“Neurofibromatosis type 1 (NF1), also known as Von Recklinghausen disease, named after the pathologist who described it, is a rare disease of very common genetic origin, caused by variants in the NF1 gene, with neurocutaneous predominance, that is, the clinical manifestations are found in the skin and nervous system”, assured Dr. Rodrigo Moreno Salgado, Head of the Genetics Department of the Federico Gómez Children’s Hospital of Mexico.
On November 15, the third conference of the cycle “Genetics Applied to the Clinic” was held, organized by the Department of Embryology and Genetics (DEyG) of the UNAM Faculty of Medicine, which Its objective is to update doctors, students and health personnel in related areas, in relation to current topics in Medical Genetics. Dr. Adrián García Cruz, Head of said Department, welcomed the attendees.
During the activity carried out in the “Dr. Alberto Guevara Rojas” and broadcast by YouTubeDr. Juana Inés Navarrete Martínez, DEyG Genetics Coordinator, introduced the speaker and reminded the audience that The intention of the sessions is to show the usefulness of timely diagnoses in genetic diseases, which in the past were thought to be incurable and currently many already have treatment, such as neurofibromatosis type 1.
To begin the session, Dr. Moreno Salgado mentioned that, in recent years, NF1 has been diagnosed more frequently in the group of rare diseases: “This is largely due to advances in the area of Genetics and the higher incidences (1 per 3,500 individuals) because it is associated with a paternal age at risk at the time of pregnancy (father over 40 years of age).”.
In that sense, he explained that To diagnose NF1 there are different criteria, some of them are: 6 or more brown spots greater than 5 mm in diameter in prepubertal or greater than 15 mm in postpubertal, ephelides or freckles in the axillary or inguinal region, two or more neurofibromas ( benign tumors) or a plexiform neurofibroma (benign congenital tumors), two or more Lisch nodules (benign tumors iris level), typical bone lesions, among others.
On the other hand, Dr. Moreno Salgado commented that Some of the therapeutic strategies used in the treatment of tumors are selective MEK inhibitors, medications indicated for symptomatic and inoperable plexiform neurofibromas, with the aim of reducing pain, deformation and improving functionality, increasing quality of life, However, they are medications for chronic use, are high cost and cause adverse skin reactions such as acne and alopecia.
“We have been managing patients with MEK inhibitors for 3 years and they have not required a reduction in treatment, although we do not eliminate the tumor because it is currently impossible to do so with medications alone, we do reduce the volume and consistency, we are not saving lives like in emergency services , but we do make a very important change in patients and families, improving their quality of life in the long term.”.
Photographs: Courtesy of the Department of Embryology and Genetics, FacMed, UNAM
The speaker concluded that NF1 is a rare disease with high frequency in this group, with specific targeted therapies that have a high impact for patients: “Early diagnosis and multidisciplinary management is extremely important to avoid complications and offer a better quality of life. Involving patients in the management of their diseases, especially from the early stages, is a fundamental pillar for treatment.”.
To conclude the event, Dr. Navarrete Martínez and Dr. García Cruz again thanked the public and the speaker, and extended an invitation to the next conference to be held on January 17, 2025.
Tomas Ortega
Given Dr. Moreno Salgado’s statement about increased genetic testing availability contributing to the rise in NF1 diagnoses, what are the potential ethical considerations surrounding widespread genetic testing for conditions like NF1, particularly regarding patient privacy and potential discrimination?
## World Today News Exclusive: Unpacking Neurofibromatosis Type 1
**Welcome to World Today News. Today, we are diving deep into the complexities of Neurofibromatosis type 1 (NF1) with two esteemed medical professionals.**,
Our guests are Dr. Rodrigo Moreno Salgado, Head of the Genetics Department at the Federico Gómez Children’s Hospital of Mexico, and Dr. Juana Inés Navarrete Martínez, Genetics Coordinator at the Department of Embryology and Genetics (DEyG) at the UNAM Faculty of Medicine.
**Section 1: Understanding NF1 – A Wider Lens**
**Interviewer:** Dr. Moreno Salgado, in your presentation, you mention that NF1, while rare, is becoming increasingly diagnosed. What factors do you believe contribute to this rise in diagnoses?
**Dr. Moreno Salgado:** (Expands on points made in the article, potentially mentioning increased genetic testing availability, growing awareness among medical professionals, and changing diagnostic criteria)
**Interviewer:** Dr. Navarrete Martínez, how has the understanding and perception of genetic diseases like NF1 evolved over the years?
**Dr. Navarrete Martínez:** (Discusses the shift from perceptions of incurable diseases to the emergence of treatments and improved quality of life for patients. She may touch upon the role of genetic counseling and patient advocacy in this evolution)
**Section 2: Diagnosis and Treatment – Navigating the Challenges**
**Interviewer:** Dr. Moreno Salgado, the article highlights various diagnostic criteria for NF1. Can you elaborate on the significance of early diagnosis and the potential challenges in recognizing the condition?
**Dr. Moreno Salgado:** (Discusses the nuances of diagnosing NF1, emphasizing the importance of a detailed medical history, physical examination, and potentially genetic testing. He might also address the variations in symptom presentation and the need for multidisciplinary assessments. )
**Interviewer:** Both doctors, the article mentions MEK inhibitors as a therapeutic option for plexiform neurofibromas. Could you explain the mechanism of action of these drugs and discuss their benefits and limitations?
**Dr. Moreno Salgado & Dr. Navarrete Martínez:** (Engage in a discussion on the role of targeted therapies in NF1. They may touch upon the balance between treatment benefits, potential side effects, long-term management strategies, and the necessity for ongoing research in this field.)
**Section 3: Empowering Patients – A Holistic Approach**
**Interviewer:** Dr. Navarrete Martínez, the article emphasizes the importance of patient involvement in managing NF1. Can you elaborate on the role of education, support networks, and multidisciplinary care in empowering patients and their families?
**Dr. Navarrete Martínez:** (Discusses the importance of comprehensive care that addresses the physical, emotional, and social needs of patients. She could highlight the value of patient education programs, online support communities, and the collaboration between different medical specialties.)
**Interviewer:** Looking forward, what are the most promising avenues of research and potential breakthroughs in the field of NF1?
**Both Doctors:** (Share their insights into the future direction of NF1 research, potentially mentioning ongoing clinical trials, advancements in gene therapy, and the possibility of personalized medicine approaches.)
**Closing:**
**Thank you, Dr. Moreno Salgado and Dr. Navarrete Martínez, for providing such valuable insights into NF1. We hope that this interview will raise awareness and shed light on the importance of timely diagnosis, effective treatments, and empowered patient care in the management of this complex genetic disorder.**
