congenital venous malformation limb hypertrophy syndrome
Introduction
Introduction to congenital venous malformation limb hypertrophy syndrome Congenital venous malformation (Klippel-Trénaunaysyndrome, KTS) is a complex congenital vascular dysplasia, clinically developed with deep and/or superficial vein malformations, cutaneous hemangioma (sputum), bone and soft tissue Triads such as excessive growth are characteristic. A small number of cases may be associated with cavernous hemangioma of the limbs and hemangioma of the internal organs, and individual patients may have arterial lesions. basic knowledge The proportion of illness: 0.001% Susceptible people: seen in children Mode of infection: non-infectious Complications: hemangioma
Cause
Causes of congenital venous malformation limb hypertrophy syndrome
(1) Causes of the disease
KTS is a normal, non-family and non-hereditary dysplastic disease. The cause is still unknown. Only one of the male patients in the literature reported that one of the sisters was sick. Others have no genetic characteristics. Without a clear family history, patients cannot be traced back to birth trauma, maternal disease during pregnancy, and taking a history of fetal malformation. The current representative hypothesis is mesoderm dysplasia. During embryonic development of limb buds, embryonic blood vessels The degeneration is delayed, resulting in increased blood flow to the affected limb, increased skin temperature, increased diameter and number of superficial veins, resulting in a series of clinical manifestations of the affected limb. Servelle found that KTS patients almost all existed through venography of the affected limb. Form and extent of deep venous dysplasia, he confirmed through animal experiments that ligation of the puppies of the femoral or iliac veins can increase the hind limbs and increase, so he speculated that the patient's clinical manifestations are closely related to deep venous return disorders, as for deep Venous malformation is the cause of clinical manifestations of KTS and is still a component of KTS and is currently controversial.
(two) pathogenesis
1. Pathological KTS is a clinical syndrome mainly characterized by venous malformation. It mainly involves various types of deep vein malformations. It can occur in the main veins of the upper limbs, lower limbs or pelvis. The lower limbs are the most affected, which is 6 times of the upper limbs. On the bilateral lower limbs or ipsilateral upper and lower limbs, about 1/10 of the lower limbs occur occasionally on one side of the lower limb and the other side of the upper limb. The nature of the lesion may be a section of the main vein dysplasia or occlusion, or it may be fiber Bandage, abnormal muscles, thickened sheath or lymph nodes around the vein, according to Servelle surgery, lower extremity lesions accounted for 50.8% of the iliac vein; superficial femoral vein accounted for 15.7%; iliac vein and femoral vein accounted for 29.4%; iliac vein accounted for 3.4%; inferior vena cava accounted for 0.7%, the characteristics of the iliac vein and femoral vein lesions, mostly due to external compression of the diseased vein trunk (Table 1).
The lesions of the upper extremities were in the iliac vein or iliac vein, of which 15% were dysplasia; 22.5% were occlusion; 62.5% were externally oppressed.
Deep vein venous obstruction causes changes in blood flow disorder of the affected limb, with slow progress, or single stable state with the establishment of collateral circulation; and pathophysiological changes such as blood backflow caused by lack of deep venous valve or hypoplasia With the increase of age, the two kinds of lesions cause long-term congestion of the limbs and persistent venous hypertension, which damages the valve of deep and shallow veins, skin malnutrition in the foot and skin, and sclerosing dermatitis and congestion. Pathophysiological changes, patellofemoral venous lesions, saphenous vein, deep femoral vein, sciatic vein system is the main collateral vein, and the compensatory dilated periorbital vein is connected into a network, and communicates with the pelvic and external veins The collateral circulation is rich, the veins are dilated, the varicose veins are obviously elevated, the iliac vein system is highly congested, and the genital veins and rectal veins of the bladder are affected. In severe cases, bladder, rectal or vaginal bleeding may occur, sometimes due to a large number of Bleeding and life-threatening, according to statistics at home and abroad, the incidence of venous compression is higher, oppression Due to the presence of fibrous cords, thickening of the venous sheath, ectopic arteries and muscle compression, etc., while the vein is being squeezed, the lymphatic vessels associated with the vein may also be affected to varying degrees, causing lymphatic drainage disorder, leading to lymphatic Tube expansion and cystic changes, which is also an important factor in lower extremity edema.
