Treatment of children with homozygous familial hypercholesterolemia: Safety and efficacy of low-density lipoprotein apheresis

Uauy, Ricardo; Zwiener, Robert J.; Phillips, Mary Jeanne Perino; Petruska, Mary; Bilheimer, David W.

doi:10.1016/s0022-3476(05)81956-0

Cited by 29 publications

(14 citation statements)

References 23 publications

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“…The youngest child treated by LDL apheresis was 3.5 years old (8), as in our series. The most frequently used method was adsorption by DSC (4,5,8–11), but other procedures were also used: heparin‐induced lipoprotein precipitation (HELP) (7), immunoadsorption (12), direct adsorption by DALI (13), and even non‐specific methods such as plasma exchange (6). Although weekly sessions are more efficient (10), fortnightly sessions were often performed.…”

Section: Discussionmentioning

confidence: 99%

Low‐density Lipoprotein Apheresis in Children With Familial Hypercholesterolemia: Follow‐up to 21 Years

Palcoux¹,

Atassi-Dumont

Lefevre³

et al. 2008

Ther Apher Dial

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Twenty-seven patients (14 girls, 13 boys) affected by familial hypercholesterolemia who had begun low-density lipoprotein (LDL) apheresis treatment before the age of 15 were studied. The median age at diagnosis was 4 years and the blood LDL cholesterol level was 704 +/- 163 mg/dL. Screening was performed for homozygous or double heterozygous mutations of the LDL cholesterol receptor gene and mutations were found in 24 of the patients. The mean age at the beginning of treatment was 8.5 years and the mean length of follow up was 12.6 years. The two main procedures used were direct adsorption of lipoproteins and dextran sulfate cellulose adsorption. Nine patients experienced anaphylactic reactions due to bradykinin and six had to have their treatment changed. The LDL cholesterol level before the session was lowered by 45 +/- 11% of the value at diagnosis. The LDL cholesterol reduction in a session was 72 +/- 10%. Tendinous xanthomas disappeared or diminished dramatically in 62% of the children. In 22 patients no cardiovascular event occurred during LDL apheresis treatment. Three had angina pectoris; two others had surgical management of aortic stenosis, but no clinical manifestations. Seven children had normal cardiovascular pictures while on treatment. Eleven had abnormalities of the aortic root or coronary arteries, which in six cases had appeared before treatment; the other five children did not undergo prior cardiac evaluation. In five children the abnormalities appeared during treatment. Based on these data, LDL-apheresis can be recommended for the treatment of homozygous familial hypercholesterolemia, even in young children, with good efficiency on biological parameters, cutaneous lesions and cardiovascular events.

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Section: Discussionmentioning

confidence: 99%

Low‐density Lipoprotein Apheresis in Children With Familial Hypercholesterolemia: Follow‐up to 21 Years

Palcoux¹,

Atassi-Dumont

Lefevre³

et al. 2008

Ther Apher Dial

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“…Performing lipoprotein apheresis in children is technically challenging but can be a lifesaving procedure 128 in patients with hoFH and undetectable LDL receptor activity. 129,130 Initiation of apheresis has been reported at ages as early as 2 128 and 3 years. 131 …”

Section: Treatmentmentioning

confidence: 99%

My Approach to the Patient With Familial Hypercholesterolemia

Safarova

Kullo

2016

Mayo Clinic Proceedings

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Familial hypercholesterolemia (FH), a relatively common Mendelian genetic disorder, is associated with a dramatically increased lifetime risk of premature atherosclerotic cardiovascular disease due to elevated plasma low-density lipoprotein cholesterol (LDL-C) levels. The diagnosis of FH is based on clinical presentation or genetic testing. Early identification of patients with FH is of great public health importance because preventive strategies can lower the absolute lifetime cardiovascular risk and screening can detect affected relatives. However, low awareness, detection, and control of FH pose hurdles in the prevention of FH-related cardiovascular events. Of the estimated 0.65 million to 1 million patients with FH in the United States, less than 10% carry a diagnosis of FH. Based on registry data, a substantial proportion of patients with FH are receiving no or inadequate lipid-lowering therapy. Statins remain the mainstay of treatment for patients with FH. Lipoprotein apheresis and newly approved lipid-lowering drugs are valuable adjuncts to statin therapy, particularly when the LDL-C–lowering response is suboptimal. Monoclonal antibodies targeting proprotein convertase subtilisin/kexin type 9 provide an additional approximately 60% lowering of LDL-C levels and are approved for use in patients with FH. For homozygous FH, 2 new drugs that work independent of the LDL receptor pathway are available: an apolipoprotein B antisense oligonucleotide (mipomersen) and a microsomal triglyceride transfer protein inhibitor (lomitapide). This review attempts to critically examine the available data to provide a summary of the current evidence for managing patients with FH, including screening, diagnosis, treatment, and surveillance.

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“…These xanthomas may be a warning of a lifethreatening disorder to the patient. Death from premature myocardial infarction may occur before 20 years of age (Uauy et al, 1992). Our patient developed skin lesions at the age of 4 years, triggering at the age of 5 years and finger contractures 6 months later.…”

Section: Discussionmentioning

confidence: 70%

Carpal Tunnel Syndrome and Flexion Contracture of the Digits in a Child with Familial Hypercholesterolaemia

Yensel

Karalezli

2006

Journal of Hand Surgery

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Treatment of children with homozygous familial hypercholesterolemia: Safety and efficacy of low-density lipoprotein apheresis

Cited by 29 publications

References 23 publications

Low‐density Lipoprotein Apheresis in Children With Familial Hypercholesterolemia: Follow‐up to 21 Years

Low‐density Lipoprotein Apheresis in Children With Familial Hypercholesterolemia: Follow‐up to 21 Years

My Approach to the Patient With Familial Hypercholesterolemia

Carpal Tunnel Syndrome and Flexion Contracture of the Digits in a Child with Familial Hypercholesterolaemia

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