Варикоз і аневризма: яку роль грає спадковість

When varicose veins or an aortic aneurysm recur in the same family, the most obvious explanation is heredity. However, familial clustering does not mean that the same genetic model underlies both conditions. For varicose veins, genetic predisposition is shaped by the combined effect of numerous variants, each with a small contribution, which also interact with non-genetic factors (Soh et al., J Vasc Surg Venous Lymphat Disord., 2025). For aortic aneurysm, the spectrum is broader: some forms of thoracic aortic aneurysm may be linked to rare high-effect variants (ACC/AHA, Aortic Disease Guideline, 2022), whereas abdominal aortic aneurysm has a predominantly polygenic architecture (Singh et al., Atherosclerosis, 2021).

For more on cardiovascular health and the role of genetics, see the article The Cause of Cardiovascular Disease Isn’t Just “Bad” Cholesterol: What Genetics Says.

Genetic predisposition to varicose veins and aneurysm has a different hereditary nature

A family history of varicose veins and aortic aneurysm may point to a genetic predisposition. The number of genetic variants that make up this predisposition differs between the two conditions, and it determines how accurate any conclusion about an individual person’s risk can be. For varicose veins, the genetic contribution is polygenic: numerous variants make a small contribution to an overall predisposition that forms together with non-genetic factors (Soh et al., J Vasc Surg Venous Lymphat Disord., 2025). For aortic aneurysm, there is no single genetic model — which is exactly why family history cannot be read the same way for both conditions.

The presence of such cases in a family does not mean the same genetic scenario for everyone: the age at onset, the type of lesion, and whether it is an aneurysm or a dissection (separation of the aortic wall between its layers) change what exactly the family history shows. For varicose veins and for most cases of abdominal aortic aneurysm, this is a polygenic predisposition that raises the likelihood but does not determine the outcome. Thoracic aortic aneurysm is an exception: familial cases, especially with dissection or early onset, more often point to a hereditary form with a clearer genetic component, and therefore affect the approach to examining relatives (ACC/AHA, Aortic Disease Guideline, 2022).

Predisposition to varicose veins is shaped by thousands of genetic variants

Predisposition to varicose veins is polygenic in nature: it is shaped by the combined influence of a large number of genetic variants, each of which has a small effect on its own. These variants are related to the properties of the venous wall and the work of the venous valves. This is why varicose veins cannot be reduced to the action of a single “varicose-vein gene.” The combined contribution of these variants is calculated by a polygenic risk score (PRS).

A systematic review of GWAS of chronic venous disease, which covered 13 studies, 602,760 cases of varicose veins, and 3,664,604 control participants, identified genetic associations with inflammation and immune response, vascular architecture, and blood pressure regulation (Soh et al., J Vasc Surg Venous Lymphat Disord., 2025). Some of the identified associations were not confirmed in independent samples (Soh et al., J Vasc Surg Venous Lymphat Disord., 2025).

None of the identified variants determines whether varicose veins will appear or how pronounced the changes will be: genetic predisposition is realized together with age, pregnancy, prolonged static load, and hormonal changes. It is this interaction of genetic and non-genetic factors that explains why, with the same predisposition, clinical manifestations can differ significantly.

Thoracic and abdominal aortic aneurysm are inherited differently

Aortic aneurysm combines several conditions, each with its own genetic model: the location of the aneurysm changes the clinical conclusion drawn from family history.

Thoracic aortic aneurysms and aortic dissection may be part of hereditary aortopathies — syndromic ones, for example Marfan syndrome, linked to the gene FBN1 (fibrillin 1), and non-syndromic forms, in which the cause in some families is a pathogenic variant in a specific gene (ACC/AHA, Aortic Disease Guideline, 2022). In such families, family history has direct clinical significance: the ACC/AHA guideline recommends collecting a multigenerational family history in cases of aortic root or ascending aortic aneurysm and dissection, and using genetic testing when there are signs of hereditary aortopathy (ACC/AHA, Aortic Disease Guideline, 2022). If a specific pathogenic variant has been confirmed in a person, the guideline recommends offering genetic testing to first-degree relatives (ACC/AHA, Aortic Disease Guideline, 2022). 

Even a confirmed pathogenic variant does not guarantee the same scenario for all carriers: incomplete penetrance and variability of clinical manifestations within the same family have been described for hereditary aortopathies — two relatives with the same variant may differ in age of onset and severity of course (ACC/AHA, Aortic Disease Guideline, 2022).

Abdominal aortic aneurysm has a different genetic architecture. Estimated heritability is 70–77%, but this is not heritability through a single gene: a systematic review of GWAS of abdominal aortic aneurysm identified 33 variants associated with the diagnosis at genome-wide significance, including at the 9p21 locus, where the gene CDKN2B-AS1 is located (Singh et al., Atherosclerosis, 2021). No single variant explains the risk on its own: the logic of one determining gene does not work here the way it does for some thoracic aneurysms.

If an abdominal aortic aneurysm has been diagnosed in parents, siblings, or children, it is worth telling your doctor at any age. The ESC guideline recommends an ultrasound examination of the aorta for such people from the age of 50 (ESC, Peripheral Arterial and Aortic Diseases Guideline, 2024).

