Name
LECITHIN-CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
DESCRIPTION
DETAIL
D.D. : - HYPERCHOLESTEROLEMIA - HYPERTRIGLYCERIDEMIA - FAMILIAL DYSLIPIDEMIA - FAMILIAL HYPOALPHALIPOPROTEINEMIA - TANGIER DISEASEFAMILIAL LCAT DEFICIENCY : * CBC COUNT - NORMOCHROMIC NORMOCYTIC ANEMIA WITH ANISOPOIKILOCYTOSIS, TARGET CELLS, STOMATOCYTES & HAEMATOLOGICAL EVIDENCE OF HAEMOLYSIS MAY BE PRESENT * URINE - PROTEINURIA, LESS COMMON - HYALINE & GRANULAR CAST * SERUM CREATININE, BUN - INCREASED IN SOME PATIENTS * SERUM HDL - LOW ( < 10 MG% ) * PLASMA UNESTERIFIED ( FREE ) CHOLESTROL - HIGH * PLASMA CHOLESTROL ESTER - LOW * LDL CHOLESTROL & TRIGLYCERIDES - HIGH FISH EYE DISEASE : * CBC COUNT - NO ANEMIA * URINE TEST - NO PROTEINURIA * RENAL FUNCTION TEST - NORMAL * HDL CHOLESTROL - LOW * UNESTERIFIED ( FREE ) CHOLESTROL IN HDL - HIGH * CHOLESTROL ESTER IN HDL - LOW BUT NORMAL IN VLDL & LDL * SERUM LDL & TRIGLYCERIDES LEVELS - HIGH
TYPENOTES
Medical Care Symptomatic treatment for anemia, renal insufficiency, and atherosclerosis is indicated. " LCAT gene therapy or liver transplantation theoretically would be a treatment of choice to correct the underlying pathophysiology, but neither procedure has been reported. " " Short-term whole blood or plasma transfusion has been tried to replace the LCAT enzyme in some patients with familial LCAT deficiency, but it did not correct anemia, proteinuria, or lipoprotein abnormalities. " " Renal replacement by dialysis is necessary in those individuals who develop kidney failure. Surgical Care " Kidney transplantation is indicated in patients with familial LCAT deficiency and renal failure. " " Corneal transplantation is indicated in patients with corneal opacities with severely reduced vision. " . Diet Restriction of fat intake may be advisable in patients with familial LCAT deficiency, but no evidence supports its potential benefits. Activity Because of the small but measurable risk of atherosclerosis in persons with LCAT deficiency, exercise, under the guidance of a physician, theoretically would have a role in prevention of this complication. Further Outpatient Care " Familial LCAT deficiency " o Monitor renal function. This includes monitoring blood pressure, plasma BUN and creatinine values, 24-hour urine protein levels, and creatinine clearance. o Monitor visual acuity. " Fish eye disease: Corneal opacities may impair visual function. Complications " Renal failure " " Reduced vision from corneal opacities " " Premature atherosclerosis " " Anemia Prognosis " Renal transplantation has been reported to be successful in some patients with familial LCAT deficiency, but it does not reverse the serum lipoprotein abnormalities or correct the anemia. " " The risk of premature atherosclerosis associated with both familial LCAT deficiency and fish eye disease is only modestly increased. NO SPECIFIC DRUG TREATMENT
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
BLOOD UREA, URINE ROUTINE, BUN, COMPLETE BLOOD COUNT, LIPIDS PROFILE