Materiały źródłowe

• #1 Orphanet: Klippel-Trénaunay syndrome

  https://www.orpha.net/en/disease/detail/90308

  A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. […] The syndrome is due to heterozygous post-zygotic mosaic variation in the PIK3CA gene, occurring in early embryogenesis. It has to be noted that not all KTS appear to result from PIK3CA mosaic variation.

• #2 Klippel-Trenaunay syndrome

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20374143

  KTS is a genetic disorder. It involves genetic changes (mutations), most commonly in the PIK3CA gene. This gene is responsible for the growth of cells and the development of tissues in the body. A change in this gene results in overgrowth of tissues. […] KTS is not usually inherited. The gene changes occur randomly during cell division in early development before birth.

• #3 Klippel–Trénaunay syndrome

  https://dermnetnz.org/topics/klippel-trenaunay-syndrome

  KlippelTrnaunay syndrome is a rare disease, affecting one in 20,00040,000 children. […] While the exact cause of KlippelTrnaunay syndrome is not clear, several genes and pathways have been identified in its pathogenesis. Notably, PIK3CA gene mutations have been detected in some cases of KlippelTrnaunay syndrome. […] The angiogenic gene VG5Q has also been implicated in KlippelTrnaunay syndrome.

• #4 A neonate with Klippel–Trénaunay syndrome: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-03029-4

  KTS has been shown to belong to a spectrum of segmental overgrowth diseases caused by mutations in the PIK3CA gene, which differentiates it from ParkesWeber syndrome, which is caused by mutations of the RASA1 gene. […] Its prevalence is low or underreported with a very low incidence of about 1:100,000. It has no predilection for gender, race, or geographical area and occurs sporadically.

• #5 Klippel-Trenaunay syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/klippel-trenaunay-syndrome/

  Klippel-Trenaunay syndrome can be caused by mutations in the PIK3CA gene. This gene provides instructions for making the p110 alpha (p110α) protein, which is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). PI3K plays a role in chemical signaling that is important for many cell activities, including cell growth and division (proliferation), movement (migration) of cells, and cell survival. These functions make PI3K important for the development of tissues throughout the body. […] The PIK3CA gene mutations associated with Klippel-Trenaunay syndrome alter the p110α protein. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. Increased cell proliferation leads to abnormal growth of the bones, soft tissues, and blood vessels. […] Because not everyone with Klippel-Trenaunay syndrome has a mutation in the PIK3CA gene, it is possible that mutations in unidentified genes may also cause this condition.

• #6 Klippel-Trénaunay syndrome: Symptoms and treatment

  https://www.medicalnewstoday.com/articles/klippel-trenaunay-syndrome-symptoms-and-treatment

  Klippel-Trnaunay syndrome (KTS) refers to a condition that impacts the development of blood vessels, soft tissues, and bones. […] Currently, researchers are still unsure of the exact cause of KTS. However, research suggests that several genes and pathways likely play a role. Notably, evidence associates alterations in the phosphatidylinositol-4-5-bisphosphate 3 kinase catalytic subunit, or PIK3CA gene, with the development of KTS. […] A somatic alteration, or alteration in DNA after fertilization, causes a change in the PIK3CA gene. This change alters the protein that PIK3CA produces, which makes PI3K more active than usual. This higher activity results in excessive growth of bones, soft tissues, and blood vessels, which leads to the symptoms of KTS. […] As such, healthcare professionals may describe KTS as a condition on the PIK3CA-related overgrowth spectrum (PROS). This term refers to a group of genetic conditions that involve the overgrowth of various body parts due to changes in the PIK3CA gene. […] Researchers believe a genetic alteration in the PIK3CA gene may relate to the development of KTS.

• #7 Klippel-Trenaunay syndrome (KTS) – Vascular surgery | Northwell Health

  https://www.northwell.edu/vascular-surgery/conditions/klippel-trenaunay-syndrome

  Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder, meaning patients are born with it. […] The disorder stems from a genetic mutation of the PIK3CA gene, which causes a domino effect of development issues relating to tissues in the body. This condition is not hereditary.

