¿QUÉ ES LA NEUROFIBROMATOSIS? | Síntomas, Diagnóstico y Tratamiento

Neurofibromatosis type 1 (NF1) is a genetic disease that affects approximately 1 in 3,000 people. It is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is needed to develop the condition. The most common symptoms include café-au-lait spots, neurofibromas (benign growths on the nerves), Lisch nodules in the eyes, and possible bone and neurological complications. Patients may experience learning disabilities, attention deficit disorder, and, in some cases, tumors in the nervous system. Diagnosis is based on clinical observation, imaging tests such as MRI, and ophthalmologic examinations. Genetic testing can also be performed to confirm the disease. Although there is no cure, management of NF1 focuses on medical follow-up, symptom control, and, in some cases, treatments such as MEK inhibitors to reduce tumor growth. Early diagnosis and a multidisciplinary approach are essential to improving patients' quality of life. With adequate information and medical and psychological support, people with NF1 can lead full lives.