Developmental anomalies Congenital vascular bone syndromes
Klippel-Trénaunay Syndrome (KTS)
Rare Disease Classifications:
IMPORTANT INFORMATION
The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.
Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.
There are currently no known organisations in Australia specifically for this rare disease. If you know of any rare disease organisation/s supporting people living with Klippel-Trénaunay syndrome (KTS), please let us know via the Contribute page. If you are interested in starting an Australian organisation for people living with KTS, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.
If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.
Quick Page Search:
Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Personal Stories | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research and Data | Rare Disease Organisation(s) | Support Services/Resources | Mental Health | Other | References
Emergency Management
There may be special considerations for the emergency management of individuals living with Klippel-Trénaunay syndrome (KTS) presenting to emergency departments.
OrphanAnesthesia has Anaesthesia recommendations for patients suffering From Klippel-Trénaunay syndrome, please note that this was last modified in 2017 and may not be up to date.
Clinical Care Guidelines
We are not aware of any clinical care guidelines for Klippel-Trénaunay syndrome (KTS) in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.
The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:
- Klippel-Trenaunay Syndrome Management Guidelines is available on the K-T Support Group (United States); it is ‘developed by a team of vascular anomalists at the Boston Children’s Hospital as a booklet of management guidelines to assist physicians and patients’; please note this was published in 2016.
- OrphanAnesthesia has Anaesthesia recommendations for patients suffering From Klippel-Trénaunay syndrome, please note that this was last modified in 2017 and may not be up to date.
Synonyms
KT syndrome, angio-osteohypertrophy syndrome, CLMV (Capillary, Lymphatic, Venous Malformations).
Please note that Klippel-Trénaunay syndrome and Parkes Weber syndrome were previously both referred to as Klippel-Trénaunay-Weber syndrome; however, Klippel-Trénaunay syndrome and Parkes Weber syndrome are now classified as two separate conditions.1
Summary
Klippel-Trénaunay syndrome (KTS) is a genetic condition in which capillaries, veins and lymph vessels do not form properly (malformation). These malformations are present from birth (congenital) and can worsen over time. KTS is characterised by overgrowth of an affected limb involving bones and/or soft tissue, and specific vascular malformations resulting in skin discolouration sometimes called a ‘port wine stain’ as well as twisted and swollen veins (varicosities) that often bulge out from the skin.2,3 KTS usually affects one leg only, but in rare cases can involve arms, the head, trunk, or multiple areas. Overgrowth of the affected limb often stops when other limbs stop growing.
Klippel-Trenaunay syndrome was historically used to refer to a wider group of vascular anomalies with overgrowth; however, this has been recognised to be inaccurate and KTS is now restricted to abnormalities in the capillaries, veins and lymph vessels with overgrowth.1,3
Useful Links for Professionals
Children’s Health Queensland: Klippel-Trenaunay syndrome
GeneReviews®: PIK3CA-Related Overgrowth Spectrum
Online Mendelian Inheritance in Man (OMIM): #149000, Klippel-Trenaunay Syndrome
Orphanet: Klippel-Trénaunay syndrome
International Society for the Study of Vascular Anomalies (ISSVA): ISSVA Classification of Vascular Anomalies was approved at the 20th ISSVA Workshop in Melbourne in April 2014 and last reviewed in May 2018.
Personal Stories
Klippel-Trenaunay syndrome (KTS) varies between individuals, and each person’s experience is unique.
Personal Story shared with Rare Voices Australia: Bridie’s Story
If you would like to share your personal story with Rare Voices Australia and have it included on the RARE Portal, please visit Rare Voices Australia: Share Your Story.
Symptoms
The symptoms of Klippel-Trenaunay syndrome (KTS) vary between individuals but generally include:2-4
- Unusual growth rate and swelling of the affected limb/s (bone and soft tissue hypertrophy, lymphoedema). Usually, the affected limb is longer and/or wider than the unaffected limb;however, in rare cases it can be smaller. The size difference between limbs varies greatly between individuals. Swelling can increase and become painful when the limb is in use
- Birth marks (cutaneous haemangioma) or other areas of discoloured skin which may be painful and begin to ooze clear fluid (lymph) and/or develop black spots with age.
- Bumpy or twisted veins causing a raised and discoloured area on the skin (varicose veins). These may become swollen, sore, and more visible with age
- The foot opposite the affected limb often becomes swollen and accumulates fat
KTS can coexist with a wide range of other skeletal and skin abnormalities.3 Common complications include chronic pain, blood clotting disorders (coagulopathies), blood clots in the arteries or veins (thrombosis), blood clots that affect the lungs (pulmonary embolisms), and internal bleeding.2,3
Please speak to your medical team to learn more about the symptoms and complications of KTS.
Cause/Inheritance
Klippel-Trenaunay syndrome (KTS) is one of many conditions associated with a genetic change in the PIK3CA gene.2,5,6 These conditions are collectively known as the PIK3CA-related overgrowth spectrum (PROS) and have many overlapping features. In KTS, the genetic change in PIK3CA occurs randomly (de novo) before birth but is not in all cells of the body (genetic mosaicism).6 As the genetic change is somatic (not in germ cells such as sperm or eggs cells), it is not passed on to the next generation (heritable).
More information on genetic mosaicism can be found at NSW Government Health: Centre for Genetics Education – Mosaicism.
If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found on the National Services page and specific State and Territory Services pages on the RARE Portal.
