The arduous challenge of seeking for biomarkers in rare diseases

Hereditary haemorrhagic telangiectasia (HHT) is a rare genetic vascular disease that can significantly impair the quality of life of affected patients. Medical management is mainly aimed at treating the symptoms and at preventing life-threatening complications, while a therapy for the disease is still missing. In this medical scenario, the availability of prognostic and therapeutic monitoring tools is strongly desirable for clinical practice. According to this, the use of biomarkers could be very helpful. These are biological entities that reflect characteristics referred to a particular biological state or to its changes; in general, they should have clinical and analytical validity, be measured by reliable, accurate and reproducible tests, and they should provide information about the diagnosis, prognosis, follow-up and monitoring of therapeutic response of a specific disease. [...]