Here I discuss the genetic condition known as Familial Hypercholesterolemia (FH) which literally means "Inherited High Cholesterol." It seems that the diagnosis is sometimes handed out rather casually and it is useful for you to understand how it is really diagnosed so you may understand what you're dealing with if you get told you have FH.

Information about FH on the internet is overwhelming. Here are articles and links for things I specifically mentioned.

Cleveland Clinic Article:
https://my.clevelandclinic.org/health...

VeryWellHealth.com Article:
https://www.verywellhealth.com/pureh...

Mayo Clinic Overview of FH
https://www.mayoclinic.org/department...

A CDC reference seeming to equate Familial Hypercholesterolemia with Pure Hypercholesterolemia (or not)
https://www.cdc.gov/sixeighteen/resou...

Billing Codes:
https://www.icd10data.com/ICD10CM/Cod...

Article estimating FH frequency as between 1 in 300 and 1 in 500:
https://www.ncbi.nlm.nih.gov/pmc/arti...

Several sources indicate a rate of 1 in 220. I think these probably all trace to the same research, for example:
https://www.jacc.org/doi/10.1016/j.ja...

Definition of common, uncommon adverse effects, etc:
https://ibase.info/qa/812

9 Things You Need to Know About Inherited High Cholesterol
https://www.everydayhealth.com/highc...

Mayo clinic reference about medications needed for FH:
https://www.mayoclinic.org/diseasesc...

Paper including treatments given in video:
https://www.ncbi.nlm.nih.gov/pmc/arti...

MEDPED Calculator:
https://www.mdcalc.com/calc/3820/usm...

SimonBroome Calculator:
https://www.mdcalc.com/calc/3817/simo...

Dutch Diagnostic Criteria Calculator:
https://www.mdcalc.com/calc/3818/dutc...

National Lipid Association Guidance:
https://www.lipid.org/sites/default/f...


DISCLAIMER: The following presentation and all presentations in this series are for informational purposes only and should not be used to diagnose or treat any medical condition. Please consult with your personal physician when deciding whether to treat or not treat any condition with pharmaceuticals or by any other treatment or therapy. In particular, never change dosage, stop taking medications, or change a therapy because of something presented in this series without discussing your options with your primary care physician or other health professional.

The author is not a medical professional and is presenting his own story, research, and opinions as they apply to himself, and himself alone.

If you think you may be experiencing a medical emergency, immediately call your doctor or dial 911.