• Said Farschtschi, Pia Vaassen, Lan Kluwe, Tabea Hartung, Johannes Salamon, and Thorsten Rosenbaum.
• Dtsch Arztebl Int. 2025 Feb 21 (Forthcoming).

BackgroundNeurofibromatosis type 1 (NF1) is a rare genetic disorder affecting multiple bodily systems that predisposes to the development of tumors. It affects approximately 1 in 3000 newborns in Germany. Its clinical manifestations are diverse and complex, and its diagnostic and therapeutic management call for specialized knowledge and experience. The lack of nationwide guidelines and recommendations further increases the difficulty of establishing an appropriate standardized and interdisciplinary approach.MethodsThe suggestions presented here are based on a selective literature review, international guidelines, and our own clinical experience over many years.ResultsWe propose an age-adapted diagnostic and therapeutic approach to patients with NF1, subdivided into four main areas. We suggest follow-up examinations every one to two years to address typical course of the disease as well as administrative aspects, such as care by pediatricians. Whole-body magnetic resonance imaging (MRI) should be performed when the diagnosis is made. MRI and ultrasonography of particular body regions should be performed where appropriate. The NF1 gene should be sequenced to determine the causative pathogenic variant and as an aid to genetic counseling. If this fails to reveal a pathogenic variant, the NF1 gene should also be sequenced in tumor tissue. The vitamin D3 and sex hormone status are also relevant, as are serum metanephrines. Further specialist consultations may be necessary, and their findings should be discussed in an interdisciplinary framework.ConclusionThese recommendations are intended to serve as a guide to a standardized interdisciplinary approach to the management of patients with NF1 in Germany, based on an up-to-date scientific understanding of the disease. This approach should improve care overall, both by enabling better care and by eliminating unnecessary diagnostic studies.

12 keywords...

hide…