Treating conditions, such as familial hypercholesterolemia, can be a rewarding task. Let me explain why. Familial hypercholesterolemia is the most common genetic disorder causing elevated blood LDL cholesterol level.
This exposure to high levels of cholesterol causes early damage to the vascular system of an individual which can lead to a premature stroke or heart attack. Many patients with this condition lose their lives to a disease that most of the time could be prevented or at least controlled.
This condition manifests itself in the early years of a person’s life. Most patients suffering from this disease present with vascular calcifications during childhood and adolescence.
However, according to the statistics, almost 90% of individuals suffering from familial hypercholesterolemia haven’t yet been diagnosed.
Diagnosing these individuals and providing them with appropriate treatment, can be rewarding to clinicians like myself, who treat patients with familial hypercholesterolemia.
This is the reason why I decided to initiate the Familial Hypercholesterolemia or FH initiative and help to educate people like you about this potentially deadly disease that unfortunately hasn’t received sufficient attention.
Here you can read all the important information about familial hypercholesterolemia and use the risk assessment tool to find out whether you or any of your family members might be having an undiagnosed case of familial hypercholesterolemia or FH.
What is Familial hypercholesterolemia?
This condition is the most common genetic disease affecting the lipid metabolism.
According to statistics, almost 20% of heart attacks under the age 40 are due to FH.
Sadly, in most cases, patients suffering from early heart attacks, were not screened or diagnosed with this condition prior to the episode.
The risk of having a heart attack is almost 100 times higher in younger individuals with untreated FH.
I would like you to read the previous sentence once more. You should pause, when you read 100 times higher risk for heart attack. This number should be a warning sign to all those who don’t like to check their blood cholesterol level and don’t like to take their medications on a regular basis, as instructed by their doctors.
The risk of having heart attack in women, is lower than in men. The vascular complications in women also often lag behind men by around 10 years.
Almost 50% of men and 30% of women with FH, suffer a heart attack before age 50 to 60 years of age.
FH is an autosomal dominant genetic disorder
Let me refresh your knowledge about genetics.
Autosomal dominant genetic disorder is one of the ways that a trait or an abnormality can be passed on to the next generation.
In this disorder, if you receive the genetic abnormality from one parent, you can get the disease.
Therefore, it’s important that the first-degree relatives of individuals diagnosed with FH, check their blood cholesterol level as soon as they can.
How common is familial hypercholesterolemia?
Recent studies suggest that the prevalence of this condition is higher than previously thought (1 in 250). Many experts believe that around 34 million people worldwide and approximately 620,000 in the United States suffer from this disease. There is one person born every minute who is suffering from this condition.
In French Canadians and Dutch Afrikaners, the prevalence of FH is 1 in 100. Here is a list of populations with a high prevalence of FH.
- French Canadians
- Dutch Afrikaners
- Christian Lebanese
- Ashkenazi Jews
- Asian Indians
Heterozygous FH occurs when the genetic abnormality is passed down from one parent. The total blood cholesterol level in these patients can range between 350-550 mg/dl.
In homozyous FH, the genetic defect is passed down from both parents. In these patients, the total blood cholesterol ranges from 650-1000 mg/dl. This form of FH isn’t common. It occurs approximately in 1 out of every 1,000,000 individuals.
When to suspect familial hypercholesterolemia
We should suspect possible familial hypercholesterolemia in patients who are older than 20 years and have a blood LDL cholesterol level more than 190 mg/dl.
In patients younger than 20 years, a blood LDL-cholesterol level higher than 160 mg/dl could suggest possible FH.
In this population with elevated blood cholesterol levels, a detailed family history can be of tremendous help in establishing the diagnosis.
Having a family history of early heart disease (in men younger than 55 and women younger than 65 years) in addition to an elevated blood cholesterol level a positive family history for this condition can make the diagnosis of FH more plausible.
Most people suffering from this condition don’t present with typical physical findings attributed to FH. The following is a list of most prominent findings in a patient with clear diagnosis of FH.
- Fatty deposits on the achilles tendons, back of the hands, elbows and kneecaps.
- Yellowish, greyish arc around the peripheral cornea of the eyes (Arcus corneae) in patients under age 45.
Most older individuals have a yellowish and grayish arc around their peripheral cornea called Arcus senilis. It shouldn’t be confused with a similar looking arc in younger patients with FH.
It’s also important to know that the absence of these physical findings doesn’t rule out FH.
FH genetic mutations
LDL Apolipoprotein B (Apo B) and proprotein convertase subtilisin/ kexin type 9 (PCSK9) genetic mutations have been associated with FH. The genetic mutation of LDL receptors is the most common documented abnormality.
Genetic testing is usually not required to establish the diagnosis of familial hypercholesterolemia. This test might be beneficial in cases with an uncertain diagnosis.
An important fact is that negative genetic testing doesn’t rule out FH, because many genetic causes of this condition remain unknown.
When to start screening
Most experts recommend a universal screening for elevated blood cholesterol level, starting at age two in children with a family history of high blood cholesterol level or early heart disease and stroke.
All children between 9 to 11, should have a universal screening with a fasting lipid profile.
Children and familial hypercholesterolemia
Major studies such as the Bogalusa Heart Study or the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) study show that the process of hardening of vessels starts in childhood.