Diagnosis
Klippel-Trenaunay syndrome (KTS) may be diagnosed based on a physical examination of the signs and symptoms. Imaging scans, such as computed axial tomography (CAT) and magnetic resonance imaging (MRI), and colour doppler studies (ultrasound), may be performed to identify and assess the extent of malformations and to guide treatment.2
Genetic testing for PIK3CA somatic mosaicism (in which not all the cells in the body have a PIK3CA genetic change) may be performed; however, not all individuals may have a detectable PIK3CA mutation.5
Differential diagnosis (to rule out other condition) includes Parkes-Weber syndrome, CLOVES syndrome, other PIK3CA-related overgrowth spectrum (PROS) syndromes, PTEN-related overgrowth disorders, Proteus syndrome and DCMO syndrome.4,5
Please speak to your medical team to learn more about the available diagnostic pathways for KTS.
Treatment
There is no curative treatment for Klippel-Trenaunay syndrome (KTS), but there are strategies to manage the symptoms.4 These strategies may involve a multidisciplinary medical team.
Management strategies may include compression therapy to minimise swelling and reduce overgrowth.4 Compression stockings, bandages or custom-made compression garments may be worn for life, or only through significant periods of growth, depending on an individual’s requirements. Specialised (orthopaedic) shoes or shoe inserts may be used to manage uneven leg length, and physiotherapy or occupational therapy may be used to improve mobility.
Sclerotherapy, radiofrequency ablation or similar interventions may be able to remove some swollen veins, which can reduce the risk of some complications and may also improve the cosmetic appearance.7 Laser treatment may be used to lighten birthmarks and port wine stains.
In severe cases surgical intervention may be used to restrict growth of the affected limb, remove excessive tissue or swollen veins.3 It is important to note that there may be special considerations for individuals with KTS requiring general anaesthetic.8
The management of KTS may also involve monitoring for signs of blood clots and in some cases, blood thinning medication may be given to prevent complications from blood clots.2
Clinical Care
Healthcare professionals involved in the treatment of Klippel-Trenaunay syndrome (KTS) may include general practitioners (GP), paediatricians, geneticists, dermatologists, physiotherapists, occupational therapists, lymphoedema therapists, interventional radiologists, and orthopaedic specialists.9 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.
Research and Data
Please visit Australian Clinical Trials to learn about clinical trials for Klippel-Trenaunay syndrome (KTS) in Australia; there may not be any clinical trials currently available.
Information regarding clinical trials for KTS in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.
It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.
Rare Disease Organisation(s)
There are currently no known organisations for Klippel-Trenaunay syndrome (KTS) in Australia. If you are aware of any KTS organisations in Australia, please let us know via the Contribute page.
International organisations
KT-Support Group (United States)
Website: https://k-t.org/
Contact form: https://k-t.org/about-us/contact
K-T support group strive to connect families, adults with K-T, and professionals with information and opportunities to learn from each other.
Global organisations
The Vascular Birthmarks Foundation
Website: https://birthmark.org/birthmark/klippel-trenaunay-syndrome/
Contact form: https://birthmark.org/contact/
An international charitable organisation that networks families affected by a vascular birthmark, anomaly, or related syndrome to the appropriate medical professionals for evaluation and/or treatment, educates physicians and affected families regarding treatment options, supports relevant research, mobilizes medical missions, and empowers those living with vascular birthmarks.
Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.
Support Services/Resources
For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.
Mental Health
Please visit the ‘Mental Health’ sections listed on the National and State Services pages.
Other
Further information on Klippel-Trenaunay syndrome (KTS) can be found at:
References
- International Society for the Study of Vascular Anomalies. ISSVA Classification for Vascular Anomalies. Published 2014, 2018. Accessed 2 September 2024. https://www.issva.org/classification
- National Organization for Rare Disorders. Klippel-Trenaunay Syndrome. Published 1987-2023. Updated 6 June 2023. Accessed 2 September 2024. https://rarediseases.org/rare-diseases/klippel-trenaunay-syndrome/.
- K-T Support Group. About K-T. 2024. Updated 29 April 2021. Accessed 2 September 2024. https://k-t.org/about-kt/what-is-kts
- Children’s Health Queensland. Klippel-Trenaunay syndrome. Published October 2018. Accessed 2 September 2024. https://www.childrens.health.qld.gov.au/health-a-to-z/klippel-trenaunay-syndrome
- Klippel-Trénaunay syndrome. Orphanet. 2024. Updated January 2024. Accessed 2 Septmber 2024. https://www.orpha.net/en/disease/detail/90308.
- Harnarayan P, Harnanan D. The Klippel-Trénaunay Syndrome in 2022: Unravelling Its Genetic and Molecular Profile and Its Link to the Limb Overgrowth Syndromes. Vasc. Health Risk Manag. 2022;18:201-9. https://doi.org/10.2147/VHRM.S358849
- Wang SK, Drucker NA, Gupta AK, Marshalleck FE, Dalsing MC. Diagnosis and management of the venous malformations of Klippel-Trenaunay syndrome. J. Vasc. Surg. Venous Lymphat. Disord. 2017;5(4):587-95. https://doi.org/10.1016/j.jvsv.2016.10.084
- George S E. Anaesthesia recommendations for patients suffering from Klippel-Trénaunay Syndrome. Germany; 2017. 6p. https://www.orphananesthesia.eu/en/rare-diseases/published-guidelines/klippel-trénaunay-syndrome/307-klippel-trénaunay-syndrome/file.html
- K-T Support Group. Management Overview. Updated 17 August 2016. Acessed 23 October 2024 https://k-t.org/about-kt/what-is-kts
Page Last Updated
28/10/2024 01:58
