What Is Hyperostosis?

Vascular hypertrophy syndrome, also known as Klippel-Trenaunay syndrome (KTS), is a complex congenital vascular dysplasia. Clinically, it is characterized by triads such as deep and / or superficial venous malformations, cutaneous hemangioma (mole), and excessive growth of bones and soft tissues. A few patients may be accompanied by cavernous hemangioma of the soft tissue of the limbs and hemangioma of the internal organs, and individual patients may be complicated by arterial disease.

Basic Information

nickname

Klippel-Trenaunay syndrome

English name

angio-osteohypertrophy syndrome

Visiting department

dermatology

Common symptoms

Hemangiomas or vascular malformations, thickening and growth of the affected limb, superficial varicose veins of the affected limb, etc.

Causes of vascular hypertrophy syndrome

The etiology of this disease is unclear. Recently, sporadic gene mutations were found, located at 5q13.3, and no familial inheritance has been proven. At present, the more representative hypothesis is that the mesoderm develops abnormally. During the embryonic development of the germ, the degradation of the embryo's blood vessels is delayed, resulting in increased blood flow to the affected limb, increased skin temperature, and increased superficial vein diameter and number. Causes a series of clinical manifestations of the affected limb. Servelle found that almost all patients with KTS had some form and degree of deep vein dysplasia through venography of the affected limb. He confirmed through animal experiments that ligation of the femoral or popliteal veins in puppies can make the hind limbs thicker and larger. The clinical manifestations of patients are closely related to deep vein reflux disorders. As to whether deep vein malformations are the cause of KTS clinical manifestations or are part of KTS, it is still controversial.

Clinical manifestations of vascular hypertrophy syndrome

Generally, there are different degrees of limb deformity at birth, but obvious clinical manifestations occur later. 75% of patients develop symptoms before the age of 10, and a few can extend to middle age or later. In addition to the typical triad, patients often have a variety of other symptoms and deformities.

1. KTS triad

(1) Hemangioma or vascular malformation This is the earliest symptom. From birth to infancy, purple red or deep purple red, flat dots or flakes of capillary abnormalities can occur (red nevus or telangiectasia). . In some patients, vascular malformations can develop deeper, invading subcutaneous tissues, muscles, and even into the chest and abdomen. The number and range of vascular malformations are different. Generally, it is part of the affected limb, and it can also be spread throughout the entire limb. In severe cases, it is covered with the affected limb and trunk, and even extends to the contralateral limb.

(2) Tissue hyperplasia The soft tissue and bone cortex of the affected limb are all hyperplasia, making the affected limb thicker and larger, especially the feet of the affected limb. In general, the circumference of the affected limb is increased by 4 to 5 cm compared with the contralateral side, and it can be increased by more than 15 cm in severe cases. The length of the affected limb can be increased by 3 to 5 cm compared with the contralateral side. In severe cases, it can be increased by more than 12 cm. The radiograph showed hyperplasia of the long bone. Hypertrophy of the limbs can be found at birth, and is most pronounced at the end of infancy and adolescence. It is generally believed that the growth of the limb is the result of blocked venous return, and the thickening may be related to the pathological changes of the lymphatic system. Recent studies have found that microarteriovenous fistula of the limb plays an important role in the process of thickening and growing of the limb.

(3) There are obvious superficial varicose veins in the affected limbs of venous malformations , and their distribution and appearance do not have a certain pattern. They are primary venous dilatation or retrograde expansion caused by venous hypertension. Clinically, "lateral venous malformations" are the most common. This is one of the characteristic manifestations of the trait, that is, the superficial veins from the feet to the waist varicose appear on the outside of the affected lower limb. This is the "dorsal and sciatic bone" of the fetal period. Venous system ", the lumbar-foot vein. Normally, the vein is closed in the second month of fetal formation, but it remains open in the child, and an obvious varicose vein is formed after birth. Superficial varicose veins can be idiopathic, or they can be compensatory channels after deep venous reflux disorders. For patients with iliac vein disease, collaterals may be formed around the knee joint. At the same time, the medial great saphenous varicose veins may also have some thick superficial veins that extend to the joint surface. When the superficial femoral vein is obstructed, in addition to the compensatory dilatation of the great saphenous vein, a sciatic vein accompanied by the sciatic nerve walking may appear. At the same time, there is a thick vein behind the adductor muscle, which merges into the deep femoral vein and Make it expand. Malformation of the iliac vein can occur alone or accompanied by lesions of the femoral and iliac veins. The superficial veins of the varicose veins are mainly visible on the pubic bone, and the venous blood of the affected limb is introduced into the femoral vein blood on the healthy side. In addition, it also flows to the healthy side through the external genital vein, and flows into the veins of the chest wall and the superior vena cava via the abdominal wall veins. The veins on the surface of the hip often pass through the gluteal vein and the obturator vein and flow into the internal iliac vein, middle iliac vein, or directly into the inferior vena cava. In some patients, varicose veins may rupture spontaneously or cause bleeding after trauma, and may also be accompanied by superficial thrombophlebitis.

