ArticleCase study: A minimally invasive approach to the treatment of Klippel-Trenaunay syndrome
Section snippets
Background
Klippel-Trenaunay syndrome (KTS) is a congenital developmental disorder first described in 1900 by French physicians Klippel and Trenaunay. Their findings were reported after having observed two patients with a triad of symptoms: port wine stain, venous abnormalities, and soft tissue and bony hypertrophy involving a unilateral extremity.1, 2, 3, 4
In 1907, unaware of the syndrome described by Klippel and Trenaunay, Drs. Parkes and Weber described a similar syndrome that included the
Pathophysiology
The exact cause of KTS is unknown. A popular theory is that of Moodie et al.,7 who suggest that KTS is caused by mesodermal abnormality during fetal development. This leads to the maintenance of microscopic arteriovenous communications in the limb bud resulting in the associated symptomatology.
The triad of symptoms used to diagnose KTS are capillary malformation (port wine stain), varicose veins, venous malformations, and soft tissue and bony hypertrophy8 (Table I). Only 63% of patients
Diagnosis
A thorough history and physical examination are mandatory and should include pain assessment.2 All symptomatology should be documented and investigated. Assessment should continue to take place at regular intervals to focus on the prevention of potential complications that could possibly be averted.7 Because complications of KTS may include hypercoagulability, thrombosis, and pulmonary embolism, patients should be questioned carefully regarding associated symptoms and complete coagulation
Treatment
Treatment varies with the extent of the disease and the severity of the symptoms.8 However, the time-honored recommended treatment of KTS is conservative, using surgery only as a last resort.2, 10, 19, 21
The port wine stain, the most common cutaneous finding in KTS, is found overlaying a capillary or lymphatic bed. This area gives rise to increased vascularity, a thin fragile overlying dermis and epidermis that can lead to ulceration and bleeding.7 Ulcerations require meticulous wound care and
Case study
A 16-year-old girl presented with a newly diagnosed condition of KTS affecting the right lower extremity. She was born with a port wine stain, affecting both the thigh and calf, that was incorrectly diagnosed as arteriovenous malformation (Figure 3).
As she grew, the cutaneous discoloration and varicosities became progressively worse and disabling. The port wine stain increased in size covering much of her leg and was painful, especially with exercise or excessive standing. She was prescribed
Conclusion
KTS is a rare and devastating congenital anomaly for which there is no cure, only conservative, symptomatic treatment. Surgical intervention is avoided because of the high rate of complications and the ultimate reoccurrence of symptoms that are sometimes worse than what the patient initially experienced.
Our team has realized two important aspects of our patient population with KTS. First and most important, in mild cases of KTS the deep venous system is generally not absent or underdeveloped as
Nursing implications
It takes a multidisciplined approach with a coordinated effort to effectively care for patients with KTS. Despite all of the specialists involved, a common theme among our patients with KTS was the absence of a primary care provider. Most patients related that primary care providers verbalized a lack of confidence in managing their health needs because of a poor understanding of KTS and its effect on multiple body systems. Possibly because of the rarity of the condition, the patients struggled
References (27)
- et al.
Klippel-Trenaunay syndrome: its spectrum and management
Mayo Clin Proc
(1998) SIR 2005 Annual Meeting Film Panel Case: Klippel-Trenaunay Syndrome
Journal of Vascular and Interventional Radiology
(2005)- et al.
Hemangiomas and vascular malformations of infancy and childhood
Pediatr Clin North Am
(1993) - et al.
Surgical treatment of venous malformations in Klippel-Trenaunay syndrome
J Vasc Surg
(2000 Nov) - et al.
The use of ultrasound in the venous assessment of lower limb Klippel-Trenaunay syndrome
Eur J Radiol
(1994) - et al.
Endovenous obliteration versus conventional stripping operation in the treatment of primary varicose veins: a randomized controlled trial with comparison of the costs
J Vasc Surg
(2002 May) - et al.
Du noevus variquex oste-hypertrophic
Arch Gen Med
(1900) - et al.
Klippel-Trenaunay-Weber Syndrome
Arch Dermatol
(2003) - Tonsgard JH. Klippel-Trenaunay-Weber Syndrome; e-medicine 4.2006. Available at:...
Angioma formation in connection with hypertrophy of limbs and hemihypertrophy
Br J Dermatol
(1907)
Vascular malformations
Anals Brasilerios de Dermatologia
Klippel Trenaunay SyndromePeripheral Vascular Disease in Children
The Klippel-Trenaunay Syndrome
J Bone & Joint Surg (Br)
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Options in the treatment of superficial and deep venous disease in patients with Klippel-Trenaunay syndrome
2022, Journal of Vascular Surgery: Venous and Lymphatic DisordersCitation Excerpt :Anxiety and depression are common for patients with KTS.31 The psychosocial aspects of the disease can affect the patient’s self-esteem and social interactions.32 Using the 20-item chronic venous disease quality of life questionnaire, we demonstrated significant improvements in the pain and psychological domains among patients with KTS after intervention.
Port-wine stains of the limbs
2011, Annales de Dermatologie et de VenereologieKlippel-Trenaunay syndrome
2010, Presse MedicaleSelf-stigma and psychosocial burden of patients with port-wine stain: A systematic review and meta-analysis
2021, Journal of Cosmetic DermatologyQuality of life and psychological effects of port-wine stain: A review of literature
2021, Clinical, Cosmetic and Investigational DermatologyEmotional Burden and Coping Strategies of Parents of Children with Rare Diseases
2015, Journal of Child and Family Studies