telangiectasia

Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include:

• Ataxia - trouble coordinating movements
• Poor balance
• Slurred speech
• Tiny, red spider veins, called telangiectasias, on the skin and eyes
• Lung infections
• Delayed physical and sexual development

People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence.

A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins.

NIH: National Institute of Neurological Disorders and Stroke

Arteriovenous malformations (AVMs) are defects in your vascular system. Your vascular system is your body's network of blood vessels. It includes your:

• Arteries, which carry oxygen-rich blood from your heart to your tissues and organs.
• Veins, which carry the blood and waste products back to your heart.
• Capillaries, which are tiny blood vessels that connect your small arteries to your small veins.

An AVM is an abnormal tangle of arteries and veins. They are connected to each other, with no capillaries between them. Without the capillaries, the blood flow from the arteries goes directly into the veins at a faster rate than normal. Because of this, the nearby tissue does not get all the oxygen it would normally get. This lack of oxygen can lead to tissue damage and the death of nerve cells and other cells. The fast rate of blood flow can also increase the blood pressure inside the arteries and veins. This can weaken the arteries and veins. A weakened artery or blood vessel could burst or leak blood.

AVMs are rare. The cause of AVMs is unknown. Most of the time, people are born with them. But sometimes they can appear shortly after birth or later in life.

The symptoms of AVM will depend on where the AVM is located. They can happen anywhere in the body, but they are more common in the brain or spinal cord. Most people with brain or spinal cord AVMs have few, if any, major symptoms. But if a weakened blood vessel bursts, it can spill blood into the brain (called a hemorrhage). Severe hemorrhages can cause a stroke and brain damage.

If an AVM is causing symptoms, they can include:

• Seizures
• Headache
• Pain in the area where the AVM is located
• Vision problems
• Muscle weakness
• Problems with movement and speech
• Confusion
• Dizziness
• Loss of consciousness

To find out if you have an AVM, your health care provider:

• Will ask about your symptoms and medical history.
• Will do a physical exam. This may include listening for a bruit. A bruit is whooshing sound caused by the rapid blood flow through the arteries and veins of an AVM.
• May order imaging tests, such as a CT scan, MRI, ultrasound, or cerebral angiography. For a cerebral angiography, you are injected with a special dye that helps the blood vessels in your brain show up on x-rays.

Treatments for AVMs will depend on factors such as:

• Where the AVM is located
• Its size
• Your symptoms
• Your overall health
• Your risk of bleeding

The treatment options may include:

• Monitoring for any signs that may mean you have an increased risk of hemorrhage.
• Medicines to help with the symptoms from AVMs.
• Surgery, which may be done if you have a higher-than-usual risk of bleeding. There are a few different types of surgery for AVMs. In some cases, you may have more than one type. Surgery can be risky, especially when it's done on the brain or spinal cord. So you and your provider will need to discuss the risks and benefits of doing the surgery before you make a decision.

NIH: National Institute of Neurological Disorders and Stroke

Varicose veins are swollen, twisted veins that you can see just under the skin. They usually occur in the legs, but also can form in other parts of the body. Hemorrhoids are a type of varicose vein.

Your veins have one-way valves that help keep blood flowing toward your heart. If the valves are weak or damaged, blood can back up and pool in your veins. This causes the veins to swell, which can lead to varicose veins.

Varicose veins are very common. You are more at risk if you are older, are female, have obesity, don't exercise, or have a family history of varicose veins. They can also be more common in pregnancy.

Doctors often diagnose varicose veins from a physical exam. Sometimes you may need additional tests.

Exercising, losing weight, elevating your legs when resting, and not crossing them when sitting can help keep varicose veins from getting worse. Wearing loose clothing and avoiding long periods of standing can also help. If varicose veins are painful or you don't like the way they look, your doctor may recommend procedures to remove them.

NIH: National Heart, Lung, and Blood Institute

Normally, if you get hurt, your body forms a blood clot to stop the bleeding. For blood to clot, your body needs cells called platelets and proteins known as clotting factors. If you have a bleeding disorder, you either do not have enough platelets or clotting factors or they don't work the way they should.

