Talk:Familial hypercholesterolemia

message: (in addition to LDL phoresis - there are other acceptable mechanisms to mitigate the LDL load on the human... plasma exchange is one missing)  "Heterozygous FH is normally treated with statins, bile acid sequestrants, or other lipid lowering agents that lower cholesterol levels. New cases are generally offered genetic counseling. Homozygous FH often does not respond to medical therapy and may require other treatments, including LDL apheresis or plasma exchange (removal of LDL in a method similar to dialysis) and occasionally liver transplantation.[1]"
Vegaproc (talk) 19:52, 6 July 2017 (UTC)
thread_title: Add plasma exchange into paragraph 4.

message: In reading other articles about this genetic disease on the web, i have noticed population studies that mention that FH is most common in certain racial/genetic groups, namely Finns & Icelanders, Ashkenazi Jews, Lebanese Christians, and some Afrikaans populations in South Africa. Might it be a good idea to mention such things here? I think so, but am not qualified to do so. Just sign me, "Another Ashkenazi Jew with an LDL of 200, chronic Achilles tendonitis, and a family history of Angina, CAD, and Myocardial Infarction." 64.142.90.32 (talk) 16:45, 15 December 2007 (UTC)
replies: text: A good source would be needed, but I agree that this needs to be brought up. JFW | T@lk 10:43, 3 February 2008 (UTC)

text: - molecular epidemiology. Can't see the paper from home (1998, need to order it from the library). JFW | T@lk 21:44, 3 February 2008 (UTC)
thread_title:  Menion of genetic groups most affected? 

message: discusses the use of statins in children with FH. JFW | T@lk 10:43, 3 February 2008 (UTC)
thread_title: Statins in children

message: - some more genes doing LDL, not quite the same as the LDL receptor though. JFW | T@lk 23:35, 12 February 2008 (UTC)
thread_title:  More genes 

message: Surely a 1986 publication is not going to be an example of work that led to them winning the Nobel Prize. Which is the most representative paper from their 1970s work? JFW | T@lk 20:12, 28 February 2008 (UTC)
thread_title:  Brown & Goldstein 

message: Useful JRSM article by Durrington:  JFW | T@lk 13:36, 19 March 2008 (UTC)
thread_title:  Children with FH (heterozygous) 

message: WHO 1998 http://whqlibdoc.who.int/hq/1998/WHO_hgn_fh_CONS_98.7.pdf JFW | T@lk 23:52, 2 April 2008 (UTC)
thread_title:  Diagnostic criteria 

message: This mutation is already in the page for LDL-R.82.10.78.130 (talk) 09:55, 6 May 2008 (UTC)
replies: text: The problem is, even the LDLR page doesn't provide a source. JFW | T@lk 10:49, 13 May 2008 (UTC)

text: Possible source: http://atvb.ahajournals.org/cgi/content/full/19/2/408 JFW | T@lk 09:47, 13 May 2008 (UTC)
thread_title:  Added class V mutation in LDL-R 

message: Two more things to do before going to GAC:
* Reviewing  - if it contains actual trial data on interventions (with good endpoint data) will include this in the article.
* Reviewing the WHO document for anything important we are not presently discussing.
Other comments invited. JFW | T@lk 14:21, 13 May 2008 (UTC)
thread_title:  Before going to GAC 

message: Hi, saw the request for a peer review on WT:MED. Very well done!  Good job explaining terms for laypeople.  A few comments:
*"leads to atherosclerosis, the underlying cause of cardiovascular disease." Should this be "of some cardiovascular diseases", "the underlying cause of cardiovascular disease resulting from this condition" or something?  There's many causes of cardiovascular disease.
** JFW: atherosclerosis is the underlying cause of all cardiovascular disease. JFW | T@lk 10:13, 14 May 2008 (UTC)
replies: text: Thanks for your review, Delldot. I will leave comments above (marked JFW) and try to implement most of your recommendations over the course of today. I am still reading the sources above, and may still do further expansion. Also many thanks to  for identifying some important recent papers and incorporating them. JFW | T@lk 10:13, 14 May 2008 (UTC)
replies: text: Great, thanks for the fixes and explanations, I'm fine with everything.  You might want to add a couple sentences to the screening section too if there's more available.  delldot talk 20:35, 14 May 2008 (UTC)
thread_title: PR

message: Figured I'd review this since I'd already read it and all.  It's very good and I was looking forward to passing it no problem, but ran into one minor, easily fixable hitch.  Here's the breakdown of my assessment.  
# Well written?: No major problems, very readable, especially for an article on a topic so complex and technical.
# Factually accurate?: Well referenced. Use of the few primary sources has been explained above, no major facts missing citations.
# Broad in coverage?: Appears to cover every major aspect of the condition, doesn't go into unnecessary detail.
# Neutral point of view?: No NPOV problems.
# Article stability? No stability problems.
# Images?: :Image:HMG-CoA reductase pathway.png looks like it needs a tweak of the copyright tag. Looks like just a matter of switching a template.  I'm not sure how big a deal this is, but I'm gonna hold this till it's fixed to be safe.  Sorry, I should have checked this when doing the review.  But it shouldn't be hard to fix.  
Excellent work! Sorry to hold this on such a minor thing.  Gimme a heads up when you're ready for me to re-review.  delldot talk 05:46, 15 May 2008 (UTC)
replies: text: Image rights updated. Sorry, was simply unaware that there was a problem. JFW | T@lk 09:09, 15 May 2008 (UTC)
replies: text: Great work, sorry to have held it up on such a minor thing.  I've passed it now.  Congratulations!  delldot talk 14:21, 15 May 2008 (UTC)
thread_title: GA review

