Manish R Balwani
1*, Vijaykumar A Ghodela
1, Vivek B Kute
1, Pankaj R Shah
1, Himanshu V Patel
1, Dinesh N Gera
1, Aruna Vanikar
2, Hargovind L Trivedi
11 Department of Nephrology and Clinical Transplantation, Laboratory Medicine, Transfusion Services and Immunohematology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Ahmedabad, India
2 Department of Pathology, Laboratory Medicine, Transfusion Services and Immunohematology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences, Ahmedabad, India
Abstract
Clinical and biochemical manifestations of lecithin-cholesterol acyltransferase (LCAT) deficiency include an abnormal lipid profile (characterized by hypercholesterolemia with markedly decreased high-density lipoprotein cholesterol [HDL-C] and hypertriglyceridemia), corneal opacities, hematologic abnormalities (normochromic anemia of varying intensity), splenomegaly, variable early coronary artery disease and nephropathy (initially proteinuria followed by progressive deterioration of renal function). We presented a patient with nephrotic syndrome, which renal biopsy revealed classic features of LCAT deficiency. To our knowledge, the present case is the first reported case of LCAT deficiency presenting with symptoms related to nephrotic syndrome in a patient with no obvious family history without any corneal deposits and normal HDL-C levels.
Implication for health policy/practice/research/medical education:
Lecithin-cholesterol acyltransferase (LCAT) deficient patients may present with renal disease only even with normal high-density lipoprotein cholesterol (HDL-C) levels. Hence, it needs high index of suspicion for LCAT deficiency when renal biopsy is suggestive of lamellar foamy deposits in mesangium and capillary walls even if serum HDL-C levels are normal.
Please cite this paper as: Balwani MR, Ghodela VA, Kute VB, Shah PR, Patel HV, Gera DN, et al. An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level. J Nephropharmacol. 2017;6(1):23-26.