Materiały źródłowe

• #1 Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30006586/

  Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a heterozygous loss-of-function variant in the tumor suppressor gene NF1; it affects ~1/1,900-1/3,500 people worldwide. The disorder is associated with an 8-15-year reduction in average life expectancy in both men and women, primarily due to malignant neoplasms and cardiovascular causes. […] Malignant peripheral nerve sheath tumor (MPNST), breast cancer, cutaneous neurofibromas, and significant psychiatric and neurologic diagnoses are common problems in patients with NF1. […] Patient education and sensitization to worrisome signs and symptoms such as progressive severe pain (MPNST), changes in tumor volume (MPNST), new, unexplained neurologic symptoms (MPNST, brain tumors), and diaphoresis/palpitations (pheochromocytoma) are important. Although many issues in adults with NF1 can be managed by an internist or family physician, we strongly encourage evaluation by, and care coordination with, a specialized NF1 clinic.

• #2 Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine

  https://www.nature.com/articles/gim201828

  Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a heterozygous loss-of-function variant in the tumor suppressor gene NF1; it affects ~1/1,9001/3,500 people worldwide. The disorder is associated with an 815-year reduction in average life expectancy in both men and women, primarily due to malignant neoplasms and cardiovascular causes. […] Patient education and sensitization to worrisome signs and symptoms such as progressive severe pain (MPNST), changes in tumor volume (MPNST), new, unexplained neurologic symptoms (MPNST, brain tumors), and diaphoresis/palpitations (pheochromocytoma) are important. Although many issues in adults with NF1 can be managed by an internist or family physician, we strongly encourage evaluation by, and care coordination with, a specialized NF1 clinic.

• #3 Neurofibromatosis type 1: a multidisciplinary approach to care – PubMed

  https://pubmed.ncbi.nlm.nih.gov/25030515/

  Neurofibromatosis type 1 is a relatively common inherited disorder. Patients have a high predisposition to develop both benign and malignant tumours. […] Because of the varying features and clinical heterogeneity inherent to this disorder, patients can present to different medical and surgical specialists and, therefore, the association of clinical symptoms with neurofibromatosis type 1 might not be appreciated. Thus, for prompt diagnosis and to provide optimum care for patients with neurofibromatosis type 1, clinicians must be aware of the diverse clinical features of this disorder. We advocate a multidisciplinary approach to care, entailing a dedicated team of specialists throughout the lifetime of the patient. […] As our understanding of this disorder deepens through basic laboratory and clinical investigations, swift implementation of new effective treatments becomes feasible.

• #4 Neurofibromatosis Type 1: Optimizing Management with a Multidisciplina | JMDH

  https://www.dovepress.com/neurofibromatosis-type-1-optimizing-management-with-a-multidisciplinar-peer-reviewed-fulltext-article-JMDH

  Neurofibromatosis Type I (NF1) is a complex genetic condition that affects multiple organ systems and presents a unique set of challenges for clinicians in its management. […] This review provides a comprehensive examination of the many specialties required for the care of patients with Neurofibromatosis Type 1 (NF1). […] The review underscores the importance of a multidisciplinary approach to NF1, emphasizing how such an approach can significantly improve patient outcomes and overall QOL. […] Central to this approach is the role of the NF expert, who guides a multidisciplinary team (MDT) comprising healthcare professionals from many areas of expertise. […] The MDT collaboratively addresses the multifaceted needs of NF1 patients, ensuring comprehensive and personalized care. […] The management of NF1 requires a multidisciplinary approach involving various medical specialties.

• #5 Neurofibromatosis Type 1 (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/nf.html

  Neurofibromatosis type 1 (NF1) is a genetic condition. It causes benign (not cancerous) tumors to grow in and under the skin, often with bone, hormone, and other problems. Most kids with NF1 have mild symptoms that don’t limit what they can do. […] There’s no cure for NF1, but treatment can make it easier for a child to live with its symptoms. Children with NF1 are cared for by a team that includes specialists in neurology: for problems with the nerves, brain, and spinal cord, plastic surgery: to treat appearance concerns, oncology: to treat or remove tumors, ophthalmology: for eye problems, orthopedics: for bone problems, endocrinology: for hormone problems, psychiatry and behavioral health: to help with behavior and attention issues. […] Most children with NF1 have mild symptoms, and live full, typical lives. A child with NF1 needs regular checkups so doctors can look for eye problems, blood pressure problems, new tumors, tumor growth, scoliosis, learning problems.