• #8 Klippel–Trénaunay syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome

  KlippelTrnaunay syndrome, formerly KlippelTrnaunayWeber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. […] It belongs to the PIK3CA-related overgrowth spectrum of diseases which are caused by mutations in the PIK3CA gene. […] As of 2016, it belongs to the PIK3CA-related overgrowth spectrum of diseases, which are caused by mutations in the PIK3CA gene. Mutations in phosphatidylinositol-4-5-bisphosphate 3 kinase, catalytic subunit (=PIK3CA) gene leads to dysregulation of the MTOR pathway.

• #9 Klippel-Trenaunay-Weber Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK558989/

  Recent studies have linked the etiology of Klippel Trenaunay syndrome to somatic mutations in the phosphatidylinositol-4-5-bisphosphate 3 kinase, catalytic subunit (PIK3CA) gene. This leads to the activation of phosphatidylinositol-3-kinase (PI3K)/protein kinase and cell overgrowth by dysregulation of the mTORC2 pathway. […] Mutations occur in the embryological stage of development involving angiogenesis, reflecting findings seen in this condition. Now, KTS is grouped under the umbrella of similar overgrowth syndromes – PIK3CA-related overgrowth spectrum (PROS). […] Several overgrowth syndromes with overlapping clinical manifestations involving a number of mutations in the PIK3CA gene have been identified. In rare instances, translocations of chromosomes 5-11 and 8-14 have been reported.

• #10 Klippel-Trenaunay-Weber Syndrome: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/945760-overview

  A case report of KTWS in a monozygotic twin with an unaffected twin advances the theory of a paradominant inheritance pattern. […] This theory suggests that KTWS is produced by a single gene defect lethal in individuals who are homozygous for this gene. Heterozygotes carry the gene but are unaffected. The disease manifests in individuals who demonstrate loss of heterozygosity from a somatic mutation during embryogenesis. In these individuals, only the skin region harboring this cell population demonstrates the KTWS mutation. […] The association between the angiogenic factor gene AGGF1 and KTS appears to be significant. […] Common AGGF1 variants may confer risk of KTWS. […] Kihiczak et al report that KTWS may result from a pathogenic gene for vascular and tissue overgrowth.

• #11 Compva: Klippel-Trénaunay syndrome

  https://www.compva.com/science/klippel-trenaunay-syndrome

  Klippel-Trnaunay syndrome occurs sporadically (not familial). […] It is based on a genetic mosaic. In at least some patients, somatic (present only in affected tissues) gain-of-function mutations have been detected in the PIK3CA oncogene, which encodes the catalytic alpha subunit of phosphatidylinositol 3-kinase (PI3K). […] In addition, sequence variants of the gene AGGF1, which encodes an angiogenic factor, have been identified as a predisposing factor.

• #12 Frontiers | Uterine Involvement in Klippel–Trenaunay Syndrome: A Rare But Relevant Event. Review of the Literature

  https://www.frontiersin.org/journals/surgery/articles/10.3389/fsurg.2022.893320/full

  Klippel–Trenaunay syndrome (KTS) is a rare vascular congenital disorder characterized by the classical triad of port-wine stains, abnormal growth of soft tissues and bones, and vascular malformations. […] The etiology of this syndrome is still unknown. Generally, the disease occurs sporadically with no sex predilection, although some authors have proposed that KTS affects males more often than females. […] Vahidnezhad et al. hypothesized that KTS may result from mutations in PIK3CA, the gene involved in the construction of the enzyme PI3K (phosphatidylinositol 3-kinase), cellular proliferation and migration, suggesting that KTS belonged to the PIK3CA-related overgrowth spectrum (PROS). […] Recently, several genetic studies reported sporadic translocations of chromosomes 5–11 and chromosomes 8–14 as the cause. […] Tian et al. proposed as a molecular pathogenic mechanism of the disease an angiogenic factor, called VG5Q, which causes an increase in angiogenesis when overexpressed. […] Patients with a mutation in the PIK3CA gene show an abnormal growth of the bones, soft tissues and blood vessels.

