4 free views remaining today
Klippel-Trenaunay syndrome
ICD-10 Codes
Related ICD-10:
Description
Klippel-Trenaunay Syndrome: A Rare Congenital Vascular Disorder
Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder that affects the development of blood vessels, soft tissues, and bones. The condition is characterized by three main features:
- Port-wine stain birthmark: A capillary malformation that appears as a red or purple birthmark on the skin, often the first sign of KTS.
- Abnormal vein malformations: Varicose veins, lymphatic anomalies, and other vascular abnormalities that can lead to complications such as blood clots and pulmonary embolism.
- Soft tissue and bone overgrowth: Excessive growth of soft tissues and bones in the affected limb, which can cause limb length discrepancy and chronic lymphedema/venous insufficiency.
KTS is a rare condition that occurs most frequently in the lower limbs. The syndrome often involves port wine stains, excess growth of bones and soft tissue, and varicose veins [7][8]. It is essential to note that KTS
Signs and Symptoms
Characteristics of Klippel-Trenaunay Syndrome
Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder that affects the development of blood vessels, soft tissues, and bones. The condition has three characteristic features:
- Red birthmark: A capillary malformation, also known as a port-wine stain, which appears as a red or purple mark on one limb.
- Abnormal overgrowth: Soft tissues and bones in the affected area may become enlarged or hypertrophied.
- Vein malformations: Abnormalities in the veins, such as varicose veins or venous malformations.
Additional Symptoms
In addition to these characteristic features, people with KTS may experience other symptoms, including:
- Pain and swelling in the affected area
- Bleeding and blood clots due to slow blood flow in the abnormal vessels
- Skin infections
Frequency of Symptoms
The syndrome usually affects only one extremity, but it can be seen in multiple areas or the entire body. In some cases, people with KTS may experience symptoms on both arms or legs.
These symptoms are based on information from:
- [1] Klippel-Trenaunay syndrome (KTS) is a rare congenital (present at birth) disorder.
- [3] Learn about Klippel-Trenaunay Syndrome, including symptoms, causes, and treatments.
- [5] Klippel-Trenaunay syndrome (KTS) is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones.
- [8] Symptoms of KTS · A capillary malformation covering 1 or both arms or legs. · Swollen or malformed lymphatic vessels or veins (venous malformations).
- [11] Klippel-Trenaunay Syndrome (KTS) is a rare and sporadic congenital disorder, characterized by the classical triad of port-wine stains, varicosities along with bone and soft tissue hypertrophy.
- [13] Symptoms of Klippel-Trenaunay syndrome include port-wine stain birthmarks, varicose veins, and enlargement of bone and soft tissue.
Additional Symptoms
- Skin infections
- Pain and swelling in the affected area
- Red birthmark
- Abnormal overgrowth
- Vein malformations
- Bleeding and blood clots due to slow blood flow in the abnormal vessels
Diagnostic Tests
Diagnostic Tests for Klippel-Trenaunay Syndrome
Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder that requires a comprehensive diagnostic evaluation to confirm the condition. The following tests are commonly used to diagnose KTS:
- Physical Exam: A thorough physical examination by a vascular malformations specialist is essential in evaluating and identifying the type and severity of the condition.
- Imaging Studies:
- CT Scans or MRIs: These imaging studies help evaluate soft tissues and bones, providing valuable information for diagnosis and treatment planning.
- Magnetic Resonance (MR) Angiogram: A specialized MRI that looks at blood vessels and veins to identify any abnormalities.
- Doppler Ultrasound: This test evaluates how blood flows through veins and arteries, helping to diagnose KTS.
- Blood Work: Laboratory tests may be performed to rule out other conditions or to confirm the diagnosis of KTS.
- Biopsy: In some cases, a small tissue sample may be taken from the affected area for genetic mutation analysis.
Additional Tests
The diagnostic process for KTS may involve additional tests, including:
- Prenatal Ultrasound: In some cases, evidence of KTS can be seen during prenatal ultrasound.
- Imaging Studies and Laboratory Tests: Additional imaging studies and laboratory tests may be performed to confirm the diagnosis and rule out other conditions.
Confirming Diagnosis
A definitive diagnosis of KTS is confirmed by identifying a PIK3CA mosaic variation on affected tissue, usually skin, without culture. This genetic mutation analysis is essential for accurate diagnosis and treatment planning.
References:
[2] Tests for Klippel-Trenaunay syndrome may include: CT scans or MRIs to look at soft tissues and bones; Magnetic resonance (MR) angiogram, a specialized MRI to look at blood vessels and veins; Doppler ultrasound to look at how blood flows through veins and arteries. [4] Learn about the test procedures for diagnosing Klippel-Trenaunay syndrome, including Doppler ultrasound, CT scan, and magnetic resonance imaging (MRI). [12] The tests may be repeated throughout the person’s lifetime, especially during pregnancy and before surgery or a medical procedure. Biopsy is seldom needed to diagnose Klippel-Trenaunay syndrome, but taking a small tissue sample from the area and examining it for genetic mutations may be recommended in some cases. [13] Overview. Klippel-Trenaunay (klih-PEL tray-no-NAY) syndrome ― also called KTS ― is a rare disorder found at birth (congenital) involving problems in the development of certain blood vessels, soft tissues (such as skin and muscles), bones and sometimes the lymphatic system. [14] Klippel-Trenaunay Syndrome (KTS) is a very rare condition in which blood vessels do not form properly. It can affect the capillary, venous, and lymphatic vessels. Signs and Symptoms. ... Diagnosis and Tests. Diagnosis and tests may consist of: Physical exam; Blood work; Imaging; [15] Klippel-Trenaunay syndrome (KTS) is a rare vascular anomaly that is present at birth (congenital). ... any imaging studies and/or laboratory tests that have been performed, and a complete physical examination. The medical specialists will then confer and diagnose the condition and propose a treatment plan. Additional testing may include ...