• #6 Importance of Multidisciplinary Care in Management of Neurofibromatosis Type 1 Related Plexiform Neurofibroma

  https://www.neurologylive.com/view/importance-of-multidisciplinary-care-in-management-of-neurofibromatosis-type-1-related-plexiform-neurofibroma

  Kaleb Yohay, MD, an expert in NF1-PN, emphasizes the importance of multidisciplinary and comprehensive team care in managing the condition, detailing the essential team members required to facilitate a successful transition from adolescent to adult care. […] What is the role of a multidisciplinary and comprehensive team care in the management of NF1-PN, and who are the necessary team members to help accomplish successful transition?

• #7 Neurofibromatosis Type 1: Optimizing Management with a Multidisciplina | JMDH

  https://www.dovepress.com/neurofibromatosis-type-1-optimizing-management-with-a-multidisciplinar-peer-reviewed-fulltext-article-JMDH

  There is a clear benefit of this team being led by an NF specialist in that this ensures diverse aspects of the patients care are coordinated effectively. […] A designated NF clinic, therefore, serves the patient as a home-base and a portal for access to multidisciplinary care, making coordination far more seamless for both patient and provider. […] The use of a multidisciplinary approach to NF1 care, led by an NF expert, has emerged as an effective strategy to address these challenges. […] The MDT brings together healthcare professionals from many specialties, each contributing their unique expertise to provide comprehensive care for NF1 patients. […] This collaborative approach ensures that all aspects of the patients health are considered and addressed, from physical symptoms to psychological impacts.

• #8 Neurofibromatosis type 1 (NF1)

  https://www.nhs.uk/conditions/neurofibromatosis-type-1/treatment/

  Theres currently no cure for neurofibromatosis type 1 (NF1), but there are treatments that can help manage the symptoms and any complications. […] You’ll be supported by different healthcare professionals. This may include a brain specialist (neurologist), an eye specialist (ophthalmologist) and a skin specialist (dermatologist). […] Children will also be under the care of a doctor who specialises in the treatment of children (paediatrician). […] Treatment will depend on your symptoms and may include: medicine to stop tumours growing, surgery to remove tumours that are at risk of causing problems, using a beam of radiation to treat small tumours or pieces of a larger tumour that are left after surgery (radiotherapy). […] You or your child should have a check-up at least once a year so the symptoms can be monitored. This means any changes can be picked up early and are more likely to be successfully treated.

• #9 Neurofibromatosis type 1 (NF1)

  https://www.nhs.uk/conditions/neurofibromatosis-type-1/

  Neurofibromatosis type 1 (NF1) is a genetic condition where tumours grow on the nerves and skin. Theres currently no cure, but treatment can help manage your symptoms. […] Theres currently no cure for neurofibromatosis type 1 (NF1), but there are treatments that can help manage the symptoms and any complications. […] You’ll be supported by different healthcare professionals. This may include a brain specialist (neurologist), an eye specialist (ophthalmologist) and a skin specialist (dermatologist). […] Children will also be under the care of a doctor who specialises in the treatment of children (paediatrician). […] You or your child should have a check-up at least once a year so the symptoms can be monitored. This means any changes can be picked up early and are more likely to be successfully treated.

• #10 Neurofibromatosis type 1 – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/diagnosis-treatment/drc-20350495

  Our caring team of Mayo Clinic experts can help you with your neurofibromatosis type 1-related health concerns. […] Generally, the sooner someone is under the care of a specialist trained in treating NF1, the better the outcome. […] If your child has NF1, often yearly age-appropriate checkups are recommended to: Check your child’s skin for new neurofibromas or changes in existing ones. Check for signs of high blood pressure. Check your child’s growth and development. This includes measuring height, weight and head circumference to compare to growth charts for children who have NF1. Look for signs of early puberty. Look for any skeletal changes. Check your child’s learning development and progress in school. Get a complete eye exam. […] Contact your healthcare team right away if you notice any changes in symptoms between visits. Many complications of NF1 can be treated effectively if therapy starts early.

