K-T syndrome is a relatively uncommon disease, but I have seen more and more patients in this specialized field over time, perhaps because of the convenience of the Internet and the progress of transportation, patients from all over the country are incessantly coming to me online almost every day, and patients come to the clinic every week. Many patients, especially parents of children with K-T syndrome, are struggling to find a cure, how to treat it, whether to have surgery, and whether it is hereditary. In the face of K-T syndrome, what can we do? I. What is KT syndrome? KT syndrome is a congenital abnormal vascular development disease, called Klippel-Trenaunay syndrome, first reported by French physicians Klippel and Trenaunay in 1900, also known as “congenital venous malformation bone hypertrophy syndrome”, with wine-colored nevus, superficial varicose veins and The main manifestation is the triad of limb hypertrophy. What are the main clinical manifestations of the disease? The main manifestation of this disease is on one side of the limb, especially on the outside of the leg, and some lesions involve the hip, waist or upper limb. The main manifestations are ① Wine stain, a kind of slightly elevated light red or purplish nevus in the shape of a map, involving part of the limb, or all over the affected limb and trunk, which can fade when pressed, and is actually an intradermal vascular nevus, which is the characteristic manifestation of the disease. Wine stains can be found in infancy and are often thought of as birthmarks, and only when the lesion worsens and growth and thickening of one limb occurs will the patient be seen. Foreign statistics on such diseases show that the average interval between the first detection of lesions and the first examination is 12.7 years. ② Growth or thickening of one limb. As the affected child grows, the limb on the diseased side will gradually grow and thicken. The skin temperature is generally higher than that of the healthy side, and there are also abnormalities of the lymphatic system, etc. (3) Superficial varicose veins of the lower limbs, usually about one year after birth, manifest as an abnormal increase of unilateral superficial veins of the lower limbs, varicose into a mass or in the shape of a net, and varicose veins of most affected limbs become increasingly aggravated with age. The site of occurrence is different from the general lower limb superficial varicose veins, mainly concentrated in the outer leg; because of the long-term high pressure of lower limb veins, the affected limbs of adult patients are often accompanied by pigmentation and ulcers. Third, how to distinguish arterial type or venous type? The traditional method of the disease is divided into the following types: ① venous type – mainly with venous abnormalities, including superficial varicose veins, venous aneurysms, deep venous valve insufficiency, deep venous defects, etc.; ② arterial type – i.e. arteriovenous fistula type mainly with abnormal arteriovenous fistula in the affected limb; including arterial blockage. The arterial type – that is, the arteriovenous fistula type is mainly based on the abnormal arteriovenous fistula of the affected limb; including arterial blockage, ischemia or abnormal hyperplasia; ③ mixed type. However, strictly speaking, only the venous type belongs to the real KT syndrome, while the arterial type and the mixed type belong to the PW syndrome, which belong to the same vascular malformation due to the similar clinical manifestations, but the treatment principles are different. IV. What is the difference with simple erythema nodosum? Simple erythema nevosum, also called capillary dilation nevus, is a common congenital, low blood flow intra-dermal vascular malformation, mostly present at birth, and is usually found on the face and neck, mostly unilateral. It is usually not associated with varicose veins and thickened growth of the limbs. The damage starts as several light red patches of different sizes, irregular in shape, with clear borders, not higher than the skin surface, partially or completely discolored by pressure, and smooth surface. With age, the color deepens to red and purple, and the lesion area increases with body growth. The treatment method has pulsed dye laser, the green laser emitted can smoothly penetrate the epidermis on the lesion to enter the lesion, the hemoglobin inside the blood vessels of the lesion area is completely coagulated under the laser, and the abnormal blood vessels are closed, thus treating the lesion. Since the blood vessels in the lesion are distributed in three dimensions under the skin, each laser treatment can only remove some of the blood vessels, and a few vessels may be recanalized after the treatment, so the treatment often needs to be performed in several sessions. The interval between each treatment needs to be more than two months, only about 30% of patients can be cured, and 70% of patients are only effective. Fifth, the harm of K-T syndrome aesthetics, due to the impact of wine spots on the legs, patients, especially female patients, affect the appearance, unable to wear skirts; late bone growth thickening, serious because of the two sides of the lower limb length, resulting in walking limp. Varicose veins cause poor blood return, stagnant venous blood, nutritional changes in the skin, and soreness and painful discomfort in the lower limbs after standing for a long