Rare vascular venous syndromes

What are vascular venous syndromes

Vascular syndromes involve concomitant association of several abnormalities of embryonic development of the body, the frequency of certain congenital defects being reunited in the form of a syndrome.

What are the causes of the disease

The appearance of developmental abnormalities is dictated by the presence of genetic mutations, genes that are responsible for the proper development and differentiation of various organs and systems in the body. Mutations can affect both sexes equally and occur more frequently as a result of gene translocation at different points on the chromosomal “arms.”

What are and how are rare vascular venous syndromes

1. Klippel-Trenaunay syndrome is considered to be a rare congenital malformation due to the defect in the formation in the uterine period of the lymphatic and blood vessels. The studied cases frequently include the association of several developmental anomalies such as:

• Avalvula (congenital lack of venous valves);
• Venous aneurysms;
• Absence of deep venous trunks - deep venous atresia.

Angioosteohypertrophy, as the syndrome is named, can be recognized due to the following clinical triad: malformations of the venous capillaries called "Porto wine stain", bone hypertrophy and soft tissue of the limbs (more often with unilateral inferior development). and varicose veins in the hypertrophied limb.

2. Parks-Weber syndrome is similar and is often associated with Klippel-Trenaunay abnormalities, the difference being the additional presence of arteriovenous shingles (abnormal communications between the venous and arterial system), which implies a different evolution and approach to the disease. The presence of arteriovenous lesions may cause symptoms specific to acute heart failure, in addition to other clinical manifestations: valvular incompetence with venous stasis and edema, varicose veins, skin changes "Porto wine stain" (skin colouration that does not extend and does not regress due to the progression of the disease).

3. Maffucci syndrome is manifested by a bone development disorder and skin vascular abnormalities. The mutation of the gene that dictates the enzymatic production of isocitrate dehydrogenase occurs in the early embryonic period and causes the appearance of:

• abnormal cartilaginous tissue inside the bones (especially in the lower limbs but can also be found in the skull, spine, rib cage) which is manifested by bone deformities, shortening of the limbs and the appearance of pathological fractures;
• cutaneous hemangiomas (a conglomeration of subcutaneous blood capillaries that give the skin a purple colour); Occasionally, people diagnosed with Maffucci syndrome may also have developmental abnormalities of the lymphatic vessels - lymphangiomas.

People with congenital malformations specific to Maffucci syndrome have an increased risk of developing chondrosarcoma (a disease of excess cartilaginous tissue), especially in the skull, or other types of ovarian or liver cancer. In the absence of malignant complications, patients have a limited limitation of daily activities (depending on the severity of skeletal abnormalities) and have a normal life expectancy.

What is the treatment for venous malformations

Treatment for congenital venous syndromes depends on the severity of the symptoms and is mainly represented by surgery for vascular malformations: embolization (in case of obstruction due to intravascular thrombi), use of venous stents (which maintain lumen permeability within the affected vein), removal surgical correction of abnormal arteriovenous joints.

It is possible that the attending physician considers useful the orthopaedic surgical correction of the bone malformations in the extremities, or of the cardiac area by methods of cardiovascular surgery. In the case of these syndromes is necessary a multidisciplinary evaluation of the patient. Capillary malformations - wine stains generally do not benefit from surgical correction, except in cases where they become painful or if the patient requires a "cosmetic" treatment that improves physical appearance.

Other preventative measures are aimed at preventing the occurrence of venous complications of the disease and include the use of elastic restraint, improving lifestyle and avoiding trauma to the affected vascular bed.