Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1

ContextNeurofibromatosis type 1 (NF1) is a complex system disorder, caused by alterations in RAS pathways. NF1 adults often suffer from chronic and severe fatigue, for which they are frequently referred to Internal Medicine/Endocrinology. Seeking medical help often leads to (invasive) diagnostic pro...

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Main Authors: Anna G. W. Rosenberg, Ké Mochèl, Lorena M. Hähner, Lara Ruules, Kirsten Davidse, Anja G. Bos-Roubos, Sarah A. van Dijk, M. Carola Zillikens, Walter Taal, Aart J. van der Lely, Laura C. G. de Graaff
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Endocrinology
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Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1119159/full
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author Anna G. W. Rosenberg
Ké Mochèl
Lorena M. Hähner
Lara Ruules
Kirsten Davidse
Anja G. Bos-Roubos
Sarah A. van Dijk
Sarah A. van Dijk
M. Carola Zillikens
M. Carola Zillikens
M. Carola Zillikens
M. Carola Zillikens
Walter Taal
Walter Taal
Aart J. van der Lely
Aart J. van der Lely
Laura C. G. de Graaff
Laura C. G. de Graaff
Laura C. G. de Graaff
author_facet Anna G. W. Rosenberg
Ké Mochèl
Lorena M. Hähner
Lara Ruules
Kirsten Davidse
Anja G. Bos-Roubos
Sarah A. van Dijk
Sarah A. van Dijk
M. Carola Zillikens
M. Carola Zillikens
M. Carola Zillikens
M. Carola Zillikens
Walter Taal
Walter Taal
Aart J. van der Lely
Aart J. van der Lely
Laura C. G. de Graaff
Laura C. G. de Graaff
Laura C. G. de Graaff
author_sort Anna G. W. Rosenberg
collection DOAJ
description ContextNeurofibromatosis type 1 (NF1) is a complex system disorder, caused by alterations in RAS pathways. NF1 adults often suffer from chronic and severe fatigue, for which they are frequently referred to Internal Medicine/Endocrinology. Seeking medical help often leads to (invasive) diagnostic procedures. To prevent the personal and financial burden of this disabling fatigue, it is crucial to know the causes.ObjectiveTo explore somatic causes and provide practical recommendations for the approach to fatigue in adults with NF1.DesignCross-sectional. All adults with NF1 (N = 133) who visited our Endocrinology department underwent a systematic health screening, including a medical questionnaire, structured interview, complete physical examination, biochemical measurements and additional tests if indicated.Main outcome measurePrevalence of endocrine and non-endocrine health problems between NF1 adults with and without fatigue.ResultsIn our cohort, 75% of NF1 adults experienced fatigue. The most frequent endocrine disorders were vitamin D deficiency (28%), obesity (18%) and hypothyroidism (8%). The most frequent non-endocrine internal disorder was high blood pressure (42%). None of the disorders differed significantly between adults with and without fatigue.ConclusionsEndocrine and non-endocrine disorders were equally present in our cohort of NF1 adults with and without fatigue. This suggests that the high prevalence of fatigue in NF1 adults is not explained by these somatic disorders. An alternative explanation for fatigue might be deficits in cognitive functioning and other neuropsychological processes in NF1. Based on our results and review of the literature, we provide a clinical algorithm for the approach to fatigue in NF1 adults, including somatic and psychological assessment.