• #13 Klippel-Trenaunay Syndrome – K-T Support Group

  https://k-t.org/about-kt/what-is-kts

  Klippel-Trenaunay (K-T) Syndrome is characterized by a localized or diffuse capillary malformation that overlies a venous malformation and/or lymphatic malformation with associated soft tissue and bone overgrowth (hypertrophy). […] Studies published in early 2015 indicate a somatic mutation of the PIK3CA gene is involved in a group of closely related overgrowth conditions (some K-T, CLOVES, M-CM, FAVA, FIL, CLAPO, macrodactyly, lymphatic malformations). […] In some people, PIK3CA is not the gene that causes their K-T. Some will find GNAQ, TIE2, PIK3CR1, or other mutations. […] The term Klippel-Trenaunay is from the early 1900’s so it is associated with a set of symptoms, not a genetic diagnosis. […] A PROS diagnosis for K-T should not be assumed unless genetic testing has confirmed the presence of PIK3CA. Many conditions can manifest symptoms that look like K-T. […] K-T is associated with somatic mutations in the PIK3CA gene.

• #14 Klippel-Trenaunay syndrome | Health Library | Memorial Health System

  https://www.mhsystem.org/health-library/con-20374143/

  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. […] KTS is a genetic disorder. It involves genetic changes (mutations), most commonly in the PIK3CA gene. This gene is responsible for the growth of cells and the development of tissues in the body. A change in this gene results in overgrowth of tissues. […] KTS is not usually inherited. The gene changes occur randomly during cell division in early development before birth.

• #15 Klippel-Trenaunay syndrome – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube

  https://www.augustahealth.com/disease/klippel-trenaunay-syndrome/

  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. […] KTS is a genetic disorder. It involves genetic changes (mutations), most commonly in the PIK3CA gene. This gene is responsible for the growth of cells and the development of tissues in the body. A change in this gene results in overgrowth of tissues. […] KTS is not usually inherited. The gene changes occur randomly during cell division in early development before birth.

• #16 What Is Klippel Trenaunay Syndrome?

  https://www.icliniq.com/articles/genetic-disorders/klippel-trenaunay-syndrome

  Klippel-Trenaunay syndrome (KTS) is a rare congenital (existing from birth) vascular disease. […] A DNA (deoxyribonucleic acid) mutation before the baby’s birth may cause KTS. Though the syndrome can run in families, KTS primarily affects individuals without a known family history of the condition. A mutation can occasionally result in multiple sets of cells that share the same genes. This particular circumstance is known as a mosaic mutation. According to some medical professionals, the cause is a mutation in the cells that make up the lymphatic system, veins, and other tissues that happens before birth and is not inherited. There is no known pregnancy-related food, drug, or activity that can cause KTS.

• #17 Klippel-Trenaunay-Weber Syndrome Causes, Symptoms, Treatment

  https://www.medicinenet.com/klippel-trenaunay-weber/views.htm

  Klippel-Trnaunay-Weber syndrome is a condition characterized by a triad of findings: […] It is not completely known, but some researchers believe part of the defect is related to the control of angiogenic cells (precursors of blood vessels). Others believe it is caused by some injury to the developing embryo within the womb, resulting in venous compression and resultant abnormal venous pressures, causing varicosities and limb enlargement. In other words, we don’t currently know the precise events that led to the development of Klippel-Trnaunay-Weber. […] Most cases of Klippel-Trnaunay-Weber are sporadic. They usually occur without warning, with no prior case in the family. However, there have been some cases that run in families.

• #18 Klippel-Trenaunay-Weber Syndrome: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/945760-overview

  The exact cause of Klippel-Trenaunay-Weber syndrome (KTWS) remains to be elucidated, although several theories exist. Bliznak and Staple suggested intrauterine damage to the sympathetic ganglia or intermediolateral tract leading to dilated microscopic arteriovenous anastomoses as the cause. […] Servelle believes that deep vein abnormalities, with resultant obstruction of venous flow, lead to venous hypertension, the development of varices, and limb hypertrophy. […] Baskerville et al contend that a mesodermal defect during fetal development causes maintenance of microscopic arteriovenous communications. […] Finally, McGrory and Amadio believe that an underlying mixed mesodermal and ectodermal dysplasia is likely responsible for the development of KTWS. […] Most cases KTWS are sporadic, although a few cases in the literature report an autosomal dominant pattern of inheritance.

