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PubMed This is a summary of 12 peer-reviewed journal articles Updated
Clinical Genetics · Kyphoscoliotic Ehlers-Danlos syndrome

Building Your Expert Team: Care and Management of kEDS-PLOD1

At a Glance

Managing kEDS-PLOD1 requires a multidisciplinary medical team including a geneticist, orthopedic surgeon, cardiologist, ophthalmologist, and physical therapist. Consistent surveillance is vital to monitor spine curvature, vascular aneurysms, and fragile eye tissues safely.

Because kEDS-PLOD1 affects multiple systems in the body, your care cannot be managed by a single doctor. You are essentially building a “board of directors” for your health. Each specialist plays a role in monitoring the unique risks associated with collagen fragility. Review Long-Term Monitoring for an overview of scan schedules.

Your Expert Care Team

A standard care team for kEDS-PLOD1 typically includes these core specialists [1][2][3]:

  • Clinical Geneticist: The “quarterback” who confirms the diagnosis and coordinates with other specialists [1].
  • Orthopedic Surgeon: Monitors the spine for kyphoscoliosis and manages joint dislocations [1][4].
  • Cardiologist/Vascular Specialist: Screens for aneurysms (bulges) or dissections (tears) in the blood vessels [2][5].
  • Ophthalmologist: Monitors for corneal thinning or keratoglobus to prevent eye injury [6][7].
  • Physical Therapist (PT): Focuses on strengthening the muscles around the joints to improve stability, using a “low-resistance” approach [8][3].

Standard Surveillance Protocols

While there is no one-size-fits-all schedule, experts generally recommend the following “standard of care” checks [2][9][1]:

System Primary Concern Common Surveillance
Spine Progressive curvature Regular physical exams and X-rays as needed to monitor the curve [1][4].
Vascular Arterial rupture/aneurysm Periodic monitoring is vital. MRA (Magnetic Resonance Angiography) or ultrasound is strongly preferred for routine monitoring, especially in children, to minimize lifetime radiation exposure. CTA (Computed Tomography Angiography) may be used during emergencies [2][10].
Eyes Brittle cornea Annual (or more frequent) exams to check corneal thickness and eye pressure [6].
Nutrition Collagen support Doctors may prescribe a strict, age- and weight-appropriate dosage of Vitamin C to support enzyme function. High doses must be monitored closely, as they can cause severe gastrointestinal distress and kidney stones [1].

Vetting Your Specialists

When meeting a new doctor, it is crucial to ensure they understand the specific risks of kEDS-PLOD1, which are different from more common EDS types.

  • Ask about tissue fragility: “How will you adjust your surgical or stitching technique to account for the fact that tissues may tear easily?” [11][2].
  • Ask about vascular awareness: “Do you realize that kEDS-PLOD1 carries a risk of spontaneous arterial rupture similar to vascular EDS?” [2][12].
  • Ask your Physical Therapist: “How do you adjust your methods to build stability without overextending joints or using high resistance?” [8].

Your Essential “Medical Briefcase”

In a rare disease journey, you are the keeper of the data. Ensure you have digital and physical copies of the following [1][3]:

  1. Genetic Testing Report: Showing the specific PLOD1 mutations.
  2. Biochemical Urine Report: Showing the LP/HP (fDPD/fPYD) ratio.
  3. Baseline Vascular Imaging: CD/digital access to the most recent MRA or ultrasound scans.
  4. Emergency Protocol: A one-page letter from your geneticist explaining the risk of vascular and ocular rupture for ER doctors.
  5. Anesthesia and Intubation Precautions: Spine curvature and tissue fragility can make airway management and anesthesia risky. Keep records of specialized precautions needed for surgery [11].
  6. Surgical Notes: If any procedures have been done, keep the notes on how the tissue responded and what stitches were used.

Safety and Activity

To protect fragile tissues, standard advice often includes wearing polycarbonate (shatterproof) lenses for eye protection and avoiding contact sports or heavy lifting that puts excessive strain on the arteries and spine [6][3]. Physical activity should focus on maintaining muscle tone without overextending the joints [8].