Bleeding disorders can be the result of other diseases, such as severe liver disease or a lack of vitamin K. They can also be inherited. Hemophilia is an inherited bleeding disorder. Bleeding disorders can also be a side effect of medicines such as blood thinners.

Various blood tests can check for a bleeding disorder. You will also have a physical exam and history. Treatments depend on the cause. They may include medicines and transfusions of blood, platelets, or clotting factor.

Leukemia is a term for cancers of the blood cells. Leukemia starts in blood-forming tissues such as the bone marrow. Your bone marrow makes the cells which will develop into white blood cells, red blood cells, and platelets. Each type of cell has a different job:

• White blood cells help your body fight infection
• Red blood cells deliver oxygen from your lungs to your tissues and organs
• Platelets help form clots to stop bleeding

When you have leukemia, your bone marrow makes large numbers of abnormal cells. This problem most often happens with white blood cells. These abnormal cells build up in your bone marrow and blood. They crowd out the healthy blood cells and make it hard for your cells and blood to do their work.

There are different types of leukemia. Some types are acute (fast growing). They usually get worse quickly if they are not treated. Most childhood leukemias are acute:

• Acute lymphocytic leukemia (ALL), which is the most common type of leukemia in children and the most common cancer in children. In ALL, the bone marrow makes too many lymphocytes, a type of white blood cell.
• Acute myeloid leukemia (AML), which happens when bone marrow makes abnormal myeloblasts (a type of white blood cell), red blood cells, or platelets.

Other types of leukemia are chronic (slow growing). They usually get worse over a longer period of time. They are rare in children:

• Chronic lymphocytic leukemia (CLL), in which the bone marrow makes abnormal lymphocytes (a type of white blood cell). It is more common in teens than children.
• Chronic myeloid leukemia (CML), in which the bone marrow makes abnormal granulocytes (a type of white blood cell). It is very rare in children.

There are some other rare types of leukemia in children, including juvenile myelomonocytic leukemia (JMML).

Leukemia happens when there are changes in the genetic material (DNA) in bone marrow cells. The cause of these genetic changes is unknown. However, there are certain factors that raise the risk of childhood leukemia.

The factors that raise the risk of childhood leukemia include:

• Having a brother or sister, especially a twin, with leukemia
• Past treatment with chemotherapy
• Exposure to radiation, including radiation therapy
• Having certain genetic conditions, such as
  • Ataxia telangiectasia
  • Down syndrome
  • Fanconi anemia
  • Li-Fraumeni syndrome
  • Neurofibromatosis type 1

There are other factors that may raise the risk of getting one or more of the specific types of childhood leukemia.

Some of the symptoms of leukemia may include:

• Feeling tired
• Fever or night sweats
• Easy bruising or bleeding
• Weight loss or loss of appetite
• Petechiae, which are tiny red dots under the skin. They are caused by bleeding.

Other leukemia symptoms can be different from type to type. Chronic leukemia may not cause symptoms at first.

Your health care provider may use many tools to diagnose leukemia:

• A physical exam
• A medical history
• Blood tests, such as a complete blood count (CBC)
• Bone marrow tests. There are two main types - bone marrow aspiration and bone marrow biopsy. Both tests involve removing a sample of bone marrow and bone. The samples are sent to a lab for testing.
• Genetic tests to look for gene and chromosome changes

Once there is a diagnosis of leukemia, other tests may be done to see whether the cancer has spread. These include imaging tests and a lumbar puncture, which is a procedure to collect and test cerebrospinal fluid (CSF).

The treatments for leukemia depend on which type it is, how severe the leukemia is, the child's age, and other factors. Possible treatments might include:

• chemotherapy
• radiation therapy
• Chemotherapy with stem cell transplant
• Targeted therapy, which uses drugs or other substances that attack specific cancer cells with less harm to normal cells

Treatment for childhood leukemia is often successful. But the treatments can cause complications right away or later in life. Children who survived leukemia will need follow-up care the rest of their lives to watch for and treat any complications they may have.

NIH: National Cancer Institute

Your vascular system is your body's network of blood vessels. It includes your:

• Arteries, which carry oxygen-rich blood from your heart to your tissues and organs
• Veins, which carry the blood and waste products back to your heart
• Capillaries, which are tiny blood vessels that connect your small arteries to your small veins. The walls of the capillaries are thin and leaky, to allow for an exchange of materials between your tissues and blood.