• #19 📃 Klippel Trenaunay-Weber syndrome

  https://thefetus.net/content/klippel-trenaunay-weber-syndrome-2

  The pattern of inheritance for this syndrome is unknown and this it etiology has not yet been determined. However, Happle suggested a paradominant inheritance. Heterozygous individuals for a single gene defect are phenotypically normal. The trait is only expressed when a somatic mutation occurs in the normal allele at an early stage for the embryogenesis. The embryo is then a mosaic of homozygous or heterozygous cell lines for the mutation. This explain the patchy distribution of the defect. […] Studies by Servelle et al. have showed atresia of the venous system causing venous stasis, varicosities, edema and limb elongation. Baskerville et al. proposed a generalized mesodermal abnormality during fetal development affecting angiogenesis and leading to maintenance of microscopic arteriovenous communications in the limb bud which results in varicosities and hypertrophy. […] Aelvoet et al suggested that Klippel-Trenaunay-Weber syndrome can have a multifactorial inheritance pattern in some cases, with a range of vascular malformations seen in affected families.

• #20 The etiology of the Klippel-Trenaunay syndrome – PubMed

  https://pubmed.ncbi.nlm.nih.gov/2996451/

  The etiology of the Klippel-Trenaunay syndrome (KTS) remains obscure. Although venous hypertension secondary to deep venous obstruction has been suggested as a cause, recent studies have demonstrated that most patients have unimpeded venous drainage. […] The authors suggest that KTS is caused by mesodermal abnormality during fetal development, leading to the maintenance of microscopic arteriovenous communications in the limb bud, as a result of which the triad of nevus, hypertrophy, and superficial varices is produced. Deep venous abnormalities occur pari passu with the triad and are not responsible for its development.

• #21 Klippel–Trenaunay Syndrome with Hearing Loss: Is it the Cause? A Rare Case Report

  https://www.ijhns.com/abstractArticleContentBrowse/IJHNS/33974/JPJ/fullText

  KlippelTrnaunay syndrome (KTS) is characterized by a triad of capillary malformations, venous malformations, and soft tissue or bony hypertrophy. The etiology of the syndrome is unknown. […] The cause of the syndrome is not known, but it has been suggested that it is caused by a somatic mutation associated with angiogenesis and vasculogenesis during the embryonic period. […] The KTS with hearing loss is a very rare presentation. The cause of hearing loss in this syndrome is not well understood and unusual presentation in all reported cases.

• #22 Klippel-Trénaunay Syndrome – Seattle Children’s

  https://www.seattlechildrens.org/conditions/klippel-trenaunay-syndrome-kts/

  Klippel-Trenaunay syndrome (KTS) is a rare disorder that is present at birth (congenital). […] Children with KTS have changes in the PIK3CA gene. KTS is 1 of the conditions on the PIK3CA-related overgrowth spectrum (PROS). […] We have created a way to test a patients tissue for genetic changes (variants or mutations) known to cause vascular anomalies. Genetic test results help inform your childs diagnosis and may help guide their treatment. […] Our physician-scientists have created a way to test patients tissue and body fluids for the genetic changes known to cause vascular anomaly syndromes. The test is called a gene panel. We can test DNA in tissue sent to us from doctors across the nation. No other childrens hospital has a gene panel certified for clinical use with vascular anomalies. This certification means doctors can make treatment decisions based on the results. […] A precise diagnosis may expand your childs treatment options to include drugs that target the biological pathway causing their condition. These drugs may be new targeted therapies or those already used to treat other diseases.

• #23 Klippel-Trenaunay syndrome | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/klippel-trenaunay-syndrome/

  We do not really know what causes Klippel-Trenaunay syndrome. There are various theories about possible causes, including problems with how the blood vessel system develops during pregnancy, but more research is needed to confirm the cause. […] It is clear that it is not passed on from parent to child in any direct way.

• #24 Klippel-Trenaunay syndrome – Hancock Health

  https://www.hancockhealth.org/mayo-health-library/klippel-trenaunay-syndrome/

  KTS is a genetic disorder. It involves genetic changes (mutations), most commonly in the PIK3CA gene. This gene is responsible for the growth of cells and the development of tissues in the body. A change in this gene results in overgrowth of tissues. […] KTS is not usually inherited. The gene changes occur randomly during cell division in early development before birth. […] Family history doesn’t seem to be a risk factor, so it’s unlikely that parents of one child with KTS will have another child with the disorder, even if one of the parents has KTS.