2. Other symptoms

(1) General lesions include limb edema, skin atrophy, multiple warts, dermatitis, hyperpigmentation, ulcer formation, cellulitis, etc.

(2) Lymphatic diseased limbs may have obvious lymphedema, and the causes can be divided into three categories, namely: the fibrous band also compresses the accompanying lymphatic vessels when compressing the deep veins; malformations of the lymphatic vessels; combined with chyle The tube mutates, causing abnormal reflux. Chylothorax can occur in a small number of patients.

(3) Other congenital lesions include conjunctival (toe), multi-finger (toe), giant finger (toe), horseshoe varus, hip inversion, spina bifida, etc.

Vascular hypertrophy syndrome examination

1.X-ray plain film

X-rays showed hypertrophy of bones, thickening of cortical bone, increased density, and smaller medullary cavity; a few had periosteal hyperplasia, skeletal deformities and thickened soft tissues of the limbs. Complicated with cavernous hemangioma, shadows or venous stones are visible.

2.Dynamic venous pressure measurement

Apply a tourniquet on the ankle, puncture the dorsal foot vein to measure the resting upright venous pressure, determine the venous pressure drop after exercise (venous pressure after exercise), and the time required for venous pressure to recover after stopping exercise to understand the lower extremity venous blood The degree of reflux disorders, the normal venous pressure drop should be> 50%, and the venous pressure recovery time> 20 seconds.

3. Venography

Venous angiography includes deep venous antegrade angiography showing abnormal venous running, stenosis, occlusion, or partial absence of the main vein; venous valve morphology is abnormal, insufficiency, or valve is absent; superficial veins are tortuous, dilated, and tumor-like. Deep and shallow vein communication branch valve dysfunction and blood reflux; Deep vein retrograde angiography can understand the degree of blood reflux caused by venous insufficiency of deep vein; Percutaneous iliac vein intubation angiography shows that the iliac vein is unobstructed, This test method can be used to determine the scope and extent of blood reflux caused by valve insufficiency, and to identify the presence or absence of lesions in the iliac-femoral vein segment during antegrade angiography. ; The superficial venous venography can clarify the path and location of the lateral malformed vein injected into the deep vein.

4. Doppler ultrasound

In a few patients due to the compression of the main vein, when deep vein imaging is found to be poor during deep venography, ultrasound examination can often detect or clearly show the condition of the lesion.

5. Arteriography or DSA

Arteriography or DSA examination mainly understands the presence or absence of arteriovenous fistula and other lesions. Most patients can find a significant increase in the main branches of the arteries, or abnormally concentrated local contrast agents, but often without early vein development. The most common lesions were iliac vein, internal iliac vein and deep femoral vein.

6. Lymphography or radionuclide lymph scan

Lymphography or radionuclide lymphography can detect lymphatic lesions in the affected limb.

Diagnosis of vascular hypertrophy syndrome

It is not difficult to make a diagnosis based on the patient's typical triad. Many scholars believe that if infants and toddlers find that one side of the lower limb is too long, the possibility of KTS should be considered and necessary inspections must be performed. Many special examinations, especially venography, can provide a reliable basis for judging the nature, location and severity of lesions, and selecting reasonable treatment methods.

Treatment of vascular hypertrophy syndrome

There are currently no specific treatments. Given that this disease is a benign disease process, cases with severe symptoms and consequences are rare, so symptomatic and degenerative treatments are mainly used.

Non-surgical treatment

Patients whose complaint symptoms are not obvious, slight varicose veins of the limbs are slight, the skin has only limited wine stains, epidermal vascular malformations, and patients with a limb length difference of <1cm may not be treated specially. If the limb length difference is more than 1.5cm, you can use a high-heeled heel to avoid secondary scoliosis caused by long-term claudication.

Regardless of the severity of the disease, patients with superficial varicose veins were first diagnosed with elastic fabrics to bind the affected limbs. This method can compress varicose veins, improve venous congestion and venous hypertension, reduce swelling and heaviness in the lower limbs, and prevent the occurrence of thrombotic superphlebitis or the formation of congestive ulcers. For those with arteriovenous fistula, the arteriovenous shunt can be reduced, thereby reducing the amount of blood returned to the heart and reducing the load on the heart. For patients with cavernous hemangioma, it can reduce congestion in the tumor cavity, reduce the pressure in the tumor cavity, and slow the development and spread of the tumor. The use of stretch fabrics in patients before or after surgery can also be used as an adjunct to surgery. In the application of elastic fabrics should pay attention to moderate elasticity, too loose will not be effective. Too tight sometimes worsens the condition, especially for patients with a lack of deep veins.

For patients with superficial varicose veins without arteriovenous fistula, the affected limb can be appropriately raised and intermittently treated with a venous return pump.

2. Surgical treatment

The surgical treatment of this disease is a reduction operation, and only some patients can improve the symptoms through surgery, so it is necessary to choose carefully and strictly grasp the indications for surgery.

3. Minimally invasive interventional therapy

Interventional treatment can be used for patients with obvious vascular and lymphatic malformations.