Long-term use of a combination of atorvastatin and ezetimibe in children with homozygous familial hypercholesterolemia

Abstract

Background: Homozygous familial hypercholesterolemia (HoFH) is an underdiagnosed and undertreated genetic disorder of lipoprotein metabolism associated with mortality during young age due to accelerated atherosclerosis. There is limited data on the efficacy of lipid lowering therapies in HoFH. Methods: Medical records of 3 children with HoFH who received a combination of atorvastatin and ezetimibe for a mean duration of 11.6±1.5 years were retrospectively analysed. Results: There was a significant decrease in total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and triglyceride (TG) from the baseline levels (mean percent change in TC, LDL-C, TG and HDL-C of 58.5%, 56.2%, 67.5% and 29.7% respectively). Conclusions: We conclude that long-term use of a combination of atorvastatin and ezetimibe significantly lowers the plasma LDL-C concentrations in patients with HoFH without causing any significant adverse effects. Ours is the first study from India on long-term use of lipid modifying drug therapy in children with HoFH.

A novel homozygous variant in exon 10 of the <i>GALNT3</i> gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India

“…Differential diagnoses of HFTC include progressive osseous heteroplasia, Cole disease, benign tumoral calcinosis, porphyria cutanea tarda, normophosphatemic FTC, fibrodysplasia ossificans progressiva, iatrogenic tumoral calcinosis and connective tissue diseaseassociated tumoral calcinosis, which all have normophosphatemia (1,8). Very rarely, cutaneous or tendinous xanthomas of homozygous familial hypercholesterolemia needs differentiation from HFTC lesions (9,10). Diagnoses of chronic renal failure and pseudohypoparathyroidism were excluded, in our patient, using appropriate biochemical and hormonal investigations.…”

Characterisation of LDL receptor gene mutations in a North Indian cohort of children with homozygous familial hypercholesterolaemia

“…In many developed countries, genetic screening is routinely performed in families with FH, especially HoFH, which has helped in the characterisation of prevalent mutations in their populations and allowed the development of cost-effective diagnostic evaluation [ 7 , 8 ]. In India, however, children with FH are usually diagnosed and treated based on clinical criteria, and there are only limited data on the genetic diagnosis of FH [ 9 ]. One of the three previous genetic studies in children with HoFH was conducted on a patient population from Southwest India [ 10 ].…”

Benign calcinosis cutis

“…Calcinosis cutis may mimic cutaneous xanthomas, mycetoma, myositis ossificans and osteomalacia cutis. Cutaneous and tendon xanthomas usually occur in children with familial hypercholesterolemia (4). The other differential diagnoses were excluded by histopathology.…”