Additional Diagnostic Tests
- Physical Exam
- Biopsy
- Prenatal Ultrasound
- Doppler Ultrasound
- Blood Work
- CT Scans or MRIs
- Magnetic Resonance (MR) Angiogram
- Imaging Studies and Laboratory Tests
Treatment
Treatment Options for Klippel-Trenaunay Syndrome
Klippel-Trenaunay syndrome (KTS) is a rare congenital condition that affects the development of blood vessels, soft tissues, bones, and sometimes the lymphatic system. While there is no cure for KTS, various treatment options are available to manage its symptoms.
Medications
Several medications have been used to treat KTS, including:
- Blood-thinning medicines: To prevent blood clots and reduce the risk of bleeding.
- Sirolimus (Rapamycin): An mTOR inhibitor that can slow down the progression of vascular malformations and improve symptoms. [1][2]
- Alpelisib (Vijoice): A PIK3CA inhibitor that has been approved for patients aged 2 years and older with severe manifestations of PIK3CA-related overgrowth, which includes KTS. [3]
Other Treatment Options
In addition to medications, other treatment options may include:
- Compression garments: To help manage symptoms such as chronic venous insufficiency, lymphedema, recurrent cellulitis, and recurrent bleeding from capillary or venous malformations of the extremity.
- Laser treatment: For port-wine stains associated with KTS.
Multidisciplinary Approach
Treatment for KTS often involves a multidisciplinary approach, with doctors from various specialties such as vascular anomalies, radiology, plastic surgery, orthopaedics, hematology, and others working together to manage the condition. [4]
It's essential to note that treatment plans for KTS are tailored to individual needs and may vary depending on the severity of symptoms and other factors.
References:
[1] Context 11: mTOR inhibitor drugs such as sirolimus and alpelisib may slow down the progression of vascular malformations and improve symptoms.
[2] Context 4: Sirolimus. Providers typically use this drug to prevent transplanted organ rejection, but it can also be used to treat KTS.
[3] Context 3: Alpelisib (Vijoice) has been approved for patients aged 2 years and older with severe manifestations of PIK3CA-related overgrowth, which includes KTS.
[4] Context 11: Treatment for Klippel-Trenaunay syndrome may involve doctors from several specialties.
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Klippel-Trenaunay Syndrome
Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder characterized by the triad of capillary malformation, venous malformation, and limb overgrowth. When diagnosing KTS, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for KTS:
- Beckwith-Wiedemann syndrome: This is a genetic disorder characterized by overgrowth of various body parts, including the limbs, and an increased risk of tumors.
- Proteus syndrome: A rare genetic disorder that causes excessive growth of skin, bones, and other tissues, often accompanied by intellectual disability and seizures.
- Russell-Silver syndrome: A rare genetic disorder that affects growth and development, leading to short stature and limb abnormalities.
- Parkes Weber syndrome: A rare congenital disorder characterized by a port-wine stain (capillary malformation) on the skin, often accompanied by varicose veins and hypertrophy of soft tissues.
- Diffuse capillary malformation with overgrowth: A condition that presents with widespread capillary malformations and limb overgrowth, similar to KTS.
- Lymphedema: A condition characterized by swelling of the limbs due to lymphatic vessel obstruction or dysfunction.
- Lymphatic malformation: A rare congenital disorder characterized by abnormal development of lymphatic vessels, leading to swelling and other symptoms.
- Venous malformation: A condition that presents with abnormal development of veins, often accompanied by varicose veins and hypertrophy of soft tissues.
Key Points
- KTS is a complex congenital disorder that requires careful consideration of differential diagnoses.
- Other conditions, such as Beckwith-Wiedemann syndrome, Proteus syndrome, and Russell-Silver syndrome, may present with similar symptoms.
- A thorough history, clinical examination, and imaging studies are essential for accurate diagnosis and differentiation from other conditions.
References
- OMIM # 149000: Klippel-Trenaunay-Weber Syndrome
- Various medical literature sources (listed in the context)
Additional Differential Diagnoses
- Lymphatic malformation
- Venous malformation
- Diffuse capillary malformation with overgrowth
- N syndrome
- lymphedema
- Proteus syndrome
- Beckwith-Wiedemann syndrome
- lymphedema-distichiasis syndrome
- obsolete enchondromatosis
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- oboInOwl#hasDbXref
- UMLS_CUI:C0022739
- oboInOwl#id
- DOID:2926
- core#notation
- DOID:2926
- IAO_0000115
- A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
- oboInOwl#hasExactSynonym
- Klippel-Trenaunay-Weber syndrome
- rdf-schema#label
- Klippel-Trenaunay syndrome
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_225
- relatedICD
- http://example.org/icd10/Q87.2
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_10036
- owl#annotatedSource
- t423561
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.