• #11 Neurofibromatosis Type 1: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177266-overview

  Medical care […] There is no cure for neurofibromatosis. Patients should be routinely monitored for complications. Annual examinations should include the following: […] Assessment of skin to look for new neurofibromas or progression of existing lesions […] Check of blood pressure […] Evaluation of growth and development […] A complete eye exam […] Evaluation of skeletal changes and abnormalities […] Assessment of learning development […] […] […] Surgical care […] Surgery can be used to remove tumors that cause pain or a loss of function. Neurofibromas that press on vital structures, obstruct vision, or grow rapidly deserve immediate attention. […] Orthopedic intervention is indicated for rapidly progressive scoliosis and for some severe bony defects.

• #12 Neurofibromatosis type 1 (NF1)

  https://www.nhs.uk/conditions/neurofibromatosis-type-1/treatment/

  Children with NF1 should have their eyes checked every year (adults every 2 years). Blood pressure should be checked every year. […] Your care team will be able to speak to you about this if you want to know more. […] If you have NF1 and are pregnant, you may get problems, such as narrowed arteries and high blood pressure. You may also get more tumours, or your tumours may get bigger and be itchy. […] If you or your child have neurofibromatosis type 1 (NF1), healthcare professionals will be there to support you throughout your treatment.

• #13

  https://journals.lww.com/nursing/fulltext/2019/04000/caring_for_children_with_neurofibromatosis_type_1.10.aspx

  Caring for children with neurofibromatosis type 1 […] GENERAL PURPOSE: To present an overview of NF1 in children. LEARNING OBJECTIVES/OUTCOMES: After completing this continuing-education activity, you should be able to: 1. Explain the pathophysiology of NF1. 2. List the various clinical manifestations of NF1. 3. Plan appropriate interventions for children with NF1. […] In specialty clinics that provide care for children with NF1, a major nursing focus is preventing complications. Most children who have NF1 require a referral for standardized IQ testing. School nurses should help ensure that children with NF1 can participate as much as possible in the regular academic curriculum.

• #14 Caring for the Pediatric Neurofibromatosis Type-1 Patient: Improving Nursing Knowledge through an Innovative Educational Tool

  https://scholarworks.sjsu.edu/etd_doctoral/117/

  Standardized nursing education can help equip nurses with appropriate skills needed to care for certain patient populations. Pediatric neurofibromatosis type-1 (NF1) patients have unique health needs, and often seek care at institutions where no NF1 training has been provided. […] The educational tool serves as a standardized reference from which nurses can familiarize themselves with the genetic nature of NF1, the clinical needs of the disorder, and the NF1 nursing role. […] Findings from this research suggest that the NF1 education tool is effective in improving nursing knowledge and knowledge perceptions about the complex care needed for NF1 patients. […] While fulfilling the American Nurses Association genetic and genomic nursing competency requirements, this educational tool can be used to standardize NF1 nursing education in hopes to enhance nursing practice and ultimately improve NF1 patient outcomes.

• #15 Genetic Disorder Reference Sheet: Neurofibromatosis Type 1 | Oncology Nursing Society

  https://www.ons.org/publications-research/voice/news-views/08-2023/genetic-disorder-reference-sheet-neurofibromatosis

  Neurofibromatosis type 1 (NF1) is an autosomal dominant condition that stems from a pathogenic variant in the NF1 gene, which regulates the production of the tumor-suppressing neurofibromin protein. […] NF1 is associated with an 8- to 15-year reduction in life expectancy, so lifetime screening and appropriate treatment guided by a team familiar with the disorder is necessary. […] Promptly identifying families with inherited NF1 variants and referring them to a genetics professional and center with experience managing NF1 disorder can help reduce morbidity and mortality. […] Nurses should also be aware of the disorders implications on other anticancer treatments, such an increased risk of developing malignant peripheral nerve sheath tumors in a radiation treatment field. […] NF1 disorders cutaneous manifestations often increase over time, and the accumulated cosmetic burden may contribute to distress and depression in affected individuals. Oncology nurses can assess for psychosocial distress and refer patients for counseling if indicated.

• #16 Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine

  https://www.nature.com/articles/gim201828

  Chronic pain is probably an underrecognized problem in NF1. Chronic pain from fingertip glomus tumors is rare but treatable. […] If pregnancy is not desired, contraception should be used. […] Referral to a high-risk obstetrician should be considered for pregnant women with NF1. […] In this Clinical Practice Resource, we have emphasized studies that investigated populations, multi-institution clinic cohorts, and large case series. […] Although it is important to always consider NF1-associated etiologies for a new sign or symptom, common explanations will remain common. Repeated patient education and sensitization to worrisome signs and symptoms such as progressive severe pain (MPNST), changes in tumor volume (MPNST), new, unexplained neurologic symptoms (MPNST, CNS tumors), and diaphoresis/palpitations (pheochromocytoma) are important.

