3 Alamanas St,
2nd Floor
Maroussi 15125
Athens, Greece
Information for Patients
Vascular Anomalies are mostly caused by gene mutations, i.e. changes in the DNA. Most of the time these changes are present in the affected tissues only, thereby not increasing the risk of future progeny or other family members being affected. They are broadly divided into vascular tumors and malformations, according to the classification of the International Society for the Study of Vascular Anomalies- ISSVA (issva.org).
Management is multi-disciplinary, which depends on the underlying diagnosis and location of the lesion.
Many of these conditions can be associated with bleeding or clotting abnormalities. Further, they may employ similar molecular pathways as cancers, leading to growth, which renders them amenable to medical treatments that cancer patients receive.
We present examples of blood disorders and vascular anomalies that we treat.
Conditions
Benign Hematology
Hemangiomas
Vascular Malformations
Anemia: anemias refer to the reduction of hemoglobin/hematocrit and are very common reasons for consulting Hematologists. Based on the size of the red blood cells they are categorized into microcytic, macrocytic and normocytic. Etiology of microcytosis includes iron deficiency (often due to diet or chronic blood loss or malabsorption), hemoglobinopathies, sideroblastic anemia, lead poisoning. Normocytic causes include hemolytic processes, acute and chronic diseases or acute bleeding. Macrocytic etiologies may be related to deficiencies of various vitamins, exposure to certain medications or to serious diseases of the bone marrow. Obtaining the correct diagnosis requires further blood tests and sometimes a bone marrow aspiration and biopsy. Treatment depends on the underlying diagnosis. Thrombocytopenia: refers to the reduction of platelets, i.e. of the cells that lead to blood clot formation. The causes are broadly divided into production disorders (eg infection, aplastic anemia or cancer), sequestration in organs (eg enlarged liver or spleen) or destruction (immune thrombocytopenic purpura or ITP). ITP is a fairly common autoimmune disease in children, often associated with exposure to a virus or pharmaceutical agent and may be acute or chronic. The diagnosis remains one of exclusion. Treatment is indicated in cases of bleeding but also depending on the degree of severity of thrombocytopenia, recognizing that treatment does not lead to cure. Common treatments include gammaglobulins, corticosteroids. Neutropenia is defined as a decrease in the type of white blood cells called neutrophils to under 1500 cells per microliter of blood, although it becomes clinically significant at a count of less than 1000 cells per microliter of blood. Neutrophils form an important part of the immune system and protect against bacterial infections. Many diseases are associated with neutropenia, as well as exposure to infections and various medications. Bone marrow conditions (leukemia, aplastic anemia), as well as the destruction of neutrophils through an autoimmune mechanism (similar to idiopathic thrombocytopenia above) are possible causes. Treatment depends on the cause. Rapid assessment of the patient in case of fever above 38 degrees Celsius (over 100.4 F) is very important as his/her ability to fight infection is compromised.
Infantile hemangioma: remains the most common vascular anomaly and is a benign (non-cancerous) tumor. It can appear on the first day of life but is usually observed and develops in the first weeks of the infant's life. Although most of the time it does not cause problems and tends to regress on its own after the first year of life, depending on its location it can cause complications that need to be treated. Oral beta-blocker use is commonly used, but may be supplemented by surgical excision and interventional radiology depending on the individual characteristics. Congenital hemangioma: unlike infantile hemangioma, the lesion has reached its maximum size by the time of birth. After the first six months of life the lesion may begin to decline or remain stable. While typically not a cause for concern, this type of hemangioma also requires monitoring due to possible rupture and bleeding. Medications are not effective and surgical excision may be needed when the child is older, mainly for cosmetic reasons. Kaposiform Hemangioendothelioma (KHE): is a rare disease where the blood vessels in an area of the body become engorged and lead to the trapping of platelets and fibrinogen resulting in a high risk of bleeding. This is an emergency and treatment must be immediate and includes corticosteroids and immunosuppressants. Early diagnosis is of the utmost importance.
Vascular Malformations consist of Venous, Arterial, Capillary, Lymphatic and various combinations thereof, while various syndromes (such as PTEN, Klippel-Trenaunay) may coexist. Diagnoses remain mainly clinical and are supported by imaging findings. Treatment is usually multi-modal and chronic. It may include interventional radiology with the injection of a sclerosing agent into the affected vessels, the use of oral medications (inhibitors of genetic mutations associated with the diagnosis such as sirolimus, alpelisib), surgical excision if feasible or a combination of these. The conditions are chronic, and various combinations of treatment may be used over time. Long term follow-up of each patient by expert doctors of various specialties remains particularly important. The treating team underscores the need to support patients as they manage co-morbidities, both physical and psychological.
Areas of expertise
Anemias
Disorders of white blood cells
Thrombocytosis
Thrombocytopenia
Bleeding Predisposition
Thrombophilia
Vascular Malformations