Common questions in this guide

Which doctors should be on a kEDS-PLOD1 care team?
A standard care team should include a clinical geneticist to coordinate care, alongside an orthopedic surgeon, a cardiologist or vascular specialist, an ophthalmologist, and a physical therapist. This multidisciplinary approach ensures all potentially affected body systems are monitored.
How often should vascular screening be done for kEDS-PLOD1?
Periodic vascular monitoring is essential because of the risk of arterial ruptures or aneurysms. Doctors strongly prefer using Magnetic Resonance Angiography (MRA) or ultrasound for routine checks to minimize lifetime radiation exposure, especially for children.
Is it safe to take Vitamin C for kEDS-PLOD1?
Doctors often prescribe an age- and weight-appropriate dosage of Vitamin C to help support collagen enzyme function. It is important to strictly follow the prescribed dose, as excessively high amounts can lead to severe gastrointestinal distress and kidney stones.
What precautions should be taken for eye health with kEDS-PLOD1?
Patients should undergo annual exams to monitor for corneal thinning and a condition called keratoglobus. To protect against injury, doctors often recommend wearing shatterproof polycarbonate lenses and avoiding high-impact activities.
Are there specific risks for kEDS-PLOD1 patients during surgery?
Yes, surgery presents unique challenges such as extreme tissue fragility, poor wound healing, and potential airway difficulties due to spine curvature. Surgeons and anesthesiologists must be informed beforehand to adjust their stitching techniques and airway management plans.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How many other patients with kEDS-PLOD1 (not just general EDS) have you treated in your practice?
  2. 2.Are you familiar with the increased risk of vascular rupture in this specific subtype, and how does that change your approach to surgery or procedures?
  3. 3.What is the appropriate, safe dosage of Vitamin C for my specific case to avoid kidney stones?
  4. 4.If surgery is needed, do you have a plan for managing tissue fragility, poor wound healing, and airway risks?
  5. 5.Who on your team is our main point of contact if we suspect a vascular or ocular emergency?

Questions For You

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References

References (12)
  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

    Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.

    Kobets AJ, Komlos D, Houten JK

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018; (34(7)):1411-1415 doi:10.1007/s00381-018-3750-9.

    PMID: 29450629
  5. 5

    Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.

    Bhandari A, Siu V, Duncan AA

    Journal of vascular surgery cases and innovative techniques 2024; (10(3)):101465 doi:10.1016/j.jvscit.2024.101465.

    PMID: 38694482
  6. 6

    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
  7. 7

    Successful repair of a spontaneous scleral rupture in a patient with type VI Ehlers-Danlos syndrome.

    Lozada R, Amaral C, Alvarez-Falcón S, et al.

    American journal of ophthalmology case reports 2020; (20()):100961 doi:10.1016/j.ajoc.2020.100961.

    PMID: 33102932
  8. 8

    A review of respiratory manifestations and their management in Ehlers-Danlos syndromes and hypermobility spectrum disorders.

    Chohan K, Mittal N, McGillis L, et al.

    Chronic respiratory disease 2021; (18()):14799731211025313 doi:10.1177/14799731211025313.

    PMID: 34291699
  9. 9

    Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome.

    Henneton P, Legrand A, Giunta C, Frank M

    BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-224423.

    PMID: 29982180
  10. 10

    Temporal Pattern Analysis of Ultrasound Surveillance Data in Vascular Connective Tissue Disorders.

    Walter C, Leinweber ME, Mlekusch I, et al.

    Diagnostics (Basel, Switzerland) 2024; (14(16)) doi:10.3390/diagnostics14161749.

    PMID: 39202237
  11. 11

    Endovascular treatment of a ruptured aortic pseudoaneurysm and its complications in an 8-year-old child with Ehlers-Danlos syndrome type VI.

    Kahraman Ü, Akhundova M, Çınar C, Ertugay S

    Interdisciplinary cardiovascular and thoracic surgery 2023; (37(6)) doi:10.1093/icvts/ivad197.

    PMID: 38123519
  12. 12

    Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

    Quade A, Wiesmann M, Weis J, et al.

    Pediatric neurology 2017; (74()):92-96 doi:10.1016/j.pediatrneurol.2017.05.017.

    PMID: 28739362

This page provides educational information on managing kEDS-PLOD1 and does not replace professional medical advice. Always consult your clinical geneticist or care team to develop a personalized treatment and surveillance plan.

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