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spelling doaj.art-c905e2f7b0944724b698c3897f0731592024-03-15T04:24:40ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922024-03-011410.3389/fendo.2023.11191591119159Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1Anna G. W. Rosenberg0Ké Mochèl1Lorena M. Hähner2Lara Ruules3Kirsten Davidse4Anja G. Bos-Roubos5Sarah A. van Dijk6Sarah A. van Dijk7M. Carola Zillikens8M. Carola Zillikens9M. Carola Zillikens10M. Carola Zillikens11Walter Taal12Walter Taal13Aart J. van der Lely14Aart J. van der Lely15Laura C. G. de Graaff16Laura C. G. de Graaff17Laura C. G. de Graaff18Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, NetherlandsDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, NetherlandsDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, NetherlandsDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, NetherlandsDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, NetherlandsCenter of Excellence for Neuropsychiatry, Vincent van Gogh, Venray, NetherlandsDepartment of Neurology/Neuro-Oncology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, NetherlandsENCORE-Dutch Center of Reference for Neurodevelopmental Disorders, Rotterdam, NetherlandsDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, NetherlandsERN BOND, European Reference Network for Rare Bone Diseases, Rotterdam, NetherlandsENDO-ERN, European Reference Network on Rare Endocrine Conditions, Rotterdam, NetherlandsAcademic Centre for Rare Bone Disorders, Erasmus MC, University Medical Center, Rotterdam, NetherlandsDepartment of Neurology/Neuro-Oncology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, NetherlandsENCORE-Dutch Center of Reference for Neurodevelopmental Disorders, Rotterdam, NetherlandsDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, NetherlandsENDO-ERN, European Reference Network on Rare Endocrine Conditions, Rotterdam, NetherlandsDepartment of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, NetherlandsENCORE-Dutch Center of Reference for Neurodevelopmental Disorders, Rotterdam, NetherlandsENDO-ERN, European Reference Network on Rare Endocrine Conditions, Rotterdam, NetherlandsContextNeurofibromatosis type 1 (NF1) is a complex system disorder, caused by alterations in RAS pathways. NF1 adults often suffer from chronic and severe fatigue, for which they are frequently referred to Internal Medicine/Endocrinology. Seeking medical help often leads to (invasive) diagnostic procedures. To prevent the personal and financial burden of this disabling fatigue, it is crucial to know the causes.ObjectiveTo explore somatic causes and provide practical recommendations for the approach to fatigue in adults with NF1.DesignCross-sectional. All adults with NF1 (N = 133) who visited our Endocrinology department underwent a systematic health screening, including a medical questionnaire, structured interview, complete physical examination, biochemical measurements and additional tests if indicated.Main outcome measurePrevalence of endocrine and non-endocrine health problems between NF1 adults with and without fatigue.ResultsIn our cohort, 75% of NF1 adults experienced fatigue. The most frequent endocrine disorders were vitamin D deficiency (28%), obesity (18%) and hypothyroidism (8%). The most frequent non-endocrine internal disorder was high blood pressure (42%). None of the disorders differed significantly between adults with and without fatigue.ConclusionsEndocrine and non-endocrine disorders were equally present in our cohort of NF1 adults with and without fatigue. This suggests that the high prevalence of fatigue in NF1 adults is not explained by these somatic disorders. An alternative explanation for fatigue might be deficits in cognitive functioning and other neuropsychological processes in NF1. Based on our results and review of the literature, we provide a clinical algorithm for the approach to fatigue in NF1 adults, including somatic and psychological assessment.https://www.frontiersin.org/articles/10.3389/fendo.2023.1119159/fullNeurofibromatosis type 1 (NF1)fatigueadultinternal medicineendocrinology
spellingShingle Anna G. W. Rosenberg
Ké Mochèl
Lorena M. Hähner
Lara Ruules
Kirsten Davidse
Anja G. Bos-Roubos
Sarah A. van Dijk
Sarah A. van Dijk
M. Carola Zillikens
M. Carola Zillikens
M. Carola Zillikens
M. Carola Zillikens
Walter Taal
Walter Taal
Aart J. van der Lely
Aart J. van der Lely
Laura C. G. de Graaff
Laura C. G. de Graaff
Laura C. G. de Graaff
Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1
Frontiers in Endocrinology
Neurofibromatosis type 1 (NF1)
fatigue
adult
internal medicine
endocrinology
title Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1
title_full Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1
title_fullStr Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1
title_full_unstemmed Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1
title_short Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1
title_sort endocrine and non endocrine causes of fatigue in adults with neurofibromatosis type 1
topic Neurofibromatosis type 1 (NF1)
fatigue
adult
internal medicine
endocrinology
url https://www.frontiersin.org/articles/10.3389/fendo.2023.1119159/full
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