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What Causes Familial Hypercholesterolemia?
Question: suspected familial hypercholesterolemia. Blood results show that my ( 55 yr. female) cholesterol blocking system is broken. I am slim, eat well and exercise daily. I have high cholesterol. My son who is 17 has the same numbers and is a slim active boy. Our numbers are under 300, but widespread. I am super sensitive to statins.... am I right to suspect FH? how dangerous is it for both of us?
Brief Answer:
I can't tell. Need more data
Detailed Answer:
Hello,
it would be helpful if you'd provided the numbers. Total cholesterol, high density cholesterol (HDL), low density cholesterol (LDL), triglycerides are the basic tests. Do you have a family history of heart or vascular disease? Do you have any external sighs of hypercholesterolemia like xanthomata or corneal arc? If your total cholesterol is under 300 and widespread then familial hypercholesterolemia is less likely. I can't exclude it but usually such patients have a very very high LDL (>250mg/dL) in heterozygous form. In homozygous form the numbers are sky high!
What was the problem with the statin?
I'll be waiting for your input.
Kind Regards!
I can't tell. Need more data
Detailed Answer:
Hello,
it would be helpful if you'd provided the numbers. Total cholesterol, high density cholesterol (HDL), low density cholesterol (LDL), triglycerides are the basic tests. Do you have a family history of heart or vascular disease? Do you have any external sighs of hypercholesterolemia like xanthomata or corneal arc? If your total cholesterol is under 300 and widespread then familial hypercholesterolemia is less likely. I can't exclude it but usually such patients have a very very high LDL (>250mg/dL) in heterozygous form. In homozygous form the numbers are sky high!
What was the problem with the statin?
I'll be waiting for your input.
Kind Regards!
Above answer was peer-reviewed by :
Dr. Yogesh D
I do not know my family history unfortunately.
No external signs on either one of us.
my DL: 247
sons: 214
my HDL: 78
sons: 52
my LDL: 161
sons: 158
my Trigs: 65
sons: 109
my Lpa (mass): 69
sons: 84
my Lpa (p): 264
sons: 252
Sterol Absorption Markers are all in he Hyper range for both of us. (double the highest number for the range, in hyper)
Sterol Synthesis Markers are all in the Hyper range for both of us. (double the highest number in the range, in the hyper catagory)
I have muscle pain and weakness while on the Statins, even at 5mg. 2 x week.
No external signs on either one of us.
my DL: 247
sons: 214
my HDL: 78
sons: 52
my LDL: 161
sons: 158
my Trigs: 65
sons: 109
my Lpa (mass): 69
sons: 84
my Lpa (p): 264
sons: 252
Sterol Absorption Markers are all in he Hyper range for both of us. (double the highest number for the range, in hyper)
Sterol Synthesis Markers are all in the Hyper range for both of us. (double the highest number in the range, in the hyper catagory)
I have muscle pain and weakness while on the Statins, even at 5mg. 2 x week.
Brief Answer:
Still can't be 100% certain...
Detailed Answer:
Hello,
I've read the results. Your values are not that high to diagnose familial hypercholesterolemia without any doubt. The same applies to your son. A positive family history or a serious event like a coronary artery syndrome would have been decisive. Without it, my opinion is that you don't have FH.
Of course there -always- is an element of genetic predisposition to high cholesterol levels but I can't tell for sure whether this is FH or not. Cholesterol levels are more affected by inheritance than by the environment (including diet).
About the statin: when a statin is not tolerated, another statin can be tried. If you haven't tried fluvastatin or pravastatin then I believe you should. They are less likely to cause such symptoms and sometimes patients do well regarding side-effects. You should begin with the lowest dose.
Statins are the most potent drug for cholesterol levels elevation. If statins cannot be used and treatment is required then ezetimibe can be used. It's not as potent as a statin and is commonly used as an adjunct to statin therapy but it can be used on its own in cases like yours.
Please also note that most women without inheritable lipid conditions, do not benefit from cholesterol lowering therapy unless other factors co-exist (diabetes, arterial hypertension etc). The same applies for your son, since he's very young and his cardiovascular risk cannot be high.
I hope I've helped!
If you'd require more information, please use your follow-up questions.
I'll be glad to answer!
Kind Regards!
Still can't be 100% certain...
Detailed Answer:
Hello,
I've read the results. Your values are not that high to diagnose familial hypercholesterolemia without any doubt. The same applies to your son. A positive family history or a serious event like a coronary artery syndrome would have been decisive. Without it, my opinion is that you don't have FH.
Of course there -always- is an element of genetic predisposition to high cholesterol levels but I can't tell for sure whether this is FH or not. Cholesterol levels are more affected by inheritance than by the environment (including diet).