• #25 Klippel-Trenaunay-Weber Syndrome | Encyclopedia.com

  https://www.encyclopedia.com/science/encyclopedias-almanacs-transcripts-and-maps/klippel-trenaunay-weber-syndrome

  Klippel-Trenaunay-Weber syndrome (KTWS) is most often defined by the presence of three classic characteristics: vascular abnormalities, prominent varicose veins or darkened skin patches, and limb enlargement. […] In most cases, KTWS occurs by chance alone. There is usually no family history and very little chance of the condition occurring again, even to the same parents. […] In 2004, researchers reported that abnormalities in the VG5Q gene on chromosome 5 were found to cause a susceptibility to KTWS. […] A few families with multiple people who may have KTWS have been noted. Ceballos-Quintal, et al., described a family with three people who were suspected to have KTWS, in three separate generations. […] This family history suggests autosomal dominant inheritance in rare cases of KTWS. […] The best way to increase one’s prognosis is to utilize a team of specialists that is familiar with KTWS.

• #26 Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome | Nature

  https://www.nature.com/articles/nature02320

  Angiogenic factors are critical to the initiation of angiogenesis and maintenance of the vascular network. Here we use human genetics as an approach to identify an angiogenic factor, VG5Q, and further define two genetic defects of VG5Q in patients with the vascular disease Klippel-Trenaunay syndrome (KTS). One mutation is chromosomal translocation t(5;11), which increases VG5Q transcription. The second is mutation E133K identified in five KTS patients, but not in 200 matched controls. These results define VG5Q as an angiogenic factor, establish VG5Q as a susceptibility gene for KTS, and show that increased angiogenesis is a molecular pathogenic mechanism of KTS. […] VG5Q shows strong expression in blood vessels and is secreted as vessel formation is initiated. VG5Q can bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion. […] VG5Q E133K and KTS translocation t(5;11) are functional mutations.

• #27 Klippel-Trenaunay Syndrome | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/klippel-trenaunay-syndrome

  Klippel-Trenaunay syndrome (KTS) is a rare congenital (present at birth) vascular anomaly that results in your child having a large number of abnormal blood vessels. […] No one knows the precise cause of KTS. Some doctors think it’s caused by a mutation that occurs before birth (but isn’t inherited) in the cells that form the lymphatic system, veins, and other tissues. No known food, medication or activity during pregnancy can cause KTS. […] KTS is caused by errors that occur when blood and lymphatic vessels are forming.

• #28 Spectrum of imaging findings in Klippel-Trenaunay syndrome affecting lower limbs: a report of three cases | Egyptian Journal of Radiology and Nuclear Medicine | Full Text

  https://ejrnm.springeropen.com/articles/10.1186/s43055-019-0123-7

  Klippel-Trenaunay syndrome (KTS) is a rare disorder (estimated incidence 35/100,000), characterized by a triad of vascular malformation, venous varicosities, and limb hypertrophy. […] Superficial venous malformations of the unilateral lower limbs or varicosities in unusual distribution are the most common findings but deeper extension into the underlying muscle, bone, or even visceral organs like the spleen, liver, pleura, urinary bladder, or colon (submucosal varices) also have been reported. […] Deep venous abnormalities such as aplasia, duplications, and aneurysmal dilatation have also been identified. […] Persistence of embryonic veins such as lateral marginal vein of Servelle and sciatic vein is also a feature suggestive of KTS. […] A venous malformation in this classification has been applied as a blanket term used to encompass varicose veins, hypoplasia or aplasia of veins, and persistence of fetal veins. […] Hypotrophy/atrophy, as present in our first case, is an extremely uncommon feature of KTS, with only a few reports. […] The absence of deep venous system in case 1 and the presence of an intraosseous extension in case 2 pointed towards higher disease severity.

• #29 Klippel-Trenaunay-Weber Syndrome: Understanding Symptoms, Causes, and Treatments • Yesil Health

  https://yesilhealth.com/your-health/klippel-trenaunay-weber-syndrome-understanding-symptoms-causes-and-treatments/

  Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare congenital disorder characterized by a triad of symptoms: vascular malformations, limb overgrowth, and port-wine stains. Understanding the causes and risk factors associated with this syndrome is crucial for early diagnosis and management. […] The exact cause of Klippel-Trenaunay-Weber Syndrome remains largely unknown, but it is believed to be linked to genetic mutations. Some studies suggest that mutations in the VEGFR-3 gene, which plays a role in vascular development, may contribute to the condition. […] One of the hallmark features of KTWS is the presence of vascular malformations, which can occur due to abnormal development of blood vessels during embryonic growth. These malformations can lead to a variety of symptoms, including: […] While genetic factors play a significant role, some researchers are exploring the impact of environmental factors on the development of KTWS. Factors such as maternal health during pregnancy, exposure to certain medications, or infections may influence the risk of developing this syndrome. However, more research is needed to establish a clear link.

