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Ht FH

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hudgins
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Ht FH

HI all – I have a 3 year old pt whose father died at 30 of an MI. The father was identified at age 25 with total 488, HDL 34.

My pt, the 3 year old child, has worsening LDL. from 294 (HDL 39 TC 345) in 2015 to LDL 361 HDL 55 TC 432 this year.

Curious, what, if anything, would push you to start medications earlier than age 8 years?  Best, Sarah
 
 
Sarah de Ferranti, MD MPH
Director, Preventive Cardiology Clinic, Boston Children's Hospital
300 Longwood Avenue Boston, MA 02115 tel: 617 355-0955  fax: 617 730-0600  page: 617 355-6363 #1165  sarah.deferranti@cardio.chboston.org

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hudgins
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Ht FH

My colleague (Bob Eckel) saw a 4 yo with strong family history and LDL in the 400 range. I believe he saw some physical manifestations as well (thick Achilles maybe), and started him on statin therapy.

Liz Yeung

hudgins
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Ht FH

Sarah
The last 2 Pediatric clinical trials with rosuvastatin and pitavastatin went down to 6 years of age with no safety issues. I think you would be in bounds at that age. You could start ezetimibe in the meantime. Personally if this was my patient I would consider a low dose of statin now.
Brian McCrindle

hudgins
hudgins's picture
Ht FH

Good afternoon, Sarah, hi to all!

1) Your patient looks as typical homozygous FH , has he xanthomas? DNA test would be usuful to determin type of LDL receptor mutation-
     negative , defective or compound heterozygous. This is needed to select treatment strategy and its components (+/- PSCK9-i);
     According to his untreated LDL level,  this boy  probaly  has homozygous defective FH (LDL level is not very high)  

2) If DNA test showed receptor defective, statins are the best choice. I would consider pravastatin 20-40 mg daily to start with,
      once prava has excellent safety profile (do not metabolized via CYP450 3A4, it is hydrolized directly in the liver). Rosuvastatin 20-40 mg
      is a second choice (high liver-selectivety, minimal distribution in peripheral tissues). Ezetemibe 10 mg as add on in 2-3 month to enhance
      LDL lowering effect.

3) To my experience , children tolerate high doses of statins better, than adults and , assuming very high CVD risk, intensive lipid-lowering strategy
     is a best life-saving approach for him as early as posible;

4) PCSK9 inhibitors (evalocumab and alirocumab) work well in patients with some residual LDL receptor activity and may
   add 20-30% LDL reduction on top of combi therapy with  statins+ezetemibe. However, in my patients, regression of xanthomas occure even on
   dual therapy statins and ezetemibe with > 50% LDL-C reduction after 1 year of treatment.

5) More clinical features would be useful: Untreated LDL level in mother, Lp(a), and lipids  and 1st and 2nd  degree relatives + ultrasound of carotids and heart to
     investigate if he has stenosis in aortic rout and valves. These findings will help to assess the severity of disease and to built up a good adherence/compliance of
     long-term lipid-lowering treatment.

6) I would also look at his blood pressure closely, these pts often have plaques in renal arteries and, subsequenly, secondary arterial hypertension.

7) I hope , beta-sitosterolaemia is exclused.. In case ,his  mother has a normal lipid profile...

All the best,

Professor Andrey V Susekov, MD, Ph D, D Sc.
Member of NLA.
Academy for Postgraduate Education
Faculty of clinical pharmacology and therapeutics
2-nd Botkinskiy lane, 7;office 313.Moscow. Russia.

 



by Dr. Radut.