About the statin: when a statin is not tolerated, another statin can be tried. If you haven't tried fluvastatin or pravastatin then I believe you should. They are less likely to cause such symptoms and sometimes patients do well regarding side-effects. You should begin with the lowest dose.
Statins are the most potent drug for cholesterol levels elevation. If statins cannot be used and treatment is required then ezetimibe can be used. It's not as potent as a statin and is commonly used as an adjunct to statin therapy but it can be used on its own in cases like yours.
Please also note that most women without inheritable lipid conditions, do not benefit from cholesterol lowering therapy unless other factors co-exist (diabetes, arterial hypertension etc). The same applies for your son, since he's very young and his cardiovascular risk cannot be high.
I hope I've helped!
If you'd require more information, please use your follow-up questions.
I'll be glad to answer!
Kind Regards!
Above answer was peer-reviewed by :
Dr. Yogesh D
can you please re-phrase your comment about women WITHOUT inheritable lipid conditions not benefiting from cholesterol lowering drugs? Im sorry, I don't understand the point of that paragraph.
Another question I have is, is a inherited cholesterol elevation problem a gene defect?
Also, is it normal for our cholesterol blockers to NOT work with an inherited disorder?
What part of the condition defines "Familial Cholesterolemia?" The detected gene defect? The very high Cholesterol numbers? The inability to block cholesterol?
We both definitely have other issues.... however, we do not have high blood pressure.
Another question I have is, is a inherited cholesterol elevation problem a gene defect?
Also, is it normal for our cholesterol blockers to NOT work with an inherited disorder?
What part of the condition defines "Familial Cholesterolemia?" The detected gene defect? The very high Cholesterol numbers? The inability to block cholesterol?
We both definitely have other issues.... however, we do not have high blood pressure.
Brief Answer:
It's a gene defect, that impairs receptor function
Detailed Answer:
Hello,
regarding your first question: the point of the comment is that the higher the LDL levels and the more the other factors that influence cardiovascular morbidity, the higher the risk for complications. Your data are not that bad taking into account your age, hdl, total cholesterol. Most patients with familial conditions require treatment but they generally have much higher LDLs. If you receive treatment you should aim for an LDL<100mg/dL which should be fairly easy to achieve with a statin, but not so easy with other drugs.
Regarding your 2nd question: I believe I've answered that although indirectly. Our cholesterol levels are determined genetically for the most part. Besides lipid lowering drugs there not many (effective) things one can do. Weight reduction and diet are recommended but statins are still the best measure against cardiovascular disease.
Defective genes may interfere with the receptor function and other functions as well. These defects result in high LDL levels.
FH is a gene defect that involves the LDL receptor. Actually LDL receptor mutations are hundrends (over 1500) and there are also polygenic (multiple genes affected) conditions that impair lipid regulation. Genetic testing is the only definite way to know if this conditions exists or not.
Clinically this condition is defined by very high LDL cholesterol levels without triglycerides or low-HDL and a positive family history of early cardiovascular disease or clinical signs like the xanthomata that I've already mentioned.
I'm sorry for the delayed answer but we're in a different time zone...
I hope I've made things more clear now!
Kind Regards!
It's a gene defect, that impairs receptor function
Detailed Answer:
Hello,
regarding your first question: the point of the comment is that the higher the LDL levels and the more the other factors that influence cardiovascular morbidity, the higher the risk for complications. Your data are not that bad taking into account your age, hdl, total cholesterol. Most patients with familial conditions require treatment but they generally have much higher LDLs. If you receive treatment you should aim for an LDL<100mg/dL which should be fairly easy to achieve with a statin, but not so easy with other drugs.
Regarding your 2nd question: I believe I've answered that although indirectly. Our cholesterol levels are determined genetically for the most part. Besides lipid lowering drugs there not many (effective) things one can do. Weight reduction and diet are recommended but statins are still the best measure against cardiovascular disease.
Defective genes may interfere with the receptor function and other functions as well. These defects result in high LDL levels.
FH is a gene defect that involves the LDL receptor. Actually LDL receptor mutations are hundrends (over 1500) and there are also polygenic (multiple genes affected) conditions that impair lipid regulation. Genetic testing is the only definite way to know if this conditions exists or not.
Clinically this condition is defined by very high LDL cholesterol levels without triglycerides or low-HDL and a positive family history of early cardiovascular disease or clinical signs like the xanthomata that I've already mentioned.
I'm sorry for the delayed answer but we're in a different time zone...
I hope I've made things more clear now!
Kind Regards!
Above answer was peer-reviewed by :
Dr. Vaishalee Punj
Thank you very much. You have explained the possible conditions very well.
I am waiting for my blood results to test for auto-immune disease.
Along with the cholesterolemia, I also have gerd, muscle pain and some joint pain. However, my spine is affected as well. I have 3 bulging lumbar disks, Thorasic pain, like T4 - T9, and cervical pain as well. My md has scheduled xrays. Not sure why no MRI.