Most patients have varying degrees of cutaneous vasospasm or wine stains. About one-third of patients have flat hemangioma of varying sizes, which are purple-red or purple-black. Lighter people have self-healing tendency. Light, not prominent, no significant changes in skin tissue structure, some patients with hemangioma and the skin of the large varicose veins through the surface, there are sacral protrusions, bleeding is easy to occur when touching, some cases with deep tissue cavernous hemangioma, which Can be scattered in the "venous stones", the affected limbs are more dense than normal, the trabecular bone is thick, the cortical bone is thickened, the periosteum has a proliferative response, due to congestion and dilated veins, hemangioma compression, muscle fiber proliferation or atrophy The affected foot is large, and there may be a giant toe and a toe deformity. The pathological mechanism needs further study.
2. Classification KTS has no unified classification so far.
(1) Schobinger classification: The classification method proposed by Schobinger in 1987 is more representative:
1 no deep vein malformation and arteriovenous fistula;
2 deep venous malformations including venous insufficiency, peripheral tissue compression and valve abnormalities;
3 There is "inactivity, the presence of arteriovenous fistula;
4 Lymphatic malformations include lymphaplasia, lymphoid hyperplasia and lymphatic vein spasm.
(2) Shanghai Second Medical University Classification: Vascular Surgery of the Ninth People's Hospital Affiliated to Shanghai Second Medical University According to years of clinical experience, the above classification method is too general and has little significance for guiding treatment, because KTS is a vein Malformation-based lesions, therefore propose a new classification method:
Type I (venous malformation):
1 deep vein normal, only superficial venous lesions, such as lateral venous malformations;
2 deep venous dysplasia: short vein stenosis or occlusion; deep veins are completely absent;
3 deep venous valve dysplasia or no valve.
Type II (venous malformation with other malformations): In addition to deep vein malformations, it is accompanied by lymphatic malformations, "inactive" arteriovenous fistula, finger or toe deformity, hemangioma, etc.
(3) Wang Jiaci classification: According to the results of lower extremity venography and the related research data, KTS lesions are summarized into four types.
Type I (superficial venous anomaly): mainly manifested as superficial venous malformation, but no abnormal changes in deep veins. In superficial venous lesions, anterior lateral ectopic veins were the main changes, followed by saphenous veins, small saphenous veins and Abnormalities and varices in its branches and traffic veins.
Type IIa (deep vein stenosis type): There may be superficial venous anomalies, but deep vein stenosis is the main lesion. This type is the most common type of venous malformation of bone hypertrophy syndrome, according to statistics, accounting for 55% to 85% of the total incidence. The lesion site is more common in the distal part of the femoral vein.
Type IIb (deep vein obstruction type): There may be superficial venous anomalies, but various obstructions of deep veins are the main lesions, and most of them are congenital segmental defects. If the lesion is extensive dysplasia, you can see There are irregular points in the deep vein walking area, and the blockage is also caused by the surrounding tissue compression.
Type IIc (deep venous valve absent type): There are superficial vein abnormalities, and deep vein patency, dilatation, no valve imaging, no sinus bulge, and deep veins are straight.
Type III (concurrent cavernous hemangioma type): There may be deep and superficial venous malformations, but there is a soft tissue cavernous hemangioma with vasodilatation in the lesion, and the distortion is a mass-like image.
Type IV (combined arterial disease type): All types of arterial malformation complicated with various arterial abnormalities belong to this type, including the absence of arterial trunk, abnormal arterial hyperplasia and arterial ectopic malformation.
Prevention
Congenital venous malformation limb hypertrophy syndrome prevention
Patients should avoid standing for a long time, rest and raise the affected limb properly, promote blood return, reduce swelling of the affected limb, pay attention to keep clean, protect the affected limb, avoid trauma and infection, prevent bleeding, superficial phlebitis and skin ulcers.
Complication
Congenital venous malformation complications of limb hypertrophy syndrome Complications
A small number of patients may have severe rectal bleeding, urinary tract bleeding, female patients may have vaginal bleeding, the cause of bleeding may be pelvic or abdominal hemangioma rupture, more important reason is that the patient's lower extremity abnormal vein will have a large amount of blood Into the internal iliac vein, resulting in pelvic varices, and rupture of bleeding, severe bleeding can even kill.
Symptom
Congenital venous malformation limb hypertrophy syndrome symptoms common symptoms triad varicose varicose horseshoe pedicure venous return disorder giant finger (toe) hip varus sternal spine spina bifida
Generally, there are different degrees of limb malformation at birth, but there is obvious clinical manifestation at night, 75% of patients have symptoms before the age of 10, and a few can be extended to middle age or later. In addition to the typical triad, Often accompanied by a variety of other symptoms and deformities.
