changes were present in some of the patients studied.[ncbi.nlm.nih.gov]
Anemia
  • Renal function generally stabilized or improved and the anemia improved.[ncbi.nlm.nih.gov]
Left Upper Quadrant Pain
  • 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.[ncbi.nlm.nih.gov]
Corneal Opacity
  • Both have corneal opacity, splenomegaly and mild hemolytic anemia. The brother, the older of the 2, also has significant proteinuria.[ncbi.nlm.nih.gov]
  • 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]
Arcus Senilis
  • 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.[ncbi.nlm.nih.gov]
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]
  • failure and vision deterioration are some of the potential complications of Complete LCAT Deficiency Disorder.[dovemed.com]
  • The kidney problems get worse over time and may eventually lead to kidney failure.[ghr.nlm.nih.gov]

Workup

  • 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]
  • 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]

Treatment

  • 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 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]
  • […] individuals with corneal opacities and severely reduced vision Dietary restriction of fat intake Exercise Medications to lower cholesterol ( statins ) Blood pressure medications ( angiotensin receptor blockers ) Last updated: 6/2/2017 The long-term outlook ( prognosis[rarediseases.info.nih.gov]

Etiology

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • […] 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]
  • 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]

Prevention

  • 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]
  • 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]
  • […] 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]
  • 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]

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