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PubMed This is a summary of 21 peer-reviewed journal articles Updated
Genetics

How to Transition a Child With Fabry to Adult Care

At a Glance

Transitioning a teen with Fabry disease to adult medical care requires starting early (ages 13-15). The goal is to gradually teach the young adult to manage their own treatments, coordinate with specialty pharmacies, and communicate with a new multidisciplinary medical team.

In this answer

3 sections

01

Shifting Responsibility to Your Teen

02

Building the Adult Care Team

03

Creating a Formal Medical Handover

Transitioning from a pediatric care team to adult medical care is a critical milestone for a young person with Fabry disease. Consistent, uninterrupted care is the best way to protect your child’s organs and maintain their quality of life. This transition is often considered a vulnerable period where young adults can accidentally fall out of care, which could allow symptoms to progress [1][2]. A successful transition requires gradually shifting the responsibility of care from the parent to the young adult, finding specialists knowledgeable about rare metabolic disorders [3], navigating insurance changes, and ensuring a meticulous handover of medical records.

Shifting Responsibility to Your Teen

Preparing for adult care should begin long before the final pediatric appointment, ideally starting in their early teens (around ages 13 to 15). The goal is to move smoothly from parent-managed care to patient-led management.

  • Gradual Independence: Encourage your teen to answer the doctor’s questions directly during appointments. As they get older, they should start taking the lead on scheduling their enzyme replacement therapy (ERT) (a treatment that provides the missing enzyme) or taking their oral chaperone therapy [4][5].
  • Insurance and Pharmacy Logistics: Fabry therapies are often high-cost specialty medications. Administrative lapses during the transition to adult insurance can cause dangerous treatment interruptions. Teach your teen how to proactively coordinate with their specialty pharmacy and health insurance to prevent missed doses.
  • Symptom Tracking: Teach them how to monitor and report their own symptoms, such as pain or gastrointestinal issues, which are common in adults with Fabry disease [6]. Note that symptom progression can vary significantly depending on whether the patient is male or female, with females often experiencing a more variable range of symptoms [7][8].
  • Mental Health Awareness: Transitioning to adulthood with a chronic condition can be stressful. Standardized assessments, including depression screening, should become a routine part of their care [9][10].

Building the Adult Care Team

One of the biggest hurdles during this transition is the shortage of specialized adult centers for inborn errors of metabolism [3].

  • Identify Specialists Early: Work with your pediatric team to identify adult providers who understand the complexities of Fabry disease.
  • A Multidisciplinary Approach: Because Fabry affects the whole body, the adult care team must be multidisciplinary. It typically requires an expert in genetics or metabolic diseases acting as the “quarterback,” alongside a cardiologist to monitor the heart [11][12], a nephrologist for kidney function [13], and a neurologist for nerve pain and stroke risk [14].
  • Reproductive Health: As teens transition to adulthood, establishing care with a genetic counselor is crucial. They need to understand the X-linked inheritance pattern of Fabry disease in the context of their own future family planning [15].

Creating a Formal Medical Handover

To maintain seamless care and optimize treatment decisions, the new adult team needs a comprehensive understanding of your child’s medical history [16]. Ensure the following are formally transferred:

  • Genetic Reports: A copy of the original genetic testing that confirms their specific GLA gene mutation (the genetic change causing their Fabry disease) [15].
  • Lyso-Gb3 Trends: A record of their past and current Lyso-Gb3 levels (a biomarker in the blood used to monitor how well treatments like ERT or migalastat are working) [17][18]. This helps the adult team know what is “normal” for your teen.
  • Baseline Organ Assessments: Copies of advanced imaging, such as cardiovascular magnetic resonance (CMR) and echocardiography [19][11], as well as early markers of kidney function [20]. This provides the adult team with a baseline to track any future changes in heart mass, wall thickness, or kidney health [21].
  • Treatment History: Details of their treatment history, including whether they have developed any anti-agalsidase antibodies (proteins the immune system makes that can interfere with ERT) [17].

Common questions in this guide

At what age should I start preparing my child with Fabry disease for adult medical care?
Preparation for adult care should ideally begin in the early teens, around ages 13 to 15. This allows plenty of time to gradually shift the responsibility of managing appointments, symptom tracking, and therapy coordination from the parent to the young adult.
Which specialists should be on an adult Fabry disease care team?
An adult Fabry care team requires a multidisciplinary approach because the disease affects the whole body. The team typically includes a metabolic specialist or geneticist acting as the main coordinator, a cardiologist for heart health, a nephrologist for kidney function, and a neurologist for nerve pain.
What medical records are needed when moving to an adult Fabry specialist?
You should prepare a comprehensive file that includes the original genetic testing confirming the specific GLA mutation and historical Lyso-Gb3 biomarker levels. You should also transfer baseline organ imaging, like heart and kidney scans, and a complete treatment history detailing any anti-agalsidase antibodies.
Why is transitioning to adult Fabry care considered a high-risk period?
This transition is considered vulnerable because young adults can accidentally fall out of care or experience lapses in insurance coverage. These administrative interruptions can cause dangerous delays in receiving high-cost treatments like enzyme replacement therapy, which allows Fabry symptoms to progress.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Can you recommend an adult metabolic specialist or geneticist who has experience specifically with treating Fabry disease?
  2. 2.What specific records, baseline organ scans, and Lyso-Gb3 trends should we compile into a 'medical passport' before our last pediatric visit?
  3. 3.At what age should my child start seeing the adult specialists, and is it possible to have an overlap period where both care teams are involved?
  4. 4.How can we best prepare my child to independently manage their specialty pharmacy coordination and insurance requirements as an adult?
  5. 5.At what age should we introduce my child to a genetic counselor to discuss family planning and the hereditary aspects of Fabry disease?

