Skip to content
How It Works
Explore
Resources Ask a Question
Who It's For
Patients
Decode results, prep for appointments, weigh options.
Caregivers & advocates
Carry the research load for someone you love.
Providers & clinicians
Resources for patients in your practice.
Log In Ask a Question
PubMed This is a summary of 35 peer-reviewed journal articles Updated
Genetics · Kyphoscoliotic Ehlers-Danlos Syndrome

Understanding the kEDS-PLOD1 Diagnosis: The Basics

At a Glance

kEDS-PLOD1 is a rare genetic condition caused by a PLOD1 gene mutation that weakens collagen stability throughout the body. It causes symptoms like a curved spine and flexible joints, but can be accurately diagnosed with a urine test and safely managed by a multidisciplinary care team.

Receiving a diagnosis of Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS) can feel overwhelming and isolating. It is a very rare condition—so rare that specific global birth rates are difficult to track, though it is one of the less common forms of the Ehlers-Danlos syndromes [1][2]. Please know that your feelings of shock or grief are valid. You have just been given a name for a complex journey, and having that name is the first step toward specialized, proactive care.

What is kEDS-PLOD1?

kEDS-PLOD1 is a genetic condition that changes how the body builds collagen, the primary “glue” or “scaffolding” that holds our tissues together [1][3].

Specifically, this condition is caused by a change (mutation) in the PLOD1 gene. This gene is responsible for making an enzyme called lysyl hydroxylase 1 (LH1) [3][1].

  • The Enzyme’s Job: Normally, LH1 helps prepare collagen fibers so they can “crosslink” or bond together tightly.
  • The Deficiency: In kEDS-PLOD1, there is a deficiency of this enzyme. Without enough LH1, the collagen fibers cannot crosslink properly [3][2].
  • The Result: The collagen is weaker and less stable than it should be. This leads to the symptoms seen in kEDS, such as very flexible joints, soft skin, and a curved spine (scoliosis or kyphosis) [1][4]. For more detail on how symptoms present, see Symptoms and Misdiagnosis.

How is it Inherited?

kEDS-PLOD1 is an autosomal recessive condition [1][5]. This means that for someone to have the condition, they must inherit one changed copy of the PLOD1 gene from each parent. The parents are usually “carriers”—they have one changed copy and one healthy copy, so they typically do not show any symptoms of the condition themselves. You may want to pursue genetic counseling to discuss family planning and carrier testing for future pregnancies [1].

Three Stabilizing Facts for Your Family

While the diagnosis is serious, these three facts can help ground you as you begin to navigate care:

01

Biology and Testing: How kEDS-PLOD1 is Formally Diagnosed

Learn how kEDS-PLOD1 is diagnosed. Understand the biology of collagen crosslinking, the LP/HP urine test, and how to read your genetic testing report.

02

Long-Term Monitoring and Living with kEDS-PLOD1

Learn how to manage daily life with kEDS-PLOD1. Discover long-term monitoring guidelines for the spine, eyes, and heart, plus tips for school accommodations.

03

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

Learn how to build an expert care team for kEDS-PLOD1. Understand standard surveillance protocols for spine, vascular, and eye health, plus safety precautions.

Key Features to Monitor

Because kEDS-PLOD1 affects collagen throughout the body, doctors focus on a few key areas:

  • The Spine: Many children are born with hypotonia (low muscle tone) and may develop kyphoscoliosis (a curve in the spine) early in life [1][10].
  • The Eyes: Patients may have fragility in the “white” of the eye or the cornea, which requires monitoring by a specialized ophthalmologist [4][11].
  • The Blood Vessels: Because collagen supports blood vessel walls, regular monitoring is often recommended to look for any changes in the arteries [2][12].

This diagnosis is a marathon, not a sprint. Taking it one day at a time, with the right team of experts, is the best way to move forward.

Common questions in this guide

What is kEDS-PLOD1?
kEDS-PLOD1 is a rare genetic disorder that changes how your body builds collagen. It is caused by a mutation in the PLOD1 gene, which creates a deficiency in an enzyme needed to make collagen strong and stable.
How is kyphoscoliotic EDS inherited?
The condition is autosomal recessive, which means a child must inherit one changed copy of the PLOD1 gene from each parent to develop the disorder. The parents are usually carriers who do not experience any symptoms themselves.
How do doctors test for kEDS-PLOD1?
Along with genetic testing, doctors can confirm the diagnosis using a simple urine test. This test measures the LP/HP ratio, a specific biomarker of collagen breakdown, making it a highly accurate diagnostic tool.
What doctors do I need to see for kyphoscoliotic EDS?
Because collagen is found throughout the body, care requires a team-based approach. Your team will likely include specialists in genetics, orthopedics for spinal care, cardiology for blood vessel health, and ophthalmology for specialized eye care.
What is anticipatory planning for kEDS?
Anticipatory planning involves taking proactive steps to protect your health before problems occur. Knowing your diagnosis early allows your doctors to perform baseline imaging of your blood vessels and eyes to set up protective measures against future injuries.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Which specific PLOD1 gene mutations were identified in the genetic report?
  2. 2.Can we perform the urinary LP/HP ratio test to provide further biochemical confirmation of the diagnosis?
  3. 3.Is there a local or regional multidisciplinary EDS clinic where we can coordinate care between genetics, orthopedics, and ophthalmology?
  4. 4.What is our immediate plan for baseline imaging (like an MRA or Echocardiogram) to check for vascular health?
  5. 5.Should we arrange a genetic counseling session to discuss family planning and what this means for other family members?

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 (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

    Biochemical characterization of collagen I in Warmblood Fragile Foal Syndrome horse lysyl hydroxylase 1 mutation.

    Ishikawa Y, Tufa SF, Keene DR, et al.

    microPublication biology 2025; (2025()) doi:10.17912/micropub.biology.001399.

    PMID: 39839713
  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

    Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing.

    Shin YL, Park YN, Jang MA

    Journal of Korean medical science 2020; (35(10)):e96 doi:10.3346/jkms.2020.35.e96.

    PMID: 32174067
  6. 6

    A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.

    Conti R, Zanchi C, Barbi E

    Italian journal of pediatrics 2021; (47(1)):28 doi:10.1186/s13052-021-00984-y.

    PMID: 33579342
  7. 7

    LC-MS/MS application for urine free pyridinoline and free deoxypyridinoline: Urine markers of collagen and bone degradation.

    Tang JCY, Dutton JJ, Piec I, et al.

    Clinical mass spectrometry (Del Mar, Calif.) 2016; (1()):11-18 doi:10.1016/j.clinms.2016.08.001.

    PMID: 39193423
  8. 8

    Obstetrics and gynecology in Ehlers-Danlos syndrome: A brief review and update.

    Blagowidow N

    American journal of medical genetics. Part C, Seminars in medical genetics 2021; (187(4)):593-598 doi:10.1002/ajmg.c.31945.

    PMID: 34773390
  9. 9

    '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
  10. 10

    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
  11. 11

    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
  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 explains the basics of a kEDS-PLOD1 diagnosis for educational purposes only. Always consult your genetics and multidisciplinary care team for specific medical management and family planning advice.

Get notified when new evidence is published on Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.