time. Ulcers, poor venous reflux, blood stagnation to a certain extent, venous blood in the toxins, metabolic waste, toxic substances can not be excreted, silt in the leg will cause ulcers, and not healed over time will cause ulcers bigger and bigger. Blood clots. By the same token, slow venous blood return, venous blood within the toxins, metabolic waste stagnation, will lead to thrombosis, thrombophlebitis, serious will form deep vein thrombosis and even embolism off the risk of pulmonary embolism fatal. The manifestation is redness, swelling and pain along the venous travel, increased local skin temperature and pain when touched. Due to the vascular malformation, the affected limb is oversupplied with blood and develops more than the opposite limb, which can lead to soft tissue and bone hypertrophy, limb growth and thickening, and in severe cases, the limb will be lame because of the different lengths of the lower limbs on both sides, and long-term lameness will affect the spinal development and form scoliosis, and the imbalance of force on the bilateral hip joints may cause strain on the hip joints. In individual cases, because the arteriovenous fistula is close to the trunk, it leads to ischemic changes in the distal limbs, manifesting as cold, pale or purple limb endings, and in severe cases, it can lead to blackening of the endings and necrosis. VI. What tests can be done to confirm the diagnosis of KT syndrome? Currently, KTS is considered to be a series of pathophysiological syndromes caused by venous hypertension. Color Doppler ultrasonography can detect abnormal veins, and 64-layer spiral CT venography or DSA imaging can show ectopic superficial varicose veins and abnormally increased arterial and arteriovenous fistulas. The diagnosis can be confirmed by combining clinical wine colored nevus, superficial varicose veins and triad of limb hypertrophy with physical examination by the physician. 7. What kind of treatment is available for K-T syndrome? How to determine whether surgery is needed? After the diagnosis of KT syndrome is confirmed through examination and physical examination, the question arises whether the disease needs treatment and how to treat it. Does it require surgery? What are the criteria for judging? How effective is it? The principles and effects of different treatment methods are discussed below. Pharmacologic treatment For the blood pooling and pain associated with KTS, adult patients may be treated with intravenous active drugs. Intravenous active drugs are used to reduce edema and promote ulcer healing. Horse chestnut seed extracts such as mazurin; flavonoids, hesperidin such as diosmin; and chemotherapeutic agents include calcium hydroxybenzoate. Other botanical ingredients such as herbaceous rhizome infusion tablets abortifacient-M tablets. The use of intravenous active drugs is based on the principle of increasing venous tone and capillary permeability, and flavonoids can reduce inflammation and edema by affecting leukocytes and epithelial cells. Horse chestnut seed extract (hesperidin) is effective in reducing edema, pain and itching. Diosmin, hesperidin, and micronized purified flavonoids reduce painful cramps and restless leg syndrome and promote improved skin nutritional status. Hexaconitine has been shown to promote ulcer healing. Compression therapy Mild limb growth and thickening, superficial varicose veins as the main symptom, you can wear medical secondary compression elastic stockings, which need to be tailored to improve blood return, thus improving the difference between the legs, can control varicose veins, reduce the heaviness and swelling of the lower limbs caused by venous stasis, and prevent the occurrence of thrombotic superficial phlebitis. Medical compression stockings can reduce the swelling and heaviness of the lower limbs and prevent bruising ulcers and associated pain. Avoiding prolonged standing, sitting and leg elevation also helps to promote venous return and reduce blood stagnation. The price of imported medical compression stockings is about 600 yuan. Adult compression stockings are available in a wide range of models, with secondary and tertiary compression. For children, especially for young children, there are relatively few compression stockings, but Beijing Children’s Hospital has some models, and some imported compression stockings need to be customized abroad for children, which is relatively expensive. Depending on the specific situation wear secondary or tertiary compression to the thighs. Surgical treatment For superficial venous lesions alone, especially for patients with open deep veins, serious symptoms of swelling and heaviness and accompanying pain in the lower limbs, recurrent thrombosis and ulcers, minimally invasive superficial vein surgery is feasible, usually with local varicose superficial vein stripping or minimally invasive ablation therapy, which can effectively relieve symptoms and improve appearance. Deep venous defects or occlusions cannot be treated with this type of surgery. In combination with osteoarthrosis, there are no reports on whether early surgery for venous lesions can help improve overgrowth, but epiphyseal fixation by chiseling a rectangular bone block across the epiphyseal plate at an appropriate site in the epiphysis and then implanting this bone block upside down in this groove has shown some efficacy. Subsequently, Raab et al. concluded from a case study that epiphyseal