• #30 Understanding Klippel-Trenaunay Syndrome: Symptoms, Causes, and More

  https://tap.health/klippel-trenaunay-syndrome/

  Klippel-Trenaunay syndrome (KTS) is a rare, congenital condition affecting blood vessels, bones, and soft tissues. […] The exact cause of KTS is unknown; however, its believed to be linked to genetic mutations or abnormalities in blood vessel development during fetal growth. […] While the exact cause remains unknown, research suggests a complex interplay of genetic and environmental factors. […] Although a specific gene hasnt been identified as solely responsible for KTS, some studies suggest a possible link to mutations in genes involved in vascular development. […] In India and other tropical regions, specific environmental factors like infections, nutritional deficiencies, or exposure to certain toxins during critical periods of fetal development could potentially influence KTS manifestation. […] Early diagnosis and access to appropriate healthcare are essential for managing the various complications associated with KTS.

• #31 What Is Klippel-Trenaunay-Weber Syndrome?

  https://www.icliniq.com/articles/genetic-disorders/klippel-trenaunay-weber-syndrome

  Klippel-Trenaunay-Weber syndrome is usually caused due to mutations seen in the PIK3CA gene. These gene mutations are caused due to no specific reasons, and the parents do not receive these genes. Mutation in other genes can also result in KTS, as in some people, KTS is caused without mutation in the PIK3CA gene. KTS condition is not inherited and is caused due to random mutations of genes during cell division that occurs before birth. […] The majority of cases of Klippel-Trenaunay syndrome are sporadic, meaning that it affects individuals who have no family history of the condition. Some believe that it is brought on by a mutation in the cells that make up the lymphatic system, veins, and other tissues that happens before birth and isn’t inherited. There is no known pregnancy-related food, drug, or activity that can cause KTS.

• #32

  https://www.ijsurgery.com/index.php/isj/article/view/664

  Klippel-Trenaunay syndrome is characterized by a triad of port-wine stain, varicose veins with or without venous malformations, and bony and soft tissue hypertrophy. Its cause continues to be investigated, although theories abound. […] This disease has several morbidities like bleeding, venous thrombosis, and in some cases enlargement of limb that may require amputation. […] Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome.

• #33 RRH: Rural and Remote Health article: 5348 – Klippel–Trénaunay syndrome: a case report of a rare vascular disorder identified in a rural Canadian hospital

  https://www.rrh.org.au/journal/article/5348/

  KlippelTrnaunay syndrome (KTS) is a very rare congenital vascular anomaly. It is characterized by the presence of capillary malformation, venous malformation as well as limb overgrowth, generally affecting one extremity. […] Although KTS was first described more than a century ago, the epidemiology and pathophysiology remain to be defined. KTS, along with other vascular malformations, usually does not regress spontaneously, but can regress with puberty, trauma or infections. KTS is believed to be mostly sporadic, but there is also evidence of familial occurrence. […] Several studies have found that most KTS patients have somatic phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) mutations. These mutations eventually lead to an activation of mammalian target of rapamycin (mTOR) and increased angiogenesis, which explains the therapeutic potential of mTOR inhibitor Sirolimus in KTS.

• #34 Klippel-Trenaunay Syndrome (KTS) Treatment Dallas & Coppell

  https://www.veinandwellnesscenters.com/vein-disorders/klippel-trenaunay-syndrome/

  The exact cause of KTS is unknown, but it is believed to result from genetic mutations that affect blood vessel development. It is not typically inherited but occurs sporadically. […] There is no cure for KTS, but the symptoms can be managed effectively with appropriate treatments. Early intervention and ongoing care can significantly improve the quality of life for those with KTS.

