Rare metabolic diseases that only manifest themselves in adulthood present doctors with major diagnostic challenges. Unspecific symptoms make it difficult to assign them to specific clinical pictures, and those affected often remain without a correct diagnosis for years. The integration of genetic tests offers a breakthrough here: it not only enables precise diagnoses, but also individualized, targeted therapy.

Genetic diagnostics as a milestone

Rare metabolic diseases that manifest themselves in adulthood are a growing topic in modern medicine. It is estimated that over 50,000 adults in Germany, Austria and Switzerland live with one of these diseases. However, due to the often unspecific symptoms, such as fatigue, bone pain or recurrent infections, the diagnosis is often missed – with sometimes serious consequences for those affected.

A key advance in diagnostics is the systematic integration of genetic analyses. These not only make it possible to identify underlying mutations, but also provide important information on prognosis and suitable therapeutic approaches.

One example is Fabry disease: while enzymatic tests are often reliable in men, they can remain inconspicuous in women due to the second X chromosome, even though they show symptoms. In this case, genetic diagnostics enable a clear diagnosis to be made. The same applies to diseases such as hypophosphatasia, whose clinical characteristics are highly variable. Genetic analyses not only allow the diagnosis to be confirmed, but also support the differential diagnosis of other diseases.

Getting to the heart of therapies

Early and precise diagnosis through genetic testing opens up new therapeutic perspectives for patients. Enzyme replacement therapies, substrate inhibition or novel approaches such as chaperone therapies can be used in a targeted manner and significantly slow down the progression of the disease. Individualized therapy is essential, especially for rare diseases where symptoms often appear gradually.

Easy access for clinical practice

Genetic diagnostics is low-threshold and only requires an EDTA blood sample. Doctors can request this directly after informing the patient – without any additional qualifications. In addition to the diagnosis of affected patients, genetic analysis also allows the identification of at-risk individuals within the family.

The future of diagnostics

The integration of genetic testing into routine diagnostics expands the possibilities of personalized medicine. It not only offers precision and clarity, but also makes it possible to tailor treatment to the individual needs of patients. It therefore marks a decisive milestone in the diagnosis of rare metabolic diseases.

The Limbach Group supports you in the selection and implementation of suitable tests. Our expertise is at your disposal for the interpretation of the results and the derivation of therapeutic measures. Please do not hesitate to contact us for further information. Contact us: stoffwechsel@limbachgruppe.com / info@medgen-mainz.de

Literature:

vom Dahl S, Lammert F, Ullrich K, Wendel U (eds.): Inborn errors of metabolism in adults. Springer-Verlag Berlin/Heidelberg, 2014.

de la Fuente M, Lombardero L, Gómez-González A et al: Enzyme Therapy: Current Challenges and Future Perspectives. Int J Mol Sci. 2021; 22 (17): 9181. DOI: https://doi.org/10.3390/ijms22179181

Bernardes et al: Fabry disease: genetics, pathology, and treatment. 2020. DOI: https://doi.org/10.1590/1806-9282.66.S1.10

Mole SE, Anderson G, Band HA et al: Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. Lancet Neurol, 2019; 18 (1): 107-116. DOI: https://doi.org/10.1016/S1474-4422(18)30368-5

NCL Foundation / Steinfeld R, Nickel M: KINDERDEMENZ: Diagnosis and therapy of neuronal ceroid lipofuscinoses (NCL) – with a focus on juvenile CLN3.

CME training, 2023. URL: https://cme.medlearning.de/ncl-stiftung/kinderdemenz_rez/pdf/cme.pdf

The respective companies are responsible for the content of the “Corporate News” section