Debrecen4U
September 26, 2025
A unique lipidology and genetics collaboration has been established at the University of Debrecen
The Clinical Center of the University of Debrecen is the country’s leading center for the diagnosis of rare lipid metabolism disorders.
The Department of Metabolic Diseases of the Department of Internal Medicine and the Clinical Genetics Center work together in a unique way at the national level for the early recognition, accurate diagnosis, and targeted treatment of rare but treatable genetic lipid metabolism disorders.
At the Clinical Center of the University of Debrecen, Hungary, it offers a unique setup where clinical lipidology, treatment of fat metabolism disorders, advanced laboratory services, and targeted genetic diagnostics are all available in one location.
A high-level, daily professional relationship has been established between clinicians and geneticists.
After the general laboratory examination, in order to establish the most accurate diagnosis possible, genetic testing is performed at the Clinical Genetics Center at the request of the lipidologist, and then the geneticist and the lipidologist consult directly about the results.
“We screen and diagnose rare diseases and lipid metabolism disorders that, if recognized in time, can be cured or treated asymptomatically, but if delayed, cause serious, quality-of-life-impairing, or even life-threatening complications. That is why it is of utmost importance to determine the exact diagnosis as soon as possible and to start the appropriate therapy in a timely manner. Some patients already have complaints in childhood, yet they often live for years without a diagnosis, although if we detect, for example, a disease called CTX (cerebrotendinous xanthomatosis) in someone in childhood and then start treatment, we can avoid serious neurological complications, mental deterioration, and the development of early atherosclerosis, which can cause a significant deterioration in quality of life and premature death. The Clinical Center of the University of Debrecen has the appropriate laboratory and genetic background to diagnose these rare diseases accurately and quickly,” said the university professor at the University of Debrecen, head of the Department of Metabolic Diseases of the Department of Internal Medicine of the Clinical Center, Mariann Harangi.
The Clinical Center of the University of Debrecen diagnoses a number of rare diseases. These include cerebrotendinous xanthomatosis (CTX), a metabolic disease with neurological symptoms but which is easily treatable; familial hypercholesterolemia (FH), a hereditary condition with high cholesterol levels, in which early cardiovascular disease can be prevented by treatment starting in childhood. In addition, the institution is unique in identifying familial dysbetalipoproteinemia (FDBL), familial chylomicronemia syndrome, and Smith-Lemli-Opitz (SLO) syndrome, a congenital metabolic disease with severe developmental abnormalities. In the latter case, the University of Debrecen is the only member of the MetabERN section of the European Reference Network dealing with metabolic diseases in Hungary.
The Clinical Genetics Center performs the most advanced targeted genetic tests and also organizes family tree-based screenings in a unique way.
“The diagnosis of a single patient can determine the health of an entire family. The clinical genetic background allows us to specifically screen family members after the genetic diagnosis of a patient. This so-called cascade screening also creates the opportunity for timely examination and preventive treatment of the patient’s family members. The geneticist draws a family tree and identifies those blood relatives for whom testing for the genetic abnormality found in the patient is warranted. This points towards preventive medicine, i.e., if we diagnose the patient early, we can prevent or delay the development of symptoms, emphasized István Balogh, professor and head of the Clinical Genetics Center of the University of Debrecen.
The joint work of lipidologists and geneticists has resulted in numerous international publications and PhD dissertations in recent years.
The education of hereditary lipid metabolism diseases has also played a role in the graduate training of medical students at the University of Debrecen.
After sampling at the Department of Obstetrics and Gynecology of the Clinical Center of the University of Debrecen, prenatal fetal diagnostics are also available, which can be the basis for important reproductive decisions, for example in the case of the inherited, very serious genetic disease Smith-Lemli-Opitz syndrome (SLO).
Source:dehir.hu | Photo credit:Facebook (Debrecen városa)