1. KTS triad
(1) Hemangioma or vasospasm: This is the earliest symptom. From birth to infancy, purple or deep purple red, flat punctate or flaky intradermal capillary vasospasm may occur, and some patients may have vasospasm. To develop deeper, invade the subcutaneous tissue, muscles, and even into the chest and abdomen, the number and range of vasospasm varies, usually in part of the affected limb, but also throughout the limb, and in severe cases, on the affected limb and trunk. Even extended to the healthy side of the limbs.
(2) Tissue hyperplasia: the soft tissue and cortical bone of the affected limb have hyperplasia, which makes the affected limb thicker and grows. The foot of the affected limb is especially obvious. Under normal circumstances, the circumference of the affected limb is increased by 4 to 5 cm compared with the contralateral side. The increase can be more than 15cm, the length of the affected limb is increased by 3~5cm compared with the contralateral side, and in severe cases, it can be increased by more than 12cm, and the pelvic tilt is obvious. The X-ray film shows the osteocortical hyperplasia of the long bone. The limb hypertrophy can be found at birth. It is most obvious in the end of infants and adolescents. It is generally believed that the growth of limbs is the result of obstruction of venous return. The thickening may be related to lymphatic system lesions. In recent years, studies have found that the limbs of the arteriovenous fistula are thickened in the limbs. It plays an important role in the growth of the disease.
(3) superficial varicose veins: the affected limbs have obvious superficial varices, and their distribution and shape have no certain pattern. They are primary venous dilatation or secondary dilatation caused by venous hypertension, clinically Venous malformation is the most common, which is one of the characteristic manifestations of intrinsic, that is, the superficial vein from the foot to the waist is present on the lateral side of the affected lower limb. This is the "dorsal and ischial venous system" in the fetal period, ie Waist-foot vein, this vein is closed in the second month of fetal formation, but the vein remains open in the child, and finally forms a distinct varicose vein after birth. The superficial varicose vein can be specially The presence of hair may also be a compensatory channel after deep venous return disorder. In patients with iliac vein disease, there may be collateral formation around the knee joint. At the same time, there may be some large lateral extension of the joint surface. Superficial veins, when the superficial venous return disorder, in addition to the saphenous vein compensatory dilatation, there may be a sciatic vein with the sciatic nerve walking, and there is a thick behind the adductor muscle The veins, which flow into the deep veins of the femoral artery and expand, the malformations of the iliac veins can occur alone, or accompanied by the femoral veins, the lesions of the iliac veins, mainly the superficial veins of the varicose veins, and the venous blood of the affected limbs. Introduced into the femoral vein blood of the healthy side, in addition, through the external genital vein to the healthy side, and through the abdominal wall vein into the vein and superior vena cava of the chest wall, the vein on the hip surface often passes through the hip vein and the obturator vein. The internal iliac vein, the middle iliac vein, or directly into the inferior vena cava, some patients with varicose veins may spontaneously rupture or secondary to traumatic bleeding, may also be associated with thrombotic superficial phlebitis.
2. Other symptoms
(1) General lesions: including limb edema, skin atrophy, multiple hernias, dermatitis, pigmentation, ulcer formation, cellulitis and so on.
(2) Lymphatic system lesions: Limbs may have obvious lymphedema, the reasons can be divided into three categories, namely:
1 When the fiber band compresses the deep vein, it also oppresses the accompanying lymphatic vessels;
2 lymphatic developmental malformations;
3 combined with chyle tube variation, leading to abnormal reflux, a small number of patients can occur chylothorax.
(3) Other congenital lesions: including and refers to (toe), multi-finger (toe), giant finger (toe), clubfoot, hip varus, spina bifida, etc.
Examine
Examination of congenital venous malformation limb hypertrophy syndrome
Histological examination showed that the number and diameter of venules in the subcutaneous fat layer increased, the smooth muscle in the subcutaneous vein wall was extensively hypertrophied, and the intima was thickened.
1. X-ray film: X-ray film shows bone hypertrophy, thickened cortical bone, increased density, small medullary cavity; a small number of periosteal hyperplasia, curved bone deformity, limb soft tissue thickening, combined with cavernous hemangioma visible Shadow or veins.
2. Dynamic venous pressure measurement: sputum on the tourniquet, puncture the dorsal vein of the foot to determine the resting erectile pressure, the extent of venous pressure drop after limb movement (post-exercise venous pressure), and the need to resume venous pressure after stopping the exercise Time, to understand the degree of venous blood reflux disorder of the lower extremities, the normal venous pressure should be reduced by >50%, and the venous pressure recovery time is >20s.
