Hereditary Diseases and Disorders You Might Not Know About

When someone mentions hereditary diseases, our first associations are usually severe genetic diseases like cancer that are passed down from generation to generation. However, did you know that many of the diseases and disorders we encounter daily — and some of us struggle with — can also be hereditary? At least partially, that is.

But what conditions are we talking about exactly? IntroLab Laboratory in Belgrade, led by our geneticist Dr. Jelena Veličković, is here to provide you with detailed information about these conditions and help you:

  • Understand why they occur,
  • And how they manifest.

We are also here to answer any questions you might have about the diseases and disorders that we inherit.

What are hereditary diseases and why do they occur?

Hereditary diseases are illnesses passed from parents to offspring through genes. Each person has about 20,000-25,000 genes inherited from their parents.

As humans, we cannot control which genes we inherit. However, these genes significantly influence us, determining everything from our eye color to, unfortunately, our predisposition to certain diseases.

But what causes hereditary diseases to occur? The answer lies in changes or mutations in genes. These mutations can be present from birth or develop during a person’s life due to various factors such as exposure to radiation, chemicals, or viruses.

It’s also important to note that hereditary diseases are not always the result of a mutation in a single gene. Sometimes, they arise due to a combination of mutations in different genes along with environmental factors. This is the case with the lesser-known hereditary diseases and disorders we are discussing today.

Examples of Lesser-Known Hereditary Diseases and Disorders

1. High Cholesterol

High cholesterol is more often a result of poor lifestyle choices than hereditary factors. However, in certain cases, genes can be the cause. This is the reality for people who suffer from a condition called familial hypercholesterolemia.

This hereditary disease manifests as dangerously high levels of bad cholesterol (LDL) from birth. Unfortunately, affected individuals have a 3 to 13 times higher risk of developing atherosclerosis, which can often lead to heart attacks or strokes. Genetic analyses combined with tests that measure total cholesterol and LDL cholesterol help diagnose the condition.

A geneticist studies hereditary diseases and the gene mutations that cause them.
Familial hypercholesterolemia is diagnosed through blood tests that measure cholesterol levels.

Although familial hypercholesterolemia is often the cause of cardiovascular problems in youth and later life, early diagnosis and treatment can reduce the risk of disease by up to 80%! However, what is particularly disheartening is that this condition is rarely diagnosed. Moreover, more than 90% of those affected are unaware of their condition.

Due to this alarming statistic and the fact that the worst outcomes can be avoided with timely intervention, it is crucial to regularly check blood cholesterol levels.

2. Asthma

Similar to high cholesterol, asthma – a chronic disorder that causes inflammation of the airways and difficulty breathing – is often caused by factors such as air pollution or allergens. However, genes can also play a significant role in its development.

Asthma develops as an immune system response to substances that are actually harmless. Some genes can negatively affect the immune system, making individuals more prone to allergic reactions or inflammation, and thus to asthma.

3. Depression

Although not a physical illness, but a mental one, depression is a medical condition that can be genetically predisposed. In fact, scientists have found that this is true in up to 30-40% of depression cases. The serotonin transporter gene, 5-HTTLPR, is often mentioned as a culprit.

This gene helps regulate how our bodies control serotonin, a hormone that affects our mood. People with certain mutations in this gene may be more prone to depressive episodes, especially if they have experienced difficult periods in their lives.

A depressed girl sits on a chair and looks out the window.
Depression can be inherited in up to two-thirds of all cases.

4. Thrombophilia

Thrombophilia is not a disease, but rather an increased risk of abnormal blood clotting which can be either acquired or inherited. Inherited thrombophilias occur as a result of the presence of specific thrombophilic factors, or gene mutations. The most common mutation is factor V, known as known as factor V Leiden mutation.

However, the causes of inherited thrombophilias can also include:

  • Factor II mutation
  • Mutations in the MTHFR, MTR, and MTRR genes which are important for folate metabolism
  • 4G/5G mutation in the PAI-1 gene
  • Genetically conditioned deficiency of protein S, protein C, and antithrombin

Thrombophilia refers to the body’s tendency to form abnormal blood clots.

It can be particularly dangerous for pregnant women, which is why women planning pregnancy are advised to get tested for inherited thrombophilias.

It’s important to note that contraceptive pills are contraindicated for women with this type of thrombophilia.

Although less known, these conditions can be particularly dangerous for athletes who use various supplements and hormones during their training. In some cases, inherited thrombophilia, combined with hormone therapy, can lead to sudden death in athletes.

Frequently Asked Questions

1. Can every disease be inherited?

No, most diseases are not inherited. A disease is considered inherited only if it is caused by a genetic mutation that is passed down from generation to generation.

2. Will I get sick if hereditary diseases run in my family?

No, having a gene for a certain disease does not guarantee that you will get sick. Genetic predispositions can increase the risk, but many factors, such as lifestyle and environment, also play a role in the development of diseases.

4. Is it possible to prevent hereditary diseases?

While geneticists are researching ways to “fix” genes in the future, the reality is that we cannot currently change them. Thus, we cannot directly prevent hereditary diseases. However, since some hereditary diseases are influenced by both genetic mutations and environmental factors, reducing exposure to these environmental factors can lower the risk of developing such diseases.

A girl making a protein shake because she likes to eat healthy.
We cannot prevent hereditary diseases. However, by changing bad habits, we can reduce the risk of developing them.

Discover the Truth About Your Genes – Today!

Genetics is both fascinating and intimidating, particularly because it is often linked to pathogenic disorders. However, this should not be a cause for panic. While it is possible that you carry genes that could lead to a hereditary disease, it is equally possible that you won’t develop any illness, even if you have these mutated genes. Regardless of your situation, we recommend consulting with your family to determine if certain diseases are prevalent. Based on this information, you can undergo detailed genetic testing to find out if you have inherited any “defective” genes.

At IntroLab, our doors are always open for genetic testing and consultations. Visit us today, and together we will help you dispel any doubts and feel more secure!

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