Gastrointestinal Symptoms in Children and Adolescents With Neurofibromatosis Type 1

Ejerskov, Cecilie; Krogh, Klaus; Østergaard, John R.; Joensson, Iben Moeller; Haagerup, Annette

doi:10.1097/mpg.0000000000001860

Cited by 6 publications

(3 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Gastrointestinal symptoms are not functional in neurofibromatosis type 1 (NF1), "but they may be part of the underlying NF1 disorder" [75], while the autosomal dominant optic atrophy may present gastrointestinal dismotility and constipation [30], implying possible effects on drug absorption.…”

Section: Problematic Generic Substitutionsmentioning

confidence: 99%

Generic Substitution of Orphan Drugs for the Treatment of Rare Diseases: Exploring the Potential Challenges

Paolo

Arrigoni

2018

Drugs

View full text Add to dashboard Cite

Generic drugs are important components of measures introduced by healthcare regulatory authorities to reduce treatment costs. In most patients and conditions the switch from a branded drug to its generic counterpart is performed with no major complications. However, evidence from complex diseases suggests that generic substitution requires careful evaluation in some settings and that current bioequivalence criteria may not always be adequate for establishing the interchangeability of branded and generic products. Rare diseases, also called orphan diseases, are a group of heterogeneous diseases that share important characteristics: in addition to their scarcity, most are severe, chronic, highly debilitating, and often present in early childhood. Finding a treatment for a rare disease is challenging. Thanks to incentives that encourage research and development programs in rare diseases, several orphan drugs are currently available. The elevated cost of orphan drugs is a highly debated issue and a cause of limited access to treatment for many patients. As patent protection and the exclusivity period of several orphan drugs will expire soon, generic versions of orphan drugs should reach the market shortly, with great expectations about their impact on the economic burden of rare diseases. However, consistent with other complex diseases, generic substitution may require thoughtful considerations and may be even contraindicated in some rare conditions. This article provides an overview of rare disease characteristics, reviews reports of problematic generic substitution, and discusses why generic substitution of orphan drugs may be challenging and should be undertaken carefully in rare disease patients.

show abstract

Section: Problematic Generic Substitutionsmentioning

confidence: 99%

Generic Substitution of Orphan Drugs for the Treatment of Rare Diseases: Exploring the Potential Challenges

Paolo

Arrigoni

2018

Drugs

View full text Add to dashboard Cite

show abstract

“…The anthropometric characteristics most often found in NF1 individuals include a high prevalence of low weight, short stature, macrocrania, reduced muscle mass, and lower body mass index 7,8,9 . Vitamin D deficiency or insufficiency, low bone mineral density, reduced muscle strength, and intestinal constipation have also been described and may be associated with an inadequate diet 6,10,11,12 .…”

Section: Introductionmentioning

confidence: 99%

Dietary patterns of Brazilian adults with neurofibromatosis type 1

et al. 2020

View full text Add to dashboard Cite

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease characterized by multisystem involvement such as bone, muscle, endocrine, ophthalmologic, cardiovascular, central and peripheral nervous system, cognitive capacity, voice, and oral motor disorders. Nutritional studies in individuals with NF1 have been performed recently. While a previous study showed an inadequate nutrient intake in patients with NF1, the dietary patterns of this population have not yet been widely studied. This study aimed to characterize dietary patterns in Brazilian adults with NF1. Sixty NF1 individuals (51.7% women), ≥18 years of age underwent nutritional assessment including laboratory analysis, anthropometrics, and eating habits recorded on a food frequency questionnaire. Cluster analysis was used to distinguish between dietary patterns. Hypothesis tests were used to compare data. Two groups with distinct patterns were identified, "Healthy" (46.7%) and "Western" (53.3%). These groups were similar in most of the socioeconomic, anthropometric, demographic and laboratory parameters evaluated. However, the upper-arm total area and upperarm muscle area (UAMA) were lower in the Western group than those in the Healthy group [59.8 (25.7) cm² versus 65.6 (28.3) cm², P=0.049; 35.6±12.4 cm² versus 43.8±15.0 cm², P=0.024, respectively]. In this study, most individuals with NF1 had a Western dietary pattern and this group showed a lower UAMA, which may indicate a potential contribution, even in part, of diet in the muscle phenotype in this population. This association between diet and muscle in NF1 individuals requires investigation in further studies.

show abstract

“…Skeletal issues may include osseous lesions and malformations, pseudoarthrosis affecting the tibia, sphenoid wing dysplasia, scoliosis, kyphosis, short stature, and osteoporosis. Gastrointestinal manifestations such as irritable bowel syndrome, constipation, dyspepsia, occur in 15-30% of NF1 patients, 14,15 and women with NF1 have a 4-8x higher risk of breast cancer in the under 50 population. The risk of endocrine disorders is not documented in the NF1 population, but it can involve short stature and failure to thrive, growth hormone deficiency or excess can be attributed to intracranial tumors affecting the pituitary, as can central precocious puberty, whereas delayed menarche, tumors, while not common, can occur in NF1 as well.…”

mentioning

confidence: 99%

Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach

Lalvani,

Brown

2024

JMDH

View full text Add to dashboard Cite

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. NF1 is a tumor predisposition syndrome that primarily affect the peripheral and central nervous systems via the impact of haploinsufficiency upon neural crest lineage cells including Schwann cells, melanocytes, fibroblasts, etc. NF1 can further lead to pathology of the skin, bones, visual system, and cardiovascular system, all of which can drastically reduce a patient's quality of life (QOL). This review provides a comprehensive examination of the many specialties required for the care of patients with Neurofibromatosis Type 1 (NF1). We delve into the pathogenesis and clinical presentation of NF1, highlighting its diverse manifestations and the challenges they pose in management. 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. This review highlights the need for further investigation to optimize the workflow for NF1 patients in an MDT setting, and to improve implementation and efficacy.

show abstract

Gastrointestinal Symptoms in Children and Adolescents With Neurofibromatosis Type 1

Cited by 6 publications

References 21 publications

Generic Substitution of Orphan Drugs for the Treatment of Rare Diseases: Exploring the Potential Challenges

Generic Substitution of Orphan Drugs for the Treatment of Rare Diseases: Exploring the Potential Challenges

Dietary patterns of Brazilian adults with neurofibromatosis type 1

Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach

Contact Info

Product

Resources

About