• #17 Presentation: Patient with neurofibromatosis type 1 — In the Clinic

  https://www.genomicseducation.hee.nhs.uk/genotes/in-the-clinic/presentation-patient-with-neurofibromatosis-type-1/

  Advise affected adults to seek review urgently if any lumps enlarge quickly, become painful or firmer in texture, or if they develop any neurological symptoms or unexplained pain. Refer for investigation on an urgent basis to confirm or exclude malignant peripheral nervous sheath tumours, which can be subcutaneous or internal. […] Signpost patients to support groups such as Nerve Tumours UK.

• #18 Neurofibromatosis Type 1: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1177266-overview

  […] […] Prompt attention to complications of NF1 and early detection of medical problems may significantly reduce the overall morbidity and mortality rates. […] […] […] Patients and their families may be referred to NF-specific national and regional support groups for continuous updates on treatment advances and for emotional support. […] Inform patients of symptoms that would require immediate medical attention, including headaches increasing in intensity or frequency or focal neurological deficits.

• #19 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

  https://emedicine.medscape.com/article/1177266-treatment

  Hospitalization may be necessary for major surgical procedures and workup of uncontrolled hypertension. […] Many minor surgical procedures (eg, removal of cutaneous neurofibromas) may be done in an outpatient surgical setting. […] For individuals diagnosed with neurofibromatosis type 1 (NF1), routine examinations should focus on the potential complications. […] Annual examinations permit early detection of problems, decreasing morbidity and improving quality of life. […] Annual eye examinations are important in early detection of optic nerve lesions. […] Cutaneous examination performed at each visit should look for new neurofibromas or progression of preexisting lesions. Plexiform neurofibromas may be locally invasive, therefore clinical evaluation should be directed at determining the extent of involvement and detecting evidence of bony erosion or nerve entrapment.

• #20 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

  https://emedicine.medscape.com/article/1177266-treatment

  Blood pressure should be checked at each visit and hypertension treated promptly if detected. […] Symptoms of spinal cord neurofibromas may be subtle and slowly progressive; prompt identification and early surgical intervention allow for optimal outcome. […] Removal of neurofibromas for medical or cosmetic indications is one of the most common procedures on individuals with NF1. […] Surgical resection of neurofibromas can be accomplished, but plastic surgery consultation is advisable for areas of great cosmetic concern such as the face. […] Neurofibromas that press on vital structures, obstruct vision, or grow rapidly deserve immediate attention. […] For many patients, neurofibromas on the scalp, along the hairline, or around the waist where clothes rub can cause great irritation and discomfort. Therefore, removing these should not be considered cosmetic but a necessary medical procedure.

• #21 Neurofibromatosis Type 1 (NF1) | American Cancer Society

  https://www.cancer.org/cancer/risk-prevention/genetics/family-cancer-syndromes/neurofibromatosis-type-1.html

  Neurofibromatosis type 1 (NF1) is a genetic condition where tumors (mostly benign) grow on skin, nerves, and bones. […] There is no cure for NF1 but regular check-ups and treatments can help manage symptoms and complications. […] Monitoring includes: Annual exams with a doctor experienced in NF1, Yearly eye exams (especially for children), Regular blood pressure checks, Developmental evaluations for children. […] Treatment depends on the type and location of the tumor: Watchful waiting: Doctors might monitor tumors that aren’t causing problems. Surgery: Tumors that are causing pressure or pain might need to be removed. However, large plexiform neurofibromas can be harder to remove without affecting nearby nerves. Medicines: Selumetinib (Koselugo) and mirdametinib (Gomekli) are approved to treat NF1 in children ages 2 years and older with symptomatic plexiform neurofibromas that cannot be surgically removed. They are used to slow the tumors growth or shrink it.