• #35 Gastrointestinal involvement in Klippel-Trénaunay syndrome: pathophysiology, evaluation, and management | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02857-5

  Klippel-Trnaunay syndrome is typically a complex combined capillary-lymphatic-venous malformation in lower limb. Gastrointestinal involvement is not infrequent in Klippel-Trnaunay syndrome. Rectal bleeding is the most common complication. Its incidence is underestimated, may be as high as over 30% in patients with KTS. Gastrointestinal involvement is typically presented with edematous and thickened colorectum by the venous malformation (VM) network around and intra-wall. These VMs can cause recurrent rectal bleeding, ranging from occult to massive, and life-threatening hemorrhages. Anorectosigmoid vascular malformations in KTS have distinct and more complicated pathophysiologies than anorectal vascular malformation. KTS can also affect spleen and portal vein system. Generally, several treatments can be used to treat portal hypertension, including portosystemic shunt or mesenterico-Rex shunt, however, primary shunt may be contraindicated if the inferior mesenteric vein (IMV) involved in KTS. The pathophysiologies of anorectal and anorectosigmoid VM in KTS. Anorectosigmoid VM has distinct pathophysiologies from anorectal VM. Firstly, it can cause portal hypertension in KTS patients. Ectatic, incompetent IMV has been identified in colorectal VM. Portal hypertension has been reported in KTS patients, but the underlying pathophysiology we discussed above is underrecognized in literature. Hemorrhoids can be also just the tip of the iceberg of gastrointestinal involvement and/or portal hypertension in KTS. In KTS patients, splenic lesions is multifocal or diffuse lymphatic malformations, not so called hemangioma. Splenomegaly also can be presented in KTS, but there is often no or little clinical significance. Considering the potential causative role of anorectosigmoid VM in portal hypertension, preemptive sigmoidectomy is recommended to prevent the development of portal hypertension complications and downstream sequelae.

• #36

  https://journals.lww.com/md-journal/fulltext/2024/02160/recurrent_hematuria_involving_urinary_system_with.63.aspx

  Klippel-Trenaunay syndrome (KTS) is a rare congenital venous malformation, it had been found to be caused by mutations of the phosphatidylinositol 4, 5-diphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. […] KTS can invade various parts of the body and may be accompanied by vascular malformations in other organs, such as the spinal cord, abdominal organs, pelvic cavity, esophagus, intestine, vagina, perineum, bladder. […] KTS had been found to be caused by mutations in the somatic function acquisition activation of the phosphatidylinositol 4, 5-diphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. […] The main principle of bladder hematuria is that the abnormally thickened permanent ischial vein in KTS patients causes pelvic vein overload, hindering internal iliac vein return, and eventually thickening and rupturing the bladder vein.

• #37 What is Klippel-Trenaunay syndrome

  https://sturge-weber.org/new-to-swf/understanding-kt.html

  Klippel-Trenaunay Syndrome (congenital dysplastic angiopathy) is a congenital vascular disorder of unknown cause. […] Each case of KT is different, with patients having varying symptoms and severity. […] Internal organ involvement should be ruled out in any patient presenting with KT or Parkes-Weber Syndrome.

• #38 RRH: Rural and Remote Health article: 5348 – Klippel–Trénaunay syndrome: a case report of a rare vascular disorder identified in a rural Canadian hospital

  https://www.rrh.org.au/journal/article/5348/

  According to the International Society for the Study of Vascular Anomalies 2014 classification, vascular anomalies are divided into vascular malformations and vascular tumors. Malformations associated with other anomalies represent a further subgroup of vascular malformations to which KTS also belongs. KTS is defined by the triad of capillary and venous malformations as well as limb overgrowth, whereas lymphatic malformation may or may not be present. […] For physicians in rural areas managing patients with KTS, identification is important in order to manage possible complications. These complications can include coagulopathy, thromboembolism and thrombophlebitis. […] Another possible complication of KTS is bleeding from abnormal vessels. The vascular malformations are often not restricted only to the superficial venous system but may also involve the gastrointestinal and genitourinary tract. This can lead to life-threatening hemorrhages, most frequently from the rectum and bladder.

• #39 RRH: Rural and Remote Health article: 5348 – Klippel–Trénaunay syndrome: a case report of a rare vascular disorder identified in a rural Canadian hospital

  https://www.rrh.org.au/journal/article/5348/

  The fact that the patient was diagnosed at an advanced age clearly demonstrates the need of early diagnostic tools in suspected patients to prevent or decelerate possible complications. An important starting point could be genetic testing in pediatric patients with associated clinical findings. In this regard, there has been growing interest in investigating the genetic background of KTS and related disorders.

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