Familial Hypercholesterolemia | Genetics, Pathophysiology, Symptoms and Treatment

[@Philyra86]

I am a hemo and because of all those criteria you have to conform with, it has taken centuries + 31 years of me living before i was the first ever to be diagnosed in my family with FH. Only because i had xanthalasmata around the eyes and my ldl was a bit higher than it's supposed to be. I believe this should be a standard dna test with way lesser criteria to prevent early deaths.

[@nnhk0056]

No hemo bro

[@catfishBG]

Wow , ezetimibe is not a PCSK9 inhibitor , please correct it .

[@mohammedfardan2940]

Ezetimibe is not the example of pcsk9 inhibitor, examples of pcsk9 are alirocumab, evolocumab

[@jjmedicine]

You're totally right! I'm not sure why I put that as an example! Ezetimibe is a cholesterol absorption inhibitor NOT a PCSK9 inhibitor. Thanks for the heads up - I'll be correcting this!

[@santoshkumartripathi9011]

@@jjmedicine ox. 85. X 8. 9

[@kninor1]

Very useful presentation. Explains everything in FH

[@DARKLYLIT]

I would recommend that you research and post a video regarding OXIDIZED LDL (almost exclusively caused by the over-consumption of carbohydrates) and its relationship to atherosclerosis. High LDL is not the problem. High LDL is NOT necessarily "Lethal". It's OXIDIZED LDL and particle size which determine greater risk for atherosclerosis. There are people who do NOT have FH, have an LDL of 100-150 and yet they unknowingly had heart disease and had a heart attack before they were 50 BECAUSE their LDL level of 100-150 mg/dL contained an enormous amount of SMALL, OXIDIZED LDL. Even more, there are people who have NO heart disease, have NO genetic mutation (NO FH) and have an LDL of 500 mg/dL or more, have a CAC score of ZERO and are perfectly healthy. One size does NOT fit all.

[@rafaeljara4867]

Gtfo, how could 500 LDL levels be normal??? Explain what could cause this without increasing cardiovascular risks

[@simplyraw1369]

​@@rafaeljara4867I truly have no knowledge on this But I would say it could be because of another gene in play that allows such a function. The many many differences in factors where in the slightest of change makes all the difference. We are truly unique and no one is exactly alike. Some are the exact opposite. Here is an example: After a surgery I was RX'd a pain reliever, the medication gave warning that this medication causes drowsiness. My mom said oh boy that is gonna knock you out! She said she only needed a 1/2 a dose when she had this RX'd after a surgery. Well guess what? It didn't make me a bit sleepy in fact it kept me awake like some sort of speed, I was ready to get up and go at it! I was up all night and couldn't sleep I wasn't a bit tired. Or how about the pain you feel when you drop a 20 pound weight on your bare toe? Some may drop to the floor in pain not me. It doesn't feel GOOD but it's not something to cry over it doesn't stop me from doing what I was doing. I have a higher tolerance level why? Idk It's my personal genes, maybe the owie gene doesn't feel it to tell my brain hey this hurts a LOT. Or maybe it's because the owie gene was lazy so the I will come to your rescue gene took over. Ya see what I'm trying to say? We are all made in different ways to where there are some where their body functions work in a manner that only appears to be dysfunctional. The reality where the wrong takes from the right enables the change. Idk makes sense in my mind 😊

[@1cleandude]

Great video thanks for your time and expertise!🙏

[@kimsordyl]

Super helpful, subscribed!. Thank you for sharing!

[@jjmedicine]

Thank you so much! I really appreciate your support - Glad you found the lesson helpful :)

[@aytakchichak7456]

very helpful also l like the american accent english..marvelous..thank you

[@russellrobins5320]

Isn’t it true that small dense ldl particles, aka damaged ldl, are what cause artery blockage? If a person is metabolically sound, without oxidized ldl, why does it matter if ldl is high? Healthy ldl being light and buoyant isn’t able to cause blockages because it doesn’t get under the endothelium. This is my understanding.

[@PrasantaDatta-f3g]

What is the cause of increased small dense LDL or oxidized LDL?

[@dinahmwangi7955]

Thanks for this video. Super helpful

[@paddleduck5328]

6:30 signs and symptoms

[@مسكالختاممحمد]

Thank you 💕💕💕

[@mrbigm76]

Hi I have Familial Hypercholesterolemia. I don't have the symptoms

[@anare244]

It’s called incomplete penetrance

[@darkmoon3646]

Thankyouuuuuu! I love your videos❤

[@travelbysign7351]

Very informative for people in layman's terminology. They don't need to study microbiology to gain an understanding of what is going on. Not everyone wants to become a microbiologist 😂

[@aimanmalik4411]

But very difficult to understand more simple lectures should be made for easy understanding

[@joannademee]

That's a nice video - Thanks

[@ghassanmohammed4556]

Thanx ...that was helpfull

[@stathaiyan5709]

Since it is an AD, should the blue figure (i.e. RR) in the picture at 1:09 represents homozygous?

[@UAL320]

Is it even possible to treat FH with diet and exercise changes? Or is it pointless?

[@ChristineGrohe]

Great question and why I am here watching youtube videos. To get an answer to this very question! Thank you for posting this and I hope someone will answer soon.

[@82krishnarajable]

Only tab

[@joezziee]

cheers bro

[@HeyYall398]

Awesome 👍

[@lifeonwheels5756]

I have this..pls tell me what I need to take..my number is 309..my dr put me on a statin but within days I could hardly walk from the pain. That was a yr ago , I’m not on any meds now but,, from everything I’m reading , I should be on a couple atleast..thanks.

[@TB-zn5dz]

If your hdl and ldl are both high, like say both 150, they kind of cancel each other out. But maybe prescribed 20mg atorvorstatin. If your LDL is way high >150 and hdl is low

[@threesisters5334]

My daughter has Familial hypercholesterolemia she takes a lot of Stacin medications for 5 years without improvement and the appearance of xanthoma in most of her body we hear about PCSK9 Inhibitors similar praluent and repatha but used for 13 or 18 years unfortunately, medicines available for this age are not effective for FH from both parents She She follows a diet with exercises, but the percentage is still high Is there an effective treatment for a 9-year-old?

[@yogayantra]

As a medical doctor, what do you have to say about the side effects of statin? Let me be clear: ALL my male friends who took that thought they were going to die. They stopped! And they will never take it again. I have quite a few documents, in french, about the "value" of statins!!!!

[@kninor1]

Explain IT to People WHO died without statins take...

[@yogayantra]

@@kninor1 this is an anti-reply

[@lifeonwheels5756]

I literally felt like I was dying on a statin. I could hardly walk, I can not physically tolerate statins but I have FH..I’m scared that I will die early and leave my daughter orphaned but I just don’t have a choice , I can’t take statins. What are my options? Do I have any?

[@yogayantra]

@@lifeonwheels5756 unicist homeopathy

[@TB-zn5dz]

@@lifeonwheels5756 I also have a young daughter, it is scary. Sending yall love tonight.

[@appajigowda6858]

nice

[@stewste4316]

Good video ;)

[@elishevajones6730]

This speaker is unfortunately uninformed.

[@python2.1]

Best video on FH seen so far 👌

[@JB4C89]

Thank you ❤