Questions For You

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Related questions

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References

References (21)
  1. 1

    Stroke and Chronic Kidney Disease in Fabry Disease.

    Tapia D, Kimonis V

    Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2021; (30(9)):105423 doi:10.1016/j.jstrokecerebrovasdis.2020.105423.

    PMID: 33160817
  2. 2

    Fabry disease in cardiology practice: Literature review and expert point of view.

    Hagège A, Réant P, Habib G, et al.

    Archives of cardiovascular diseases 2019; (112(4)):278-287 doi:10.1016/j.acvd.2019.01.002.

    PMID: 30826269
  3. 3

    The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

    Tchan M, Lehman A, van Dussen L, et al.

    Journal of inherited metabolic disease 2025; (48(2)):e70005 doi:10.1002/jimd.70005.

    PMID: 39912519
  4. 4

    Therapeutic advances in Fabry disease: The future awaits.

    Kant S, Atta MG

    Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2020; (131()):110779 doi:10.1016/j.biopha.2020.110779.

    PMID: 33152937
  5. 5

    Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond.

    Nowicki M, Bazan-Socha S, Kłopotowski M, et al.

    International journal of environmental research and public health 2021; (18(16)) doi:10.3390/ijerph18168242.

    PMID: 34443990
  6. 6

    Gastrointestinal symptoms in adults with Fabry disease and their associations with physical and mental health.

    Weedon-Fekjær MS, Pihlstrøm HK, Weedon-Fekjær H, et al.

    BMC gastroenterology 2025; (25(1)):819 doi:10.1186/s12876-025-04439-0.

    PMID: 41257599
  7. 7

    Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease.

    El Sayed M, Hirsch A, Boekholdt M, et al.

    Heart (British Cardiac Society) 2021; (107(23)):1889-1897 doi:10.1136/heartjnl-2020-317922.

    PMID: 33568430
  8. 8

    Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation.

    Selthofer-Relatic K

    Case reports in cardiology 2018; (2018()):6131083 doi:10.1155/2018/6131083.

    PMID: 29755794
  9. 9

    Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients.

    Rosa Neto NS, Bento JCB, Pereira RMR

    Molecular genetics and metabolism reports 2020; (22()):100547 doi:10.1016/j.ymgmr.2019.100547.

    PMID: 31871893
  10. 10

    Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.

    Pihlstrøm HK, Weedon-Fekjær MS, Bjerkely BL, et al.

    JIMD reports 2021; (62(1)):56-69 doi:10.1002/jmd2.12240.

    PMID: 34765399
  11. 11

    Cardiac Involvement in Fabry Disease and the Role of Multimodality Imaging in Diagnosis and Disease Monitoring.

    Umer M, Motwani M, Jefferies JL, et al.

    Current problems in cardiology 2023; (48(1)):101439 doi:10.1016/j.cpcardiol.2022.101439.

    PMID: 36202174
  12. 12

    Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future.

    Esposito R, Santoro C, Mandoli GE, et al.

    Journal of clinical medicine 2021; (10(9)) doi:10.3390/jcm10091994.

    PMID: 34066467
  13. 13

    Renal involvement in Fabry disease.

    Abensur H, Reis MA

    Jornal brasileiro de nefrologia 2016; (38(2)):245-54.

    PMID: 27438980
  14. 14

    Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.

    Leslie AC, Jarnes J, Ahmed A, et al.

    JIMD reports 2025; (66(1)):e12466 doi:10.1002/jmd2.12466.

    PMID: 39822326
  15. 15

    Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.

    Pan Y, Sniderman King L, Vengoechea E, et al.

    Molecular genetics and metabolism 2025; (145(1)):109082 doi:10.1016/j.ymgme.2025.109082.

    PMID: 40138980
  16. 16

    Precision medicine in Fabry disease.

    Lenders M, Brand E

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2021; (36(Suppl 2)):14-23 doi:10.1093/ndt/gfab038.

    PMID: 34153986
  17. 17

    Fabry Disease Nephropathy: Compendium of "in vitro" and "in vivo" Renal Effects of Globotriaosylsphingosine.

    Jaurretche SPA, Del Rosal MV, Brajkovic ML, et al.

    Kidney & blood pressure research 2025; (50(1)):811-819 doi:10.1159/000547144.

    PMID: 41234045
  18. 18

    Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report.

    Tanaka K, Sugiyama H, Morinaga H, et al.

    Frontiers in medicine 2024; (11()):1383309 doi:10.3389/fmed.2024.1383309.

    PMID: 38903807
  19. 19

    Phenotypic Diversity on Cardiac Magnetic Resonance in a Han Family With Fabry Disease.

    Li J, Wang J, Chen Y

    CJC open 2025; (7(6)):736-739 doi:10.1016/j.cjco.2025.03.017.

    PMID: 40586025
  20. 20

    Podocyturia in Fabry disease.

    Pereira EM, Silva AS, Labilloy A, et al.

    Jornal brasileiro de nefrologia 2016; (38(1)):49-53.

    PMID: 27049364
  21. 21

    Effects of Enzyme Replacement Therapy on Cardiac MRI Findings in Fabry Disease: A Systematic Review and Meta-Analysis.

    Figliozzi S, Kollia E, Simistiras A, et al.

    Radiology. Cardiothoracic imaging 2024; (6(3)):e230154 doi:10.1148/ryct.230154.

    PMID: 38842453

This page provides educational information about transitioning a pediatric Fabry disease patient to adult care. It does not replace professional medical advice, and you should always consult your current healthcare team for personalized transition planning.

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