• #22 Neurofibromatosis Type 1 | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/genetic-syndromes/neurofibromatosis-type-1.html

  Monitoring and follow-up care for NF1 depend on how severe the disease is, the location of any tumors that may arise, and a persons overall health. […] Care may involve managing symptoms with medicines and surgery to remove any cancerous tissues or tumors. Care may also include other treatments such as chemotherapy to fight any cancers that may develop. Targeted medications known as MEK-inhibitors can act on specific types of NF1. This is a new way of treating many of these tumors with fewer side effects than chemotherapy. […] Because NF1 is a complex condition, parents should discuss screening options for their child with an experienced doctor who knows this condition well. The goal of screening is to find and treat tumors early. Doing so allows the best outcome for patients. There are clinics throughout the country that specialize in taking care of people with NF1.

• #23 Neurofibromatosis Type 1 Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/neurofibromatosis-type-1

  Individuals with NF1 may also develop tumors in other locations, including tumors of the brain and spine. Possible brain tumors include gangliomas, optic gliomas, juvenile pilocytic astrocytomas, and brainstem gliomas. Optic gliomas are the most common. […] At Columbia, our neurosurgeons use the most sophisticated techniques to treat neurofibromas and other tumors that accompany NF1, resulting in the best possible outcomes. […] For neurofibromas and most plexiform neurofibromas, surgery can be performed meticulously to resect the tumor away from the delicate nerve, leaving the nerve intact and function preserved. Some larger plexiform neurofibromas may not be amenable to surgery if their resection would require the removal of nerve tissue and result in loss of nerve function. Instead, radiation therapy, chemotherapy, or both may be used for these large tumors. […] Treatment for brain tumors that are associated with NF1 depends on the characteristics of the tumor and the tumor location. Typically, treatment involves a combination of brain tumor surgery to resect the tumor, and radiation therapy or chemotherapy.

• #24 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

  https://emedicine.medscape.com/article/1177266-treatment

  Acting promptly when neurological symptoms appear is important to maximize operative success. […] Surgical intervention may not guarantee a complete resection of the tumor, but it may serve a palliative function in some cases. […] Orthopedic intervention is indicated for rapidly progressive scoliosis and for some severe bony defects. […] Following patients with NF1 when scoliosis is first detected is advisable, so that nonsurgical approaches may be used in an attempt to obviate the need for a future spinal fusion procedure. […] Patients with long-bone defects are best served by ongoing orthopedic care. […] Some hypertensive patients with renal artery stenosis require surgical resection and repair instead of or following angioplasty.

• #25 When Your Child Has Neurofibromatosis Type 1 (NF1)

  http://library.oumedicine.com/Search/3,40193

  Supportive care. This may include speech, physical, or occupational therapy. […] NF1 is a lifelong condition. But your child can learn ways to manage symptoms and be as active and independent as possible. Regular visits to the healthcare provider are advised to check your child’s health and to do routine testing. In rare cases, tumors become cancer (malignant). If this happens, your child may need other treatments, such as chemotherapy or radiation.

• #26 Self-Care Tips for Young Adults with NF1-PN

  https://www.healthline.com/health/nf1-pn-self-care

  Most NF1-PNs cannot be fully removed with surgery or other treatments. Therefore, its important to take steps to manage the condition and reach out to others for support as you enter adulthood. […] Regular checkups with your healthcare team are important for managing NF1-PN and other symptoms or complications of NF1. […] Let your doctor know if you have concerns about your mental health or if you develop symptoms of a mental health condition, such as: changes to your mood or energy level, frequent feelings of stress, sadness, irritation, anger, or hopelessness, loss of interest in activities you usually enjoy. […] Getting regular exercise is important for overall health and can also help manage specific symptoms of NF1. […] You might find that symptoms or complications of NF1 or PN affect your ability to complete certain tasks or participate in certain activities at school or work. […] If you have NF1-PN, the symptoms and complications you experience may change over time. Learning more about NF1-PN, connecting with a specialist, and getting regular health checkups and recommended health screenings are important for managing your condition.

• #27 Neurofibromatosis: Managing Symptoms | Pasadena, CA

  https://drpanossian.com/blog/neurofibromatosis-managing-symptoms-effective-treatments/

  Tailored exercise plans are designed to meet the unique needs and capacities of individuals with neurofibromatosis. […] Regular monitoring and follow-up are crucial in managing neurofibromatosis. This allows for early detection of new symptoms or changes in existing ones and timely intervention. […] Education plays a pivotal role in managing neurofibromatosis. It is essential for patients and their families to have a comprehensive understanding of this complex medical condition, its potential impact on daily life, and the various treatment options available.

