Symptoma

Lecithin Acyltransferase Deficiency

FLD

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]

  • 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]

    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]

  • 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]

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.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]

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]

[…] 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]

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]

Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases. [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]

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]