Klippel-Trenaunay syndrome
Klippel-Trenaunay syndrome (KTS) is a rare congenital condition characterized by a triad of symptoms: hemangiomas (or vascular malformations), limb or soft tissue hypertrophy, and varicose veins. Often presenting with additional features such as port-wine stains and localized tumors, the syndrome affects various systems, including the circulatory, gastrointestinal, and lymphatic systems. The exact cause of KTS remains unknown, though it is believed to be linked to genetic factors or abnormalities that occur early in embryonic development. Symptoms typically manifest at birth and may lead to complications such as excessive bleeding.
Individuals with KTS may experience a lifelong impact on their health, with treatment options aimed at alleviating symptoms rather than curing the condition. Common management strategies include the use of compression garments, surgical interventions for limb hypertrophy, and anticoagulant therapy to minimize the risk of embolisms. Due to its sporadic nature, early diagnosis can be challenging, and ongoing monitoring is crucial for managing potential complications. As research continues into the underlying molecular mechanisms of KTS, there is hope for better understanding and treatment options in the future.
Klippel-Trenaunay syndrome
ALSO KNOWN AS: Angio-osteohypertrophy, nevus vasculosus osteohypertrophicus syndrome, hemangiectasia hypertrophicans, Klippel-Trenaunay-Weber syndrome
ANATOMY OR SYSTEM AFFECTED: Blood vessels, circulatory system, gastrointestinal system, joints, lymphatic system
DEFINITION: A rare congenital syndrome characterized by hemangiomas of the vascular system that can affect bone or soft tissue throughout the body
CAUSES: Unknown, possibly genetic
SYMPTOMS: Varicose veins, port-wine stains, limb or soft tissue hypertrophy, noticeable large vein running from lower leg into upper thigh, localized tumors, excessive bleeding
DURATION: Lifelong
TREATMENTS: Allevation of symptoms, such as compression garments and leg elevation for varicose veins, surgery for limb hypertrophy, anticoagulants
Causes and Symptoms
Klippel-Trenaunay syndrome was first described in 1900 in patients exhibiting a combination of varicose veins, multiple nevi (birthmarks on the skin sometimes called port-wine stains), and excessive growth or development (hypertrophy) of limbs or soft tissue. Increased vascularity is common. At birth, a large vein may be observed running from the lower leg into the upper thigh, referred to as the Klippel-Trenaunay vein.
The molecular basis for the disease is unclear, as most cases appear as simply random occurrences. Among those few cases which appear to be heritable, it is believed that an may be at fault, possibly linked to chromosome numbers 5 or 11. Evidence suggests that, at the molecular level, deregulation of methylation of imprinted genes may play a role.
Whichever gene may be at fault, it is believed the occurs early in embryonic development. The result is that the defect appears randomly among cells as they migrate and differentiate early during embryonic stages, resulting in the seemingly haphazard distribution of the trait as the develops.
Diagnosis is based upon the triad of vascular or soft tissue defects, with venous or capillary malformations leading to localized, and often extensive, tumors. Preliminary diagnosis can be based upon any two of the characteristics. Another symptom may be excessive bleeding, especially from the or detected in the urine.
Treatment and Therapy
If the disorder becomes apparent during the prenatal period, then the is generally poor. Treatment in the adult is generally symptomatic, although the possibility of internal organ involvement, as well as embolisms, leaves the patient at risk even in the absence of symptoms.
Since varicose are generally apparent, the patient may wear compression garments, elevating the legs at intervals. Surgery may be necessary to correct limb hypertrophy. Because the formation of embolisms is a risk, the patient may utilize anticoagulants prophylactically, particularly prior to surgery. Corticosteroid use may help limit swelling in some cases. In the absence of significant malformations, the patient should simply be monitored on an annual basis.
Perspective and Prospects
The rare and sporadic nature of the disorder complicates routine screening. At best, proper prenatal care during may result in diagnosis if the disorder does appear. Research into the molecular basis of the disorder may eventually determine its origins.
Bibliography:
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"Klippel-Trenaunay Syndrome." National Organization for Rare Diseases (NORD), 6 June 2023, rarediseases.org/rare-diseases/klippel-trenaunay-syndrome/. Accessed 3 Aug. 2023.
MedlinePlus. "Klippel-Trenaunay Syndrome." MedlinePlus, 1 Nov. 2021, medlineplus.gov/ency/article/000150.htm. Accessed 2 Apr. 2024.
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Telander, R. L., et al. “Prognosis and Management of Lesions of the Trunk in Children with Klippel-Trenaunay Syndrome.” Journal of Pediatric Surgery 19 (1984): 417–22.