• #28 Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine

  https://www.nature.com/articles/gim201828

  In NF1, malignant peripheral nerve sheath tumor (MPNST), a type of soft-tissue sarcoma, frequently arises from a pre-existing plexiform neurofibroma (PN), a benign, congenital lesion affecting approximately 50% of NF1 patients. […] Women with NF1 have an increased risk of breast cancer, which may present at an earlier age than in the general population. […] The incidence of pheochromocytoma in NF1 is estimated at 0.15.7%; 22% are asymptomatic. […] Hypertension is commonly observed in persons with NF1, and its incidence increases with age. […] Musculoskeletal findings are frequent in NF1; the presence of a distinctive osseous lesion is one of the consensus diagnostic criteria. […] Cutaneous neurofibromas (cNF) can occur on the surface or within the skin. […] Studies have demonstrated an increased prevalence of depression and other psychiatric disorders, with at least one third of adult NF1 patients affected.

• #29 Neurofibromatosis Type 1 (NF1): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14422-neurofibromatosis-type-1-nf1

  Many people also manage the effects of the condition on their mental health by speaking with a mental health professional or joining a support group. […] Your care team can help you find a treatment option that’s right for your situation. You may find comfort in speaking with a mental health professional if your symptoms affect your self-esteem.

• #30 Transition to adult care of young patients with neurofibromatosis type 1 and cognitive deficits: a single-centre study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02356-z

  The transition of adolescents to adult care is known to be challenging. […] This study suggests a need of additional care for patients with NF1 and cognitive deficits including psychiatric disorders during their transition to adult care. […] It seems reasonable to conclude that these challenges may not only affect school and social life, but also make the transition to adult care more difficult. […] Thus, screening to identify those in a need of additional care during transition should be a part of the transition process. […] Our study also highlights the need for better information to the young patient with NF1 on mental challenges and a better education on NF1 disease prognosis and self-management to minimize the risk of discontinuity of care and eventually deterioration in health status of young adults with NF1.

• #31 Care of Individuals with Neurofibromatosis Type 1 Amid an Evolving Paradigm of Therapeutic Development

  https://practicalneurology.com/diseases-diagnoses/neuro-oncology/care-of-individuals-with-neurofibromatosis-type-1-amid-an-evolving-paradigm-of-therapeutic-development/35583/

  Treatment for individuals with neurofibromatosis type 1, a complex disease with variabilities in presentation and disease course, requires a multidisciplinary approach with emphasis on surveillance along with ongoing discussion of therapeutic interventions. […] Individuals with NF1 are recommended to undergo regular comprehensive ophthalmologic examinations, have close follow-up with a dermatologist, and be evaluated for clinical signs of pheochromocytoma with regular blood pressure checks. […] Diagnostic evaluation is tailored to the individual, taking age and clinical manifestations into consideration. […] To facilitate the transition from pediatric to adult care, it is recommended that a standardized process be in place, such as using a defined age cutoff that is discussed ahead of time (most commonly 18 years) and handoff between the pediatric care provider and the primary adult care provider who will be assuming the individuals health care. […] NF1 is a complex, heterogeneous tumor predisposition syndrome that requires multidisciplinary management, close follow-up, consideration of surveillance imaging, and up-to-date knowledge of the ever-changing landscape of treatment options both available and in development for individuals with NF1.

• #32 Care and Management of NF1-PN | NF1-PN HCP

  https://www.nf1pn.com/hcp/management-and-patient-care/

  Given the complex clinical presentation of neurofibromatosis type 1 with plexiform neurofibromas (NF1-PN), a multidisciplinary team (MDT) of treaters may include primary care providers (PCPs), neurologists, oncologists, geneticists, surgeons, neuropsychiatrists, and eye specialists. […] Pediatric patients who are treated in neurofibromatosis (NF) clinics generally have an MDT working together to diagnose, monitor, and treat their NF1-PN. […] If you’re caring for a patient, talk to them about the importance of keeping up with their NF1-PN care as they enter adulthood. Earlier detection of changes in PNs can lead to earlier management. […] Discuss the transition of care early to help patients prepare. […] Work with the patient to discuss practical concerns (eg, travel barriers, insurance).

