cardiovascular disease in a paediatric patient with ... · a. cortesi ranzanici´,cardona leyda v....

A. Cortesi Ranzanici´,Cardona Leyda V. (2), Marimon Blanch C. (1), Ibarretxe Gerediaga D. (1), Rodríguez Borjabad C. (1), Escribano Subías J. (1), Albert Brotons D.C. (2) - (1) S. Joan University Hospital, Reus, Tarragona (Spain), (2) Vall d'Hebron Maternity and Children's Hospital, Barcelona CARDIOVASCULAR DISEASE IN A PAEDIATRIC PATIENT WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA An 8-year-old boy with multiple tuberous xanthomas and bilateral corneal arch is referred to our center because his parents are affected by heterozygous familial hypercholesterolemia. His lipid profile at presentation showed and cLDL blood levels of 672 mg/dl, without other biochemical abnormalities. Genetical analysis identified a homozygous rLDL mutation (p.Glu228-stop), confirming the diagnosis. At first, his clinical manifestations comprehended: Ergometry and myocardial perfusion studies were normal. He was started on rosuvastatin and ezetimibe, and also received acetylsalicylic acid prophylaxis, as well as biweekly sessions of lipid-apheresis, observing a decrease in LDL-C of 50%. Finally lomitapide was added to the treatment, with this a LDL decrease of 67% was achieved, being able to pass lipid-apheresis to monthly sessions. INTRODUCTION CASE REPORT Familial homozygous hypercholesterolemia (HFHo) is an autosomal dominant hereditary disease with a prevalence of 1:800.000. At present in Spain there are 7 children diagnosed. It is caused by mutations in the gene that codes for the LDL-C receptor, producing its total or almost total lack of activity. It can be diagnosed at birth, showing a total cholesterol (TC) of 700-1000 mg/dl, at the expense of LDL-C. In the first decade it is possible to detect xanthomas, corneal arch, atherosclerosis and, from the second decade on, an increase of mortality. Echo: Dilated LV (z-score +2.5), along with a mild aortic regurgitation + thickened non-coronary leaflet. AngioTC: soft atherosclerotic coronary plaques, with no stenosis, and a calcified atheromatous plaque in the ascending aorta. The initial treatment of HFHo includes dietary recommendations, lifestyle modification and lipid- lowering drugs, but the effectiveness is partial, so the LDL-apheresis is necessary to decrease the cardiovascular risk. Our case confirm that LDL-apheresis can be efficient by reducing atheromatosis and carotid disease, as well as the skin lesions. Coronary plaques potential evolution needs more time to be evaluated. CONCLUSIONS RBULB 2.1 mm LBULB 2.5 mm LICA 1.6 mm RICA 1.9 mm Atheromatous plaques at the carotid vascular US study 175 350 525 700 c-LDL mg/dL 17% 50% 67% CAP SIMVASTATINA (10) UVASMET ROSUVASTATINA (20) EZETIMIBA (10) AAS VitE + Omega3 LDL interapheresis lifestyle modification April 2014 October 2014 May 2014 2011 (Basal) Iron sulphate Biweekly LDL apheresis LDL apheresis + LOMITAPIDE

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Page 1: CARDIOVASCULAR DISEASE IN A PAEDIATRIC PATIENT WITH ... · A. Cortesi Ranzanici´,Cardona Leyda V. (2), Marimon Blanch C. (1), Ibarretxe Gerediaga D. (1), Rodríguez Borjabad C. (1),

CARDIOVASCULAR DISEASE IN A PAEDIATRIC PATIENT WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

An 8-year-old boy with multiple tuberous xanthomas and bilateral corneal arch is referred to our center because his parents are affected by heterozygous familial hypercholesterolemia. His lipid

profile at presentation showed and cLDL blood levels of 672 mg/dl, without other biochemical abnormalities. Genetical analysis identified a homozygous rLDL mutation (p.Glu228-stop), confirming the diagnosis. At first, his

clinical manifestations comprehended:

Ergometry and myocardial perfusion studies were normal. He was started on rosuvastatin and ezetimibe, and also received acetylsalicylic acid prophylaxis, as well as biweekly sessions of lipid-apheresis, observing a decrease in

LDL-C of 50%. Finally lomitapide was added to the treatment, with this a LDL decrease of 67% was achieved, being able to pass lipid-apheresis to monthly sessions.

INTRODUCTION

CASE REPORT

Familial homozygous hypercholesterolemia (HFHo) is an autosomal dominant hereditary disease with a prevalence of 1:800.000. At present

in Spain there are 7 children diagnosed. It is caused by mutations in the gene that codes for the LDL-C receptor, producing its total or almost total lack of activity. It can be diagnosed at birth, showing a total cholesterol (TC) of 700-1000 mg/dl, at the expense of

LDL-C. In the first decade it is possible to detect xanthomas, corneal arch, atherosclerosis and, from the second decade on, an increase of mortality.

Insuficiencia mitral leve Insuficiencia aórtica leve

ecocardiografía9a2014

Coronarias normales

ecocardiografía

Velo aórtico no coronario engrosado

9a2014

Echo: Dilated LV (z-score +2.5), along with a mild aortic regurgitation + thickened non-coronary leaflet. AngioTC: soft atherosclerotic coronary plaques, with no

stenosis, and a calcified atheromatous plaque in the ascending aorta.

The initial treatment of HFHo includes dietary recommendations, lifestyle modification and lipid-lowering drugs, but the effectiveness is partial, so the LDL-apheresis is necessary to decrease the cardiovascular risk. Our case confirm that LDL-apheresis can be efficient by reducing atheromatosis and carotid disease, as well as

the skin lesions. Coronary plaques potential evolution needs more time to be evaluated.

Mayo 2014angioTAC

CONCLUSIONS

RBULB 2.1 mm

2014 2018

1.6 mmLBULB 2.5 mm LICA 1.6 mm

RICA 1.9 mm

estudio vascular carotídeo

RBULB 1.6 mm RICA 1.2 mm

LBULB 1.4 mm LICA 1.3 mm

Atheromatous plaques at the carotid vascular US study

175