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Principles of Treatment for Hereditary Diseases

For medical students2 min readUpdated 2026-10-10

The treatment of hereditary pathologies is based on three fundamental principles: eliminating the root cause, interrupting the chain of pathogenesis, and alleviating clinical symptoms. Modern methods make it possible to compensate for genetic defects and significantly improve patients' quality of life.

Etiotropic therapyGene therapy to correct DNA defects (currently under development and clinical evaluation).
Replacement therapyAdministration of a deficient substance that is not synthesized due to a gene anomaly.
Metabolic correctionRestricting the intake of unabsorbable substances and eliminating excess metabolites.
SurgeryFacial defect reconstruction, syndactyly separation, and vascular shunting.
PreventionPreventing diseases associated with changes in gametes and heredity.

Etiological Principle of Therapy

Goal: Complete elimination of the genetic cause of the disease and associated risk factors.

Main method: Gene therapy. It involves the targeted correction of identified genetic defects at the DNA level. Today, this field is considered the most promising; however, most techniques are still in the stages of laboratory development, clinical evaluation, or are only partially applied in medical practice.

Pathogenetic Principle of Therapy

Goal: To interrupt the mechanisms of disease development (breaking the links of pathogenesis) triggered by a mutation. This approach is implemented through three main strategies:

  1. Replacement therapy. The patient is artificially administered a substance that the body cannot synthesize independently due to a gene defect.
  2. Examples: Regular insulin injections in diabetes mellitus, administration of specific enzymes in glycogen storage diseases, and the use of antihemophilic globulin in hemophilia.
  1. Metabolic correction. Allows for the mitigation of biochemical disruptions in three ways:
  2. Restricting the intake of substances that are metabolically unabsorbable (strict diet excluding phenylalanine or lactose).
  3. Stimulating the excretion of metabolites that accumulate in excess in the body (accelerated elimination of cholesterol or phenylpyruvic acid).
  4. Regulating enzyme activity (suppressing creatine phosphokinase activity in certain myopathies or activating blood lipoprotein lipase in hypercholesterolemia).
  1. Surgical correction of defects. Surgical intervention to compensate for metabolic disturbances.
  2. Example: Formation of a portosystemic shunt between the inferior vena cava and the portal vein in patients with hepatogenic glycogen storage diseases.

Symptomatic Therapy

Goal: Relief of disease manifestations that worsen the patient's condition. This approach does not eliminate the genetic cause of the pathology, but it is critically important for alleviating symptoms and improving quality of life.

Examples of clinical application:

Preventive Direction of Medical Genetics

Goal: To prevent the birth of affected children or minimize the risk of manifestation of diseases whose etiology is driven by genomic alterations.

Preventive measures are strictly targeted at three categories of genome alterations:

  1. Mutations occurring directly in the parents' germ cells (gametes).
  2. Pathological changes inherited from previous generations (familial loading).
  3. Changes that manifest against the background of a genetic predisposition under the triggering influence of adverse environmental factors.

Mnemonic

To remember the three main treatment principles, use the acronym EPS: Etiological (eliminate the cause — fix the gene), Pathogenetic (break the chain — give an enzyme or correct metabolism), Symptomatic (relieve the condition — manage symptoms).

Frequently asked questions

What types of vectors are used for DNA delivery in gene therapy?

Retroviral vectors are used for DNA delivery in gene therapy. The treatment process involves creating a specialized retrovirus containing vector DNA with the inserted normal allele of the required gene. Upon infecting isolated patient cells (e.g., leukocytes) with the created retrovirus, integration occurs: the viral DNA fragment with the normal gene incorporates into the host cell chromosomes for subsequent transgene expression.

What invasive methods of prenatal diagnosis for hereditary diseases exist?

Procedures for prenatal diagnosis of hereditary diseases in the fetus include:

  • Chorionic villus sampling (CVS);
  • Placental biopsy (placentocentesis);
  • Amniocentesis;
  • Cordocentesis;
  • Choriocentesis.

Laboratory analysis of the material includes cytogenetic testing (karyotyping) and molecular-genetic methods.

What is the essence of replacement therapy in hereditary diseases?

It consists of introducing a deficient substance into the body that is not synthesized due to a gene anomaly. Classic examples include insulin injections for diabetes mellitus or enzyme replacement in glycogen storage diseases.

How can metabolism be corrected in genetic defects?

Metabolism is corrected in three ways: restricting the intake of unabsorbable substances (e.g., lactose exclusion), eliminating excess toxic metabolites, and pharmacologically regulating enzyme activity.

Does symptomatic therapy cure a hereditary disease?

No, symptomatic therapy does not eliminate the genetic cause of the pathology. Its main objective is to relieve symptoms that worsen the patient's condition and to alleviate the clinical manifestations of the disease.

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