message: Guess I missed a few on my first read through.
*Introduce the ApoB term on first use, or let on that it will be discussed later.
**  - it is already in the intro but I added ApoB there for clarity. JFW | T@lk 09:34, 15 May 2008 (UTC)
thread_title: A couple more suggestions

message: More data supporting the massive benefit enjoyed from statins in this disease population:  JFW | T@lk 23:12, 28 January 2009 (UTC)
thread_title:  Prognosis 

message: - Cochrane review suggests children benefit from statins but long-term effects unknown. JFW | T@lk 11:13, 22 August 2010 (UTC)
thread_title:  Children 

message: These terms should be combined into the text. Maybe a section on classification? --Doc James (talk · contribs · email) 02:52, 17 November 2010 (UTC)
thread_title: See also section

message: I finally managed to find Muller's first description, which is highly elegant in its setup. Wiley, the journal's publisher, has followed the fairly recent trend to make their historical content available online, and this paper even got a DOI. All linked now. JFW | T@lk 11:44, 17 November 2010 (UTC)
replies: text: WhoNamedIt has the term "Harbitz-Müller syndrome" for FH, but I suspect this is more a term for xanthomatosis and I have never seen it used for FH. I hope everyone agrees to leave this out of the article for the moment. JFW | T@lk 11:46, 17 November 2010 (UTC)
thread_title:  History 

message: I've noticed the fact that this article still has a lot of primary references. Oddly, there's been no recent major review of FH in the literature.
*  seems to be a consensus document on LDL apheresis
*  is a Cochrane review of dietary treatment in FH
*  statins in children (systematic review)
--JFW | T@lk 12:04, 17 November 2010 (UTC)
thread_title:  Reviews 

message: This discussion continues the drumbeat that FH must always lead to atherosclerosis and that idea is absolutely wrong. Individuals exist (I am one) with extreme lifetime total and LDL cholesterol that are completely free of calcified plaque by EBCT. My family history back four generations in the presumed FH sector is entirely long-lived. A complete discussion of FH needs to at least discuss plaque buildup models in light of the fact that non-trivial numbers of individuals with extreme levels (at age 69 my LDL alone is over 500 mg/dl). Even after 50 years of speculation, the mechanism for plaque development is unacceptably sketchy and very likely does not involve LDL levels anymore than tobacco-stained fingers cause lung cancer.
RockyBob (talk) 18:45, 22 June 2015 (UTC)
replies: text: Do you have any sources on which such an observation could be based? By this I mean sources that meet the standards outlined in WP:MEDRS. JFW | T@lk 19:59, 23 June 2015 (UTC)
thread_title:  Needs to Explain Plaque-free FH individuals 

message: The one in 500 occurrence of FH is widely accepted, yet this relatively frequent occurrence produces an unaddressed problem. If a genetic condition is as detrimental as is attributed to FH, evolutionary logic dictates that the FH allele or alleles would rapidly disappear from the gene pool. How can a life-shortening disorder that affects so many in their 30's and 40's (obviously reducing reproductive success compared to those living longer) flourish so that today it occurs in 14 million individuals? The usual response that average age was lower in the past is inadequate because for an average age to be even 30 means that many individuals were living well into the ages where this condition is supposed to have been detrimental. All that is necessary to eliminate an allele is a few percent less reproductive success. This would have been the case for many tens of thousands of years, yet the allele today is, by genetic disease standards, among the most, if not the most prevalent "disease".
````  — Preceding unsigned comment added by RockyBob (talk • contribs) 19:08, 22 June 2015 (UTC)
replies: text: An interesting question. It bears remembering that the premature atherosclerosis often seen in people with FH does often not affect them clinically until after childbearing. Do you have any sources (see WP:MEDRS) to work with? JFW | T@lk 19:59, 23 June 2015 (UTC)
thread_title:  Needs Genetic Explanation for 1/500 Occurrence 

message: From Circulation doi:10.1161/CIR.0000000000000297 JFW | T@lk 12:12, 2 December 2015 (UTC)
replies: text: There's also an integrated guideline that I missed: doi:10.1016/j.jacl.2014.01.002 JFW | T@lk 12:12, 2 December 2015 (UTC)
thread_title:  Agenda 

message: JAMA doi:10.1001/jama.2017.8543 JFW | T@lk 14:40, 26 July 2017 (UTC)
thread_title:  Screening 

message: Schematic representation of the LDL receptor protein (image) cannot be the full LDL-R, at best a part of it, and without further explanations quite useless.  — Preceding unsigned comment added by 82squaremetres (talk • contribs) 19:01, 10 August 2017 (UTC)
thread_title:  Schematic representation of the LDL receptor protein 

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thread_title:  External links modified 

message: Has updated the guideline: https://www.nice.org.uk/guidance/cg71 JFW | T@lk 15:02, 29 November 2017 (UTC)
thread_title:  NICE