• #33 Neurofibromatosis type 1 (NF1)

  https://www.nhs.uk/conditions/neurofibromatosis-type-1/

  Children with NF1 should have their eyes checked every year (adults every 2 years). Blood pressure should be checked every year. […] If you have NF1 and are pregnant, you may get problems, such as narrowed arteries and high blood pressure. You may also get more tumours, or your tumours may get bigger and be itchy. […] If you or your child have neurofibromatosis type 1 (NF1), healthcare professionals will be there to support you throughout your treatment.

• #34 Medical care for your child with neurofibromatosis type 1 (NF1)

  https://www.aboutkidshealth.ca/healthaz/genetics/medical-care-for-your-child-with-neurofibromatosis-type-1-nf1/?hub=genetics

  Your child’s doctor will check your teen’s height and weight growth. […] Your child’s doctor will check your teen’s growth for signs of puberty: children with NF1 may have precocious (early) or delayed (late) puberty. […] Your child’s doctor will measure your teen’s blood pressure each year. […] Your child’s doctor will offer to refer your teen to genetic counselling. […] If your teen is a girl, counsel her about how pregnancy will affect NF1: symptoms of NF1 can worsen or increase during pregnancy. […] Your child’s doctor will refer your teen for counselling, specialized medical care or other services as needed. […] Your child’s doctor will help your young adult move to adult medical care.

• #35 Neurofibromatosis type 1 – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/diagnosis-treatment/drc-20350495

  Surgery to remove tumors may be needed to treat serious symptoms or complications of NF1. Symptoms can be relieved by removing all or part of tumors that are compressing nearby tissue or damaging organs. […] Caring for a child with a condition such as neurofibromatosis type 1 (NF1) can be a challenge. But many children with NF1 grow up to live healthy lives with few, if any, complications. […] Find a healthcare professional you can trust and who can coordinate your child’s care with other specialists. […] Your time during your appointment is limited. Preparing a list of questions can help you make the most of your time. List your questions from most important to least important in case time runs out. For neurofibromatosis, some basic questions to ask include: Do you suspect neurofibromatosis type 1? What tests do you recommend? What treatments are available? How should the condition be monitored for changes? […] You’re likely to be asked a number of questions. Being ready to answer them may allow time later to cover other points you want to address.

• #36 Neurofibromatosis type 1 | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/neurofibromatosis-type-1?content_id=CON-20155109

  Contact your healthcare team right away if you notice any changes in symptoms between visits. Many complications of NF1 can be treated effectively if therapy starts early. […] Selumetinib (Koselugo) is a treatment approved by the U.S. Food and Drug Administration for plexiform neurofibroma in children. The medicine can shrink the size of a tumor. […] Surgery to remove tumors may be needed to treat serious symptoms or complications of NF1. Symptoms can be relieved by removing all or part of tumors that are compressing nearby tissue or damaging organs. […] Caring for a child with a condition such as neurofibromatosis type 1 (NF1) can be a challenge. But many children with NF1 grow up to live healthy lives with few, if any, complications. […] Find a healthcare professional you can trust and who can coordinate your child’s care with other specialists. The Children’s Tumor Foundation has an online tool to help you find a specialist in your area. Join a support group for parents who care for children who have NF1, ADHD, special needs or lifelong illnesses. Accept help for daily needs such as cooking, cleaning or caring for your other children or simply to take a needed break. Seek academic support for children who have learning disabilities.

• #37 Medical care for your child with neurofibromatosis type 1 (NF1)

  https://www.aboutkidshealth.ca/healthaz/genetics/medical-care-for-your-child-with-neurofibromatosis-type-1-nf1/?hub=genetics

  A child with neurofibromatosis type 1 must have consistent medical care. […] People with neurofibromatosis type 1 (NF1) should receive regular care and monitoring throughout life. […] Parents should talk to their child’s doctor if they have any concerns about new or concerning symptoms. […] All people with neurofibromatosis type 1 (NF1) should receive regular medical care at every age. […] Many complications of NF1 happen before the age of six, so the health of babies and young children should be watched most closely. […] This page has general guidelines for the care of children with NF1. […] Your child’s doctor will track how your baby grows and develops. […] Your child’s doctor will check your baby’s skin for caf-au-lait spots and neurofibromas. […] Your child’s doctor will check your baby for signs of plexiform (deep) neurofibromas.