The results of the above studies suggested that elevated blood cholesterol in children and adolescence, relate to the development of fatty streaks and cholesterol build-up in the vessels.
Pregnancy and familial hypercholesterolemia
Women on statins, or any other cholesterol lowering medications, should stop these medications, as soon as they plan to get pregnant. Women who are on cholesterol lowering medications and face an unintended pregnancy should stop the medications and contact their treating physicians.
Which treatment options are available during the pregnancy
Patients who are pregnant and suffer from an uncontrolled blood cholesterol level have several options. They could benefit from oral colesevelam and, in severe cases, your doctor might suggest LDL-apheresis.
The following cholesterol lowering medications shown to be harmful during pregnancy and nursing. No pregnant women should take them during this period.
The fact is that this condition is a treatable disease and the risk of early heart disease is elevated about 20 times in all untreated individuals. Unfortunately, only 10% of patients with this condition receive the appropriate treatment. This number is very low and must improve.
Dietary changes, in addition to potent medications, such as statins and LDL apheresis (this method uses a filtering machine to remove the LDL cholesterol from the patient’s blood).
Several statins are available in the market. This class of medications has shown to be very effective in lowering blood cholesterol and consequently the risk for heart attack and stroke.
Millions of people around the world are on this class of medications. How about you?
Statins inhibit an enzyme called HMG–CoA reductase inhibitors and thereby lower the cholesterol production.
Statins such as simvastatin, pravastatin, atorvastatin (lipitor), rosuvastatin (crestor) should usually be the first line treatment.
PCSK 9 inhibitors
This class of medications is one of the most promising therapies for elevated blood cholesterol, in addition to the already established statin family. PCSK 9 inhibitors are monoclonal antibodies that inactivate a protein found in the liver (proprotein convertase subtilisin kexin 9 or PCSK 9).
You can find the protein PCSK 9, mainly in the liver. However, the intestines and kidneys are two other production sites for this protein.
In several studies, PCSK 9 inhibitors, with or without statins, could significantly reduce blood cholesterol levels.
If you already like this class of medications, you should know that these products are more expensive than other available statins. Therefore, only a limited number of patients qualify for this treatment.
It usually includes individuals who are intolerant to statins and have a higher risk for heart and vascular events. The other current drawback of this treatment is that the available PCSK 9 inhibitors can’t be taken orally and must be injected. This is something that many people might not like it.
The FDA to date has only approved the following two PCSK 9 inhibitors.
420 mg once a month or 140 mg every two weeks (This medication doesn’t require titration)
75 mg once every two week
Dietary changes that could lower blood cholesterol
Several dietary changes shown to reduce the blood cholesterol level. Here is a list of these modifications:
- Reduce saturated fatty acid intake to less than 7% of total energy intake.
- Soluble fiber intake could reduce the cholesterol absorption. You should add about 10-20 grams of soluble fiber to your diet. I’ve explained the difference between soluble and insoluble fiber in the following article: 3 Ways that Dietary Fiber Can Make You Healthier
- Alcohol and smoking could also interfere with the blood cholesterol metabolism. I don’t have to repeat the obvious that smoking is harmful to the entire body and not limited to cholesterol.
Patients who have a diagnosis of familial hypercholesterolemia and aren’t able to lower their blood cholesterol with common available treatments might consider LDL-apheresis.
The FDA has approved this method and it has limited its use to high risk patients with very high blood cholesterol levels.
LDL apheresis can lower the blood cholesterol by almost 70% after a single treatment. To maintain a good blood cholesterol level, individuals require a biweekly treatment schedule.
Do you know the most common side effect of LDL-apheresis?
Low blood pressure, especially in patients who take ACE inhibitors (e.g. lisinopril), is the most common side effect of this non-surgical procedure.
Sometimes, your lipidologist might ask you to lower or hold the blood pressure medication on the day of the procedure.
Ileal bypass and liver transplant
In rare cases, if the individual can’t tolerate the less invasive treatments, then surgical procedures, such as an ileal bypass and liver transplantation shown to be beneficial. However, with availability of potent cholesterol lowering medications, the surgical procedures are uncommon.
More about familial hypercholesterolemia
Dr Carl Mueller described familial hypercholesterolemia (FH) in the late 1930s. We have since seen a great deal of progress in the fields of FH diagnosis and treatment. However, despite easier access to diagnosis and treatment of this condition, the majority of people who have this condition, are still undiagnosed or poorly treated.
The rate of patients suffering from FH is much larger than we previously believed. Almost 1 in 250 people has this condition.
The great news is that early diagnosis of FH could save lives and limit the damage to the vessels, thereby reducing the number of unnecessary strokes or heart attacks.
I have initiated the Familial Hypercholesterolemia Initiative with the purpose of educating individuals and increasing the awareness about this disease in the United States and worldwide.
In order to do this, I need your help. Please share this article with your friends and family members.
Please also mention this educational article on your website. I’m hoping that these actions will help to make more people are aware of this controllable disease.
Please let me know if you affected by familial hypercholesterolemia. Go to Contact page and send me your story and how you’re dealing with this disease.
Here is the link to FH questionnaire that could help you to find out whether you or any of your family members are suffering from FH.