3. Venous angiography: Venous angiography includes:
1 deep venous angiography: visible vein dysplasia, stenosis, occlusion, or partial absence of the main vein; venous valve morphology abnormalities, dysfunction, or valve deficiency; superficial vein distortion, dilation, tumor-like changes, deep and shallow vein traffic Insufficient valve function, blood backflow;
2 deep vein retrograde angiography: to understand the degree of blood backflow caused by valvular insufficiency in deep veins;
3 percutaneous iliac vein intubation angiography: Where antegrade angiography shows patency of the iliac vein, you can use this examination method, can not only determine the extent and extent of blood reflux caused by valvular insufficiency, but also antegrade angiography - If the developing part of the femoral vein is unclear, further discriminate whether there is a lesion or a lesion;
4 varicose superficial venography: the path and location of the deep vein into the deep vein can be clarified.
4. Double-function Doppler ultrasonography According to the clinical experience of vascular surgery of the Ninth People's Hospital affiliated to Shanghai Second Medical University, a small number of patients are under pressure due to the main vein. When deep vein venography is found during deep venography, ultrasonography can often be performed. Find or clearly show the condition of the lesion.
5. Angiography or DSA examination of angiography or DSA examination mainly to understand the presence or absence of arteriovenous fistula and other lesions, most patients can find a significant increase in the main branch of the artery, or local contrast agent abnormal concentration, but often no intravenous early development, lesions to The iliac vein, the internal iliac vein and the deep femoral vein are the most common.
6. Lymphatic angiography or radionuclide lymphatic lymphography or radionuclide lymphography can detect lymphatic lesions in the affected limb.
Diagnosis
Diagnosis and diagnosis of congenital venous malformation of limb hypertrophy syndrome
According to the patient's typical triad, it is not difficult to make a diagnosis. Many scholars believe that if the infant finds that one side of the lower limb is too long, the possibility of KTS should be considered. The necessary examination must be carried out, and many special examinations, especially venography. It can provide a reliable basis for judging the nature, location and severity of the lesion, as well as the selection of reasonable treatment methods.
Differential diagnosis
1. Parkes-Weber syndrome (PWS) based on the clinical triad of venous malformation syndrome, also associated with congenital arteriovenous fistula, known as PWS, can be identified by angiography, but also Scholars believe that PWS and venous malformation of bone hypertrophy syndrome are different types of the same disease, so called KTW three syndrome, this issue needs further study.
2. Congenital arteriovenous fistula congenital arteriovenous fistula is also an embryonic vascular dysplasia disease, abnormal communication between arteries and veins, according to the characteristics of the lesions are divided into dry arteriovenous fistula, tumor-like arteriovenous fistula and mixed Three types of arteriovenous fistula, clinical manifestations of superficial varicose veins, dilatation, increased skin temperature, limb thickening, growth, skin ulcers, or aneurysmal lesions, the local vascular stenosis was found to be systolic The main dual-phase murmur accompanied by tremor, angiography showed arterial dilatation, increased, the central artery of the lesion was densely reticular, or the tumor was a mass, or abnormal artery passed to the tumor area, the venous system was advanced development.
3. Lower extremity varicose veins of the great saphenous vein or small saphenous vein trunk and its branch veins are distorted, dilated, and bulged in a mass, standing prominently, few limbs are swollen, painful, may be accompanied by heavy calves, tired, Long-term patients may have edema of the ankle and foot. After rest, they can relieve themselves. Doppler ultrasound and lower extremity venography are used to detect signs of deep vein no blood flow. The valve function is good and the deep vein has no obvious deformity.
4. Inferior vena cava obstruction syndrome deep veins of the lower extremities, pelvic vein thrombosis and spread, or other causes involving the inferior vena cava, causing obstruction of the inferior vena cava, resulting in a series of clinical syndromes, called inferior vena cava obstruction syndrome, The main clinical manifestations are swelling of the lower extremities, superficial varicose veins, and at the same time in the perineum, the superficial veins of the chest and abdomen can be seen to expand or varicose veins. The incidence is slow and slow, and there is no obvious history of limb swelling. Only superficial varices are shown, and primary Deep venous insufficiency of the lower extremities is very similar. Patients with longer course of disease may have skin dystrophic changes in the foot boots, or ulcers that form long-term unhealed. The lesions involve the renal veins to form renal degeneration syndrome; Plus syndrome, venography can confirm the diagnosis, understand the location, type and extent of inferior vena cava obstruction, Doppler ultrasonography can also assist in diagnosis and differential diagnosis.