Vascular diseases are conditions which affect your vascular system. They are common and can be serious. Some types include:

• Aneurysm - a bulge or "ballooning" in the wall of an artery
• Atherosclerosis - a disease in which plaque builds up inside your arteries. Plaque is made up of fat, cholesterol, calcium, and other substances found in the blood.
• Blood clots, including deep vein thrombosis and pulmonary embolism
• Coronary artery disease and carotid artery disease, diseases that involve the narrowing or blockage of an artery. The cause is usually a buildup of plaque.
• Raynaud phenomenon - a disorder that causes the blood vessels to narrow when you are cold or feeling stressed
• Stroke - a serious condition that happens when blood flow to your brain stops.
• Varicose veins - swollen, twisted veins that you can see just under the skin
• Vasculitis - inflammation of the blood vessels

The causes of vascular diseases depend on the specific disease. These causes include:

• Genetics
• Heart diseases such as high cholesterol and high blood pressure
• Infection
• Injury
• Medicines, including hormones

Sometimes the cause is unknown.

The risk factors for vascular diseases can vary, depending on the specific disease. But some of the more common risk factors include:

• Age - your risk of some diseases goes up as you get older
• Conditions that can affect the heart and blood vessels, such as diabetes or high cholesterol
• Family history of vascular or heart diseases
• Infection or injury that damages your veins
• Lack of exercise
• Obesity
• Pregnancy
• Sitting or standing still for long periods of time
• Smoking

The symptoms for each disease are different.

To make a diagnosis, your health care provider will do a physical exam and ask about your symptoms and medical history. You may have imaging tests and/or blood tests.

Which treatment you get depends on which vascular disease you have and how severe it is. Types of treatments for vascular diseases include:

• Lifestyle changes, such as eating a heart-healthy diet and getting more exercise
• Medicines, such as blood pressure medicines, blood thinners, cholesterol medicines, and clot-dissolving drugs. In some cases, providers use a catheter to send medicine directly to a blood vessel.
• Non-surgical procedures, such as angioplasty, stenting, and vein ablation
• Surgery

There are steps you can take to help prevent vascular diseases:

• Make healthy lifestyle changes, such as eating a heart-healthy diet and getting more exercise
• Don't smoke. If you are already a smoker, talk to your health care provider for help in finding the best way for you to quit.
• Keep your blood pressure and cholesterol in check
• If you have diabetes, control your blood sugar
• Try not to sit or stand for up long periods of time. If you do need to sit all day, get up and move around every hour or so. If you are traveling on a long trip, you can also wear compression stockings and regularly stretch your legs.

When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. Problems with the cerebellum include:

• Cancer
• Genetic disorders
• Ataxias - failure of muscle control in the arms and legs that result in movement disorders
• Degeneration - disorders caused by brain cells decreasing in size or wasting away

Treatment of cerebellar disorders depends on the cause. In some cases, there is no cure but treatment may help with symptoms.

NIH: National Institute of Neurological Disorders and Stroke

Movement disorders are neurologic conditions that cause problems with movement, such as:

• Increased movement that can be voluntary (intentional) or involuntary (unintended)
• Decreased or slow voluntary movement

There are many different movement disorders. Some of the more common types include:

• Ataxia, the loss of muscle coordination
• Dystonia, in which involuntary contractions of your muscles cause twisting and repetitive movements. The movements can be painful.
• Huntington's disease, an inherited disease that causes nerve cells in certain parts of the brain to waste away. This includes the nerve cells that help to control voluntary movement.
• Parkinson's disease, which is disorder that slowly gets worse over time. It causes tremors, slowness of movement, and trouble walking.
• Tourette syndrome, a condition which causes people to make sudden twitches, movements, or sounds (tics)
• Tremor and essential tremor, which cause involuntary trembling or shaking movements. The movements may be in one or more parts of your body.

Causes of movement disorders include:

• Genetics
• Infections
• Medicines
• Damage to the brain, spinal cord, or peripheral nerves
• Metabolic disorders
• Stroke and vascular diseases
• Toxins

Treatment varies by disorder. Medicines can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.