fixation is not appropriate before the age of 9 years in girls and 11 years in boys because of the risk of dislodgement or instability. In cases where the difference between the two legs is >1.5 cm, the sole of the healthy side should be raised or epiphyseal fixation should be used if necessary. . The need for surgery depends on whether there is an arteriovenous fistula or arterial lesion, and an MRI of the lower limbs can be done if necessary. If it is arterial KT syndrome, surgery is needed to embolize some abnormal arteries. Embolization can be performed before puberty to embolize some of the abnormal arteries. Some embolization can be attempted for muscular soft tissue and bone hypertrophy with the aim of limiting the development of the affected limb and reducing claudication. Transcatheter arterial interventional embolization has become the main method of treatment for arteriovenous fistulas, which is performed by embolization with pinyamycin + ultra-liquefied iodine oil and microcoil embolization. The principle of treatment is “resection of the lesion and restriction of the flow”, which means that if the lesion can be resected, the fistula is blocked from the arterial side to increase the distal blood flow, while increasing the return vein in order to alleviate the disease and slow its progression. Smaller arteriovenous fistulas above the knee are treated with microsprings or sclerotherapy, and arteriovenous fistulas at the knee are treated with a looped artificial vessel replacement. . This type of treatment is often done in the cosmetic laser clinic of the dermatology department and can be done with a transdermal Nd:YAG laser, an intracavitary Nd:YAG laser for large lesions up to 10 mm deep under the skin. Large areas of wine discoloration on the extremities are treated with a combination of pulsed fuel laser and percutaneous Nd:YAG laser with ice cooling, and carbon dioxide laser when combined with hyperkeratosis of the skin. Unless the aesthetic requirements are particularly high, this type of treatment is generally not recommended because it is difficult to completely eliminate the lesions. VIII. Can I get married and have children, and is it hereditary? Some parents have asked how to avoid the birth of another child with KT. We have observed more than 100 cases in which both parents do not have KT syndrome, and more than 20 cases in which children were born after marriage and no KT syndrome was inherited. Further medical evidence is needed. In recent years, there have been many reports on the genetic aspects of KTS in vascular malformations. Although most scholars believe that the disease is autosomal dominant, its familial genetic studies have demonstrated that its mutated genes play an important role in the process of blood vessel formation, and therefore the wine-colored nevus in KTS triad is familially inherited. A genetic relationship between VEGF and the vascular genes VG5Q and KTS, located on the short arm of human chromosome 5, has been reported in the literature. Genetic testing in this area is also under scientific study. There is some hope for genetic testing for treatment. We hope that the rapid development of medicine in the future will lead to the development of targeted drug therapy to repair the mutated gene, thus achieving a cure for KTS. What can be done to control the progression of the disease in growing children? Wearing medical elastic stockings for a long time is a simple and effective treatment to prevent excessive growth of the affected limb. If the limb length difference exceeds 37.5 px, the sole of the healthy side can be padded, or the development of the longer limb can be restricted with epiphyseal clips, thus reducing the length difference between the two limbs to prevent secondary lesions caused by long-term limping. For patients with arteriovenous fistulas or severe bilateral limb inequality, bilateral lower limb arteriograms can be performed, and if abnormal vessels are found, they can be embolized in order to limit the excessive development of the affected limb and reduce claudication. X. Summary The syndrome is a congenital abnormal vascular development, also known as “congenital venous malformation bone hypertrophy syndrome”, with wine colored nevus, superficial varicose veins and limb hypertrophy triad as the main manifestation. The disease can not be cured by medical technology at present, but wearing medical elastic stockings for a long time is a simple and effective treatment, if you can insist on wearing them without interruption, you can effectively solve the problem of limb thickening and growth, and avoid complications such as thrombosis and ulcers. The Chinese academician of vascular surgery, Prof. Wang Zhonghao, has a special chapter on K-T syndrome in his monograph “Wang Zhonghao Vascular Surgery”, and the typical case in the appendix, which insists on wearing medical elastic stockings, has good results for more than 20 years of follow-up. If the limb length difference exceeds 1.5cm, the sole of the healthy side can be padded to prevent secondary lesions caused by long-term claudication. The first of these is to make sure that the patient has a good understanding of the disease. The disease is associated with genetic mutations, and we hope that the rapid development of medicine in the future will lead to the development of targeted drug therapy to repair the mutated genes, thus achieving a cure for KTS.