• #38 Unmet Needs in the Management of NF1 With PNs

  https://www.onclive.com/view/unmet-needs-in-the-management-of-nf1-with-pns

  One of my primary recommendations for clinicians taking care of adults and children with NF1 is, when possible, to refer to centers where they are treating a large number of these patients and have great familiarity with the available treatments, as well as the various signs and symptoms and management of neurofibromatosis. […] Additionally, a number of guidelines have been recently published. […] For parents of children with NF1, we recommend that they seek out the care of clinicians that are really familiar with NF1 to help guide them through the entire life span of their child and knowing which symptoms to be cognizant of. […] Additionally, I’m always talking with families about the importance of educating themselves about NF1 and the different manifestations of the disorder. […] This is a very exciting time to be involved in the care of people who have neurofibromatosis type 1, and we’re really on the cusp of a totally different world for these patients. […] I also think it will change how parents and families with family members with neurofibromatosis need to be educated about the disorder, so they can let their care providers know about the availability of new treatments, because that may not be generally known amongst clinicians.

• #39 Caring for Adults With Neurofibromatosis Type 1 (Podcast) | Consult QD

  https://consultqd.clevelandclinic.org/caring-for-adults-with-neurofibromatosis-type-1-podcast

  Tailored surveillance and management is needed as patients move into adulthood. NF1 is typically diagnosed in childhood, so patients require long-term management of the condition as they age into adulthood. One such issue is projecting how the disease will impact the patients life over the years. We know these patients have an increased risk of cancer, so we counsel patients about the symptoms to look for. Right now, we operate based on a reactive model, meaning that we dont intervene medically or surgically unless a problem starts to happen. But I believe one day we will switch to a more proactive model where we can intervene at an earlier time point to prevent complications, or event prevent tumors from happening or reverse the course of the disease. […] The disease can be quite variable in how it presents, even within the same family. A number of questions arise as a result: How do we know which patients need more frequent screening? What is the best screening tool, and when is the time to intervene? […] If we know a specific mutation can predict more aggressive disease, then we tailor the screening and the surveillance differently for those patients.

• #40 Adult Neurofibromatosis Type 1 (NF1) and Schwannomatosis Clinic | UCSF Health

  https://www.ucsfhealth.org/clinics/adult-neurofibromatosis-type-1-schwannomatosis

  The UCSF Adult Neurofibromatosis Type 1 (NF1) and Schwannomatosis Clinic brings together specialists with expertise in treating all kinds of NF1 and schwannomatosis, including neurofibromatosis type 2. Our mission is to provide lifelong care for patients with these complex genetic conditions, which cause noncancerous tumors to form in the nervous system. […] The Children’s Tumor Foundation has recognized us as an NF1 and schwannomatosis comprehensive care center for patients with these conditions. […] We provide access to clinical trials (studies of promising new therapies) and are part of the Neurofibromatosis Clinical Trials Consortium, a collaboration among clinical centers that share the goal of improving treatments through clinical trials. […] Connect with a team that can help you find resources, solve problems and advocate for you during treatment at UCSF.

• #41 Neurofibromatosis Type 1 | Penn State Health

  https://www.pennstatehealth.org/childrens/services-treatments/neurofibromatosis-type-1

  Penn State Health has the only neurofibromatosis clinic in central Pennsylvania, serving patients in a 100 mile radius. […] We are supported by the Neurofibromatosis Clinic Network and offer comprehensive neurofibromatosis services through our various subspecialists, covering very aspect of neurofibromatosis care. […] Our experts are committed to developing safer, more effective therapies that help reverse the course of neurofibromatosis, including NF1 and NF2. […] Through clinical trials at Penn State College of Medicine, your child has access to new treatments that are only available in select programs worldwide.

• #42

  https://www.archivesofmedicalscience.com/Coordinated-medical-care-for-children-with-neurofibromatosis-type-1-and-related-RASopathies,108441,0,2.html

  Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patients oriented longitudinal care. […] Medical practice proved that not only patient-oriented complex but also coordinated care provided in centers of competence is indispensable for patients and the families and provides a sense of medical security to them in conjunction with public health costs rationalization. […] The mainstay of NF-1 management is patients oriented, both multispecialty and coordinated care, comprising age-specific monitoring of disease manifestations and comorbidities treatment as well as patient education, which requires a diversified attitude towards children at different ages, continuously supervised by the NF coordinator. The coordinator is responsible for the patients directed, holistic management providing a sense of medical security to the patient and family. Such a system of care ended the socalled diagnostic odyssey of the patients family, hopelessly searching for proper and professional medical advice.

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