LCAT deficiency

LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.

Splenomegaly

Abnormal increased size of the spleen.


Total: 4

                       


(per page)
PMID (PMCID)
28508023
(5419245)
 OTHER
An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level.
Balwani MR, Ghodela VA, Kute VB, Shah PR, Patel HV, Gera DN, Vanikar A, Trivedi HL.
J Nephropharmacol. 2017;6(1):23-26.
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).
19592052
 MALE Adult
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation.
Naghashpour M, Cualing H.
Metabolism. 2009;58(10):1459-64.
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation.
19592052
 MALE Adult
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation.
Naghashpour M, Cualing H.
Metabolism. 2009;58(10):1459-64.
We describe a case with the triad of splenomegaly with sea-blue histiocytes, nephropathy, and dyslipidemia in a patient with LCAT deficiency.
11095479
 MALE Adult
Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].
Nguyen TT, Kruckeberg KE, O'Brien JF, Ji ZS, Karnes PS, Crotty TB, Hay ID, Mahley RW, O'Brien T.
J Clin Endocrinol Metab. 2000;85(11):4354-8.
Splenomegaly with sea-blue histiocytes is not associated with dyslipidemia, except in severe cases of hypertriglyceridemia, Tangier disease, or lecithin cholesterol acyltransferase deficiency.