Familial Hypercholesterolemia

The article below is an article easier to read by a reporter

POLYGENIC VS MONOGENIC FAMILIAL HYPERCHOLESTEROLEMIA

The blog below is more difficult for lay people to read despite my efforts to edit the text's main points.

UpToDate quotes found here but there may be a fire wall.

Brian Scott Edwards Retweeted Gina Lundberg MD
FH definition has broadened. Need a short concise discussion of who has it, how to dx it, how to treat it.
Brian Scott Edwards added,



Gina Lundberg MD @gina_lundberg
Sept 24 is #FHAwarenessDay to #KnowFH #FindFH from @TheFHFoundation Please Tweet up with us!! @lipiddoc @PamelaBMorris @nationallipid @CaseyElkinsDNP @umdpharmd @DrDebCroyNP @braun_lynne …
1 reply0 retweets0 likes





















Brian 


‏ @brianedwardsmd 1h

FH definition has broadened. Need a short concise discussion of who has it, how to dx it, how to treat it.

1 hour ago

















1/ "Homozygotes generally manifest disease in childhood."

















Brian Scott Edwards‏ @brianedwardsmd 56m56 minutes ago

2/ "There are multiple definitions of FH in the literature.
Some require the performance of genetic testing while others require very high levels of LDL-C 
with or without other clinical characteristics."


Brian Scott Edwards‏ @brianedwardsmd 35m35 minutes ago

3/ "There are multiple definitions of FH in the literature.
Some require the performance of genetic testing while others require very high levels of LDL-C with or without other clinical characteristics. Other inherited lipid disorders are discussed separately."


 @brianedwardsmd

4/ UpToDate differentiates FH from Clinical Dyslipidemia.

I need @nationallipid to make a clear statement of the differences.




8:58 AM - 19 Sep 2018 from Florida, USA




Brian Scott Edwards‏ @brianedwardsmd

5/ "FH a genetic disease caused by mutation of ONE of genes critical 4 low LDL-C catabolism. The FH clinical syndrome or phenotype is defined by clinical criteria, & it is the severity of syndrome determines what Rx offered."
9:03 AM - 19 Sep 2018 from Florida, USA
1 reply0 retweets0 likes






1. New conversation
   
   
   
   
   
   
   Brian Scott Edwards‏ @brianedwardsmd 34m34 minutes ago
   
   6/ "American Heart Association criteria for the clinical diagnosis of FH:
   
   
   
   
   
   
   
   
   1-low density lipoprotein cholesterol (LDL-C) >190 mg/dL (>4.9 mmol/L)
   2-either a first degree relative with LDL-C >190 mg/dL or 
   3-with known premature coronary heart disease <55 men="" span="" style="font-size: 14px;" years=""><60 p="" women="" years="">

Brian Scott Edwards‏ @brianedwardsmd 22m22 minutes ago

7/ "FH identified w functional mutation of

ONE OF 3 GENES 4 LDL receptor: 

1- the low density lipoprotein (LDL) receptor

 2-gene (PCSK9) gene 

 3-the apolipoprotein B gene Mutations impairs LDLr-mediated CATABOLISM of LDL"

Brian Scott Edwards‏ @brianedwardsmd 24m24 minutes ago

8/ "Mutations in these three genes can be detected in about 80 percent of patients with the definite FH clinical syndrome (also called phenotype) and 20 to 30 percent of those with possible FH syndrome."

Brian Scott Edwards‏ @brianedwardsmd

9/ "Question arises:

What is cause of 20% definite FH and 70 to 80% of possible FH pts,

with  some of clinical features FH. 

Probably majority of definite  possible FH pts in whom no causative single gene mutations are severe forms of polygenic hypercholesterolaemia @DaveKeto

10/ This thread of quotes from "Familial hypercholesterolemia in adults: Overview Authors: Robert S Rosenson, MD Paul Durrington, MD Section Editor:Mason W Freeman, MD Deputy Editor:Gordon M Saperia, MD, FACC" http://www.uptodate.com/contents/familial-hypercholesterolemia-in-adults-overview?