Familial combined hyperlipidemia in a North Indian kindred

Abstract

Familial combined hyperlipidemia is the most common genetic hyperlipidemia and is responsible for premature coronary artery disease. It is genetically heterogenous and no single diagnostic marker exists. The authors report an affected North Indian kindred spanning three successive generations with a possible autosomal dominant pattern of inheritance and all of them had combined dyslipidemia [elevated total cholesterol, predominantly the low density lipoprotein (LDL) fraction and elevated triglycerides]. The proband, a 4-month-old male baby, was incidentally discovered to have a lipaemic serum and so further evaluated. Both the index case and his maternal grandmother, a non-obese diabetic (type 2) with hypertension, had an atherogenic lipoprotein phenotype. Lipaemia retinalis was documented in this baby but xanthomas and coronary artery disease were not noted in the kindred. The present case report highlights the failure of dietary therapy in the proband and explores new options.

Chylous aqueous humor caused by hyperlipidemia: A case report and literature review

“…Lipemia retinalis is one of its clinical characteristic of types I and V hyperlipidemia. [8] Type V hyperlipidemia is more commonly found in adults and has a mostly polygenic inheritance, with an incidence of approximately 1:600. It can be familial or secondary to various causes, common predisposing factors include poor diet, alcohol ingestion, poorly controlled diabetes, hypothyroidism, and nephrotic syndrome.…”

Lipemia retinalis in a 27 day old neonate: A case report

“…This condition should be ruled out in any child presenting with high levels of serum total cholesterol and serum triglycerides, with a positive family history of hyperlipidemia, as there is no single diagnostic marker for this condition. [427]…”

“…[23] However, it may also be one of the manifestations of familial combined hyperlipidemia, which has a prevalence of 1--2% in the general population. [4] The characteristic fundoscopic changes include retinal blood vessel discoloration, which ranges from salmon pink to creamish white, depending on the level of plasma triglycerides. [1] Fundus changes become evident when the triglyceride levels exceed 2,500 mg/dl.…”

Lipaemia Retinalis

“…To the best of our knowledge on literature search, only 10 cases have been reported in infants. [10][11][12][13][14][15][16][17][18][19] Few case reports may be explained due to lack of routine fundus examination and the rarity of clinical symptoms at a young age. Lipaemia retinalis usually has no effects on the visual acuity, even with extensive involvement of the vessels and, may be underdiagnosed.…”