Which details of family history to consider in varicose veins and aneurysm

The fact of a diagnosed case of varicose veins or aneurysm in a family does not show which genetic model stands behind it — details are needed for that. For varicose veins, family history is one of the factors that shape overall predisposition. It complements, rather than replaces, an examination and assessment of symptoms.

For aneurysm, the details of family history matter far more: the age at which a relative’s aneurysm appeared, the number of affected relatives, and the presence of dissection or sudden unexplained death in the family. Such details suggest whether it is a typical polygenic scenario or a possible hereditary aortopathy (ACC/AHA, Aortic Disease Guideline, 2022).

Family history records the fact that a condition recurs in a family. Clinical and instrumental examination — ultrasound, CT, or MRI of the aorta — shows the state of the vessels at the time of the examination, regardless of which genetic model lies behind it. Neither source replaces the other.

What a genetic test can and cannot say about vascular risk

A genetic test analyzes genetic variants associated with predisposition to varicose veins and provides genetic context for family history, complementing other health data.

A genetic test does not establish varicose veins, does not confirm the presence of an aneurysm, does not determine when exactly it will appear, and does not replace ultrasound, CT, or MRI of the aorta or a doctor’s consultation. A genetic predisposition identified by DNA testing will not necessarily develop into a diagnosis.

This limit of genetic testing is especially important for aneurysm: hereditary forms of thoracic aortopathy require clinical assessment and, when indicated, specialized genetic testing of specific genes (ACC/AHA, Aortic Disease Guideline, 2022).

Apixmed Prism makes it possible to assess genetic predisposition to varicose veins and aneurysm and to add hereditary context to other health data. Such information helps to better understand the genetic component of risk and to take it into account together with other factors.

What to do if varicose veins or aneurysm run in your family

If varicose veins run in your family, family history should be considered together with symptoms, which include swelling, heaviness in the legs, and visible dilated veins. If there has been a thoracic aortic aneurysm or aortic dissection in your family, discuss the family history with your doctor. In certain family scenarios, the guidelines provide for examination of relatives and, when indicated, genetic counseling and aortic imaging (ACC/AHA, Aortic Disease Guideline, 2022; ESC, Peripheral Arterial and Aortic Diseases Guideline, 2024).

Varicose veins and aneurysm call for different actions, even with the same family history

Family history of varicose veins and aneurysm is associated with different genetic models, and neither works the same way for both conditions. For varicose veins, it is almost always a multifactorial predisposition in which no single variant decides the outcome. For aortic aneurysm, family history can point either to the polygenic picture of the abdominal aorta or to a rare high-effect variant in the thoracic aorta. The location, the age at onset, and the number of cases in the family determine which model is relevant in a particular family.

To find out your own genetic predisposition to varicose veins — the Apixmed Prism “Cardiovascular System” test.

Frequently asked questions

Do varicose veins in parents mean children will definitely have them too?

Family history raises the likelihood, but varicose veins are multifactorial in nature: no single genetic variant on its own determines whether the condition will appear and how pronounced it will be.

How does a thoracic aortic aneurysm differ genetically from an abdominal aortic aneurysm?

Thoracic aortic aneurysms may be linked to rare high-effect variants in individual genes and have a clearly hereditary character. Abdominal aortic aneurysm more often has a polygenic nature, with a contribution from a large number of genetic variants and the influence of age and smoking.

Is a genetic test needed if there has been an aortic aneurysm in the family?

It depends on the details: the age at onset of the disease, the number of relatives with an aneurysm, and the presence of dissection. The Apixmed Prism genetic test shows overall predisposition to vascular conditions, including varicose veins. For familial cases of thoracic aortic aneurysm, the guidelines provide for clinical assessment and, when indicated, specialized genetic testing for hereditary aortopathies.

Does a genetic test show that I already have an aneurysm?

A genetic test shows inherited predisposition relative to a reference population, not the current state of the vessels. The presence of an aneurysm is established by instrumental methods — ultrasound, CT, or MRI of the aorta.

Genetic test results are not a diagnosis and not a substitute for a doctor’s consultation. The Apixmed Prism report provides genetic context that complements the results of examinations and helps in making decisions together with your doctor. 

Sources

1. Soh, C. L., Tan, M., Davies, A. H., Onida, S. (2025). Genome-wide association studies in chronic venous disease: A systematic review. Journal of Vascular Surgery: Venous and Lymphatic Disorders. https://doi.org/10.1016/j.jvsv.2025.102365

2. American College of Cardiology / American Heart Association (ACC/AHA). (2022). 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease. Journal of the American College of Cardiology, 80(24), e223–e393. https://doi.org/10.1016/j.jacc.2022.08.004

3. European Society of Cardiology (ESC). (2024). 2024 ESC Guidelines for the management of peripheral arterial and aortic diseases. European Heart Journal, 45(36), 3538–3700. https://academic.oup.com/eurheartj/article/45/36/3538/7738955

4. Singh, T. P., Field, M. A., Bown, M. J., Jones, G. T., Golledge, J. (2021). Systematic review of genome-wide association studies of abdominal aortic aneurysm. Atherosclerosis, 327, 39–48. https://doi.org/10.1016/j.atherosclerosis.2021.05.001