My son has all this, PLUS more sensitivities that affect additional systems, like his skin (he has developed a sensitivity to chemicals and his skin breaks out or/and his upper respritory system is affected.
My son has more body pain and more fatigue and brain fog.
He is currently in his second year of college, so he is pushing through, but it is hard.
Do you think our problems are related to each other?
Of course, you cant know anything for certain since you do not know us and can examine us.
I am waiting for my blood results to test for auto-immune disease.
Along with the cholesterolemia, I also have gerd, muscle pain and some joint pain. However, my spine is affected as well. I have 3 bulging lumbar disks, Thorasic pain, like T4 - T9, and cervical pain as well. My md has scheduled xrays. Not sure why no MRI.
My son has all this, PLUS more sensitivities that affect additional systems, like his skin (he has developed a sensitivity to chemicals and his skin breaks out or/and his upper respritory system is affected.
My son has more body pain and more fatigue and brain fog.
He is currently in his second year of college, so he is pushing through, but it is hard.
Do you think our problems are related to each other?
Of course, you cant know anything for certain since you do not know us and can examine us.
Brief Answer:
I don't believe they are related...
Detailed Answer:
Hello again,
I can't find any connection between your problems. Joint pain and Achilles tendinitis may happen in FH but as I told you before, I don't believe you have FH.
Usually the first step when evaluating back pain is a plain x-ray. MRI is the next step. The x-ray is a first test to check for potential bone problems and the MRI is a more detailed test which is additionally able to designate pressure on the spinal nerve roots or pressure on the spinal cord.
Skin and respiratory problems can sometimes be due to a rare condition called "Churg-Strauss". It may present with recurrent attacks of "sinusitis" or "asthma". Kidney problems, nervous system problems, vascular problems may ensue during its course. I'm sure it's not the case of your son though, since the description does not fit right and he's too young for it.
So as I wrote before, I believe that these problems are separate from each other.
I hope I've helped you understand the nature of your problems better.
If you want to ask more, I'll be glad to answer!
Otherwise please don't forget to rate my answers.
Best wishes!
I don't believe they are related...
Detailed Answer:
Hello again,
I can't find any connection between your problems. Joint pain and Achilles tendinitis may happen in FH but as I told you before, I don't believe you have FH.
Usually the first step when evaluating back pain is a plain x-ray. MRI is the next step. The x-ray is a first test to check for potential bone problems and the MRI is a more detailed test which is additionally able to designate pressure on the spinal nerve roots or pressure on the spinal cord.
Skin and respiratory problems can sometimes be due to a rare condition called "Churg-Strauss". It may present with recurrent attacks of "sinusitis" or "asthma". Kidney problems, nervous system problems, vascular problems may ensue during its course. I'm sure it's not the case of your son though, since the description does not fit right and he's too young for it.
So as I wrote before, I believe that these problems are separate from each other.
I hope I've helped you understand the nature of your problems better.
If you want to ask more, I'll be glad to answer!
Otherwise please don't forget to rate my answers.
Best wishes!
Above answer was peer-reviewed by :
Dr. Vinay Bhardwaj
Thank you.
I'll take FH off the table.
Is a high sed rate necessary for auto-immune disorders?
I don't feel like I have a lot of inflammation. I don't have "flare-ups" in other words.
I'll take FH off the table.
Is a high sed rate necessary for auto-immune disorders?
I don't feel like I have a lot of inflammation. I don't have "flare-ups" in other words.
Brief Answer:
High sed rate is not necessary
Detailed Answer:
Hello,
an elevated erythrocyte sedimentation rate is not always present. The ESR usually follows disease activity. The spinal disc problems you've mentioned have no relation to autoimmune diseases. Joint problems may have such a relation though.
If you'd like to ask more on this subject, please include some information about your condition. What kind of autoimmune disease is suspected and on what basis? I mean, did you have symptoms? What were they? Which joints were affected? Please include the timing of the symptoms (early morning, lasting for how long, worse after rest, worse after activity, etc).
Contact me if you need more answers!
Best Regards!
High sed rate is not necessary
Detailed Answer:
Hello,
an elevated erythrocyte sedimentation rate is not always present. The ESR usually follows disease activity. The spinal disc problems you've mentioned have no relation to autoimmune diseases. Joint problems may have such a relation though.
If you'd like to ask more on this subject, please include some information about your condition. What kind of autoimmune disease is suspected and on what basis? I mean, did you have symptoms? What were they? Which joints were affected? Please include the timing of the symptoms (early morning, lasting for how long, worse after rest, worse after activity, etc).
Contact me if you need more answers!
Best Regards!
Note: For further queries related to coronary artery disease and prevention, click here.
Above answer was peer-reviewed by :
Dr. Raju A.T
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