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PubMed This is a summary of 15 peer-reviewed journal articles Updated
Orthopedics · Kyphoscoliotic Ehlers-Danlos syndrome (kEDS-PLOD1)

Long-Term Monitoring and Living with kEDS-PLOD1

At a Glance

Living with kEDS-PLOD1 requires lifelong monitoring of the spine, blood vessels, and eyes. While avoiding contact sports and heavy lifting is essential, patients can maintain a high quality of life through non-impact exercise, tailored school accommodations, and a proactive medical team.

Living with kEDS-PLOD1 is a journey of vigilant balance. While the condition requires life-long monitoring to manage risks to the spine, eyes, and blood vessels, the goal of care is to maximize quality of life and independence. Make sure you have discussed Building Your Expert Team with your doctors.

Long-Term Monitoring Framework

Because every person with kEDS-PLOD1 is different, your medical team will create a tailored surveillance schedule. While fixed international protocols are still evolving, experts generally follow these patterns [1][2][3]:

Life Stage Orthopedic (Spine) Vascular (Arteries) Ocular (Eyes)
Infancy/Early Childhood Frequent monitoring (every 3–6 months) for progressive kyphoscoliosis [1]. Baseline MRA (to minimize radiation) and Echocardiogram (an ultrasound of the heart) to establish a vascular “map” [2]. Comprehensive baseline exam; monitor for corneal thinning [4].
School Age X-rays as needed to monitor “Cobb angles” (curve severity); focus on bracing [1]. Periodic MRA/ultrasound (e.g., every 1–3 years) depending on initial findings. CTA is reserved for emergencies [2]. Annual or biannual exams; emphasize protective eyewear [4].
Adolescence/Adulthood Focus on managing joint stability and preventing further spinal progression [5]. Lifelong monitoring of the aorta and intracranial (brain) arteries [2]. Continued monitoring for late-onset cataracts or corneal changes [4].

Managing “Scanxiety”

The psychological toll of chronic monitoring—often called scanxiety—is a real and documented burden for families with rare diseases [6][7]. This is the heightened distress that occurs in the days leading up to a scan and the agonizing wait for results [6][8].

  • Professional Support: Consider asking your care team to connect you with a Pediatric Medical Social Worker or Child Life Specialist. They are specifically trained to help children and families cope with frequent hospital visits and imaging [9].
  • Minimizing the Wait: Ask your medical team if results can be released through a patient portal immediately or if you can schedule the follow-up appointment for the same day as the scan [9][6].
  • Focus on Modifiable Factors: You cannot control the scan result, but you can control the environment. Planning a “reward” activity after the appointment or practicing mindfulness can help lower the baseline of distress [10][11].

Daily Activity and School Life

Living safely with kEDS-PLOD1 involves modifying activities to protect fragile tissues without stopping movement altogether.

  1. Exercise: Regular activity is encouraged to strengthen the muscles that support the joints, but it must be non-impact [12][5]. Swimming, cycling, and specialized physical therapy are often preferred over running or jumping [5].
  2. Safety Restrictions: To prevent vascular rupture or eye injury, patients should avoid contact sports (like football or wrestling), heavy lifting, and activities with a high risk of abdominal trauma [13][4][3].
  3. School Accommodations: A 504 Plan or IEP can help ensure the following:
    • Adaptive/Modified Physical Education (PE) to ensure non-impact exercise guidelines are strictly followed.
    • A second set of books to avoid carrying a heavy backpack.
    • Extra time for hall transitions to avoid being bumped.
    • Permission to wear protective (polycarbonate) lenses during recess [4].

Quality of Life

Research shows that quality of life in kEDS-PLOD1 is best maintained through a proactive, multidisciplinary approach [2][3]. By identifying and managing complications early, families can focus on development, social life, and emotional well-being rather than just the medical diagnosis [14][15]. Connecting with rare disease communities can also reduce the loneliness that often accompanies a rare diagnosis [6].

Common questions in this guide

How often do I need vascular imaging with kEDS-PLOD1?
Vascular monitoring frequency is tailored to your specific case. Typically, a baseline MRA and echocardiogram are done in early childhood, followed by periodic scans every one to three years depending on the initial results.
What are the best types of exercise for someone with kEDS-PLOD1?
Regular, non-impact exercises like swimming or cycling are highly recommended to strengthen the muscles that support your joints. Contact sports, heavy lifting, and activities with a high risk of impact must be completely avoided to prevent serious injury.
What accommodations should my child have at school for kEDS-PLOD1?
Schools can provide necessary protections through a 504 Plan or IEP. Common accommodations include adaptive physical education, providing a second set of textbooks to prevent heavy lifting, and allowing extra time for hallway transitions.
What is scanxiety and how can we manage it?
Scanxiety is the psychological distress that occurs before a medical scan and while waiting for the results. You can manage it by connecting with a child life specialist, asking your doctor for same-day results, and planning a rewarding activity after the appointment.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Based on current clinical status, what specific frequency of vascular imaging (MRA or ultrasound) do you recommend?
  2. 2.Are there certain physical milestones or changes in the spine's curvature that should trigger an earlier orthopedic visit?
  3. 3.How do you coordinate with our school to ensure they understand the balance between encouraging activity and enforcing safety restrictions?
  4. 4.Can we schedule a 'results follow-up' appointment at the same time as the scan to minimize the wait time and anxiety?
  5. 5.What is your threshold for considering surgical intervention versus bracing for the spinal curve?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (15)
  1. 1

    Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

    van Dijk FS, Mancini GMS, Maugeri A, Cobben JM

    European journal of medical genetics 2017; (60(10)):536-540 doi:10.1016/j.ejmg.2017.07.011.

    PMID: 28757364
  2. 2

    A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report.

    Foy M, Métay C, Frank M, et al.

    Clinical case reports 2023; (11(2)):e6760 doi:10.1002/ccr3.6760.

    PMID: 36860721
  3. 3

    'Pediatric Ehlers-Danlos syndrome VI with retroperitoneal Hemorrhage: case report and management strategy'.

    Yunus A, Khan M, Jamali AA, Kazi G

    Oxford medical case reports 2025; (2025(7)):omaf119 doi:10.1093/omcr/omaf119.

    PMID: 40718530
  4. 4

    Cataract surgery complications in a patient with brittle cornea syndrome and Ehlers-Danlos syndrome type six: A case report.

    Maurino V, Aiello F, Matarazzo F

    American journal of ophthalmology case reports 2024; (36()):102120 doi:10.1016/j.ajoc.2024.102120.

    PMID: 39139206
  5. 5

    Spinal manifestations of Ehlers-Danlos syndrome: a scoping review.

    Marathe N, Lohkamp LN, Fehlings MG

    Journal of neurosurgery. Spine 2022; (37(6)):783-793 doi:10.3171/2022.6.SPINE211011.

    PMID: 35986728
  6. 6

    Scanxiety among Adults with Cancer: A Scoping Review to Guide Research and Interventions.

    Derry-Vick HM, Heathcote LC, Glesby N, et al.

    Cancers 2023; (15(5)) doi:10.3390/cancers15051381.

    PMID: 36900174
  7. 7

    Scanxiety: a scoping review about scan-associated anxiety.

    Bui KT, Liang R, Kiely BE, et al.

    BMJ open 2021; (11(5)):e043215 doi:10.1136/bmjopen-2020-043215.

    PMID: 34039571
  8. 8

    The patient perspective in the era of personalized medicine: What about scanxiety?

    Custers JAE, Davis L, Messiou C, et al.

    Cancer medicine 2021; (10(9)):2943-2945 doi:10.1002/cam4.3889.

    PMID: 33837668
  9. 9

    Prevalence, severity, and modifiable predictors of scanxiety in patients undergoing routine oncologic imaging: a prospective longitudinal study.

    Shah MS, Memon JA, Malik U, et al.

    Clinical imaging 2025; (128()):110634 doi:10.1016/j.clinimag.2025.110634.

    PMID: 41077027
  10. 10

    "You Always Worry": Scan-Related Anxiety Among Patients With Metastatic Lung Cancer.

    Derry-Vick H, Prigerson HG, Hahne J, et al.

    Journal of the American College of Radiology : JACR 2025; (22(12)):1572-1577 doi:10.1016/j.jacr.2025.08.021.

    PMID: 41338711
  11. 11

    Scanxiety Conversations on Twitter: Observational Study.

    Bui KT, Li Z, Dhillon HM, et al.

    JMIR cancer 2023; (9()):e43609 doi:10.2196/43609.

    PMID: 37074770
  12. 12

    Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of patient experiences with physical activity.

    Johansen H, Velvin G, Lidal I

    Disability and rehabilitation 2022; (44(10)):1968-1975 doi:10.1080/09638288.2020.1815874.

    PMID: 32915071
  13. 13

    Blunt aortic trauma in a patient with the Ehlers-Danlos syndrome type VI.

    Yung MY, Murray J, Thompson EC

    Journal of surgical case reports 2016; (2016(3)).

    PMID: 26956239
  14. 14

    Exploring the lived experiences of women with metastatic breast cancer and their HRQoL questionnaire preferences: a qualitative study.

    Tolstrup LK, Vogsen M, Hildebrandt MG, et al.

    Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2026; (35(2)):32.

    PMID: 41511649
  15. 15

    Scanxiety and quality of life around follow-up imaging in patients with unruptured intracranial aneurysms: a prospective cohort study.

    Kamphuis MJ, van der Kamp LT, van Eijk RPA, et al.

    European radiology 2024; (34(9)):6018-6025 doi:10.1007/s00330-024-10602-0.

    PMID: 38311702

This page provides general guidelines for living with and monitoring kEDS-PLOD1. It is for informational purposes only and does not replace personalized guidance from your multidisciplinary medical team.

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