Blood/Lymphatic System

Cerebral Hypoxia

Cerebral hypoxia refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow. Cerebral anoxia refers to a complete lack of oxygen to the brain.

Conditions that can lead to cerebral hypoxia include:

  • Drowning
  • Strangling
  • Choking
  • Suffocation
  • Cardiac arrest
  • Head trauma
  • Carbon monoxide poisoning
  • Complications of general anesthesia

Symptoms of mild cerebral hypoxia include:

  • Inattentiveness
  • Poor judgment
  • Memory loss
  • A decrease in motor coordination

Brain cells are extremely sensitive to oxygen deprivation and can begin to die within five minutes after oxygen supply has been cut off. When hypoxia lasts for longer periods of time, it can cause coma, seizures, and even brain death. In brain death, there is no measurable activity in the brain, although cardiovascular function is preserved. Life support is required for respiration.

Treatment depends on the underlying cause of the hypoxia, but basic life-support systems have to be put in place: mechanical ventilation to secure the airway; fluids, blood products, or medications to support blood pressure and heart rate; and medications to suppress seizures.

Recovery depends on how long the brain has been deprived of oxygen and how much brain damage has occurred, although carbon monoxide poisoning can cause brain damage days to weeks after the event. Most people who make a full recovery have only been briefly unconscious. The longer someone is unconscious, the higher the chances of death or brain death and the lower the chances of a meaningful recovery. During recovery, psychological and neurological abnormalities such as amnesia, personality regression, hallucinations, memory loss, and muscle spasms and twitches may appear, persist, and then resolve.

Lymphedema

Lymphedema is the build-up of fluid in soft body tissues when the lymph system is damaged or blocked. Lymphedema usually affects an arm or leg, but it can also affect other parts of the body. Lymphedema can cause long-term physical, psychological, and social problems for patients.

When the lymph system is working as it should, lymph flows through the body and is returned to the bloodstream. When part of the lymph system is damaged or blocked, fluid cannot drain from nearby body tissues. Fluid builds up in the tissues and causes swelling.

There are two types of lymphedema:

  • Primary lymphedema is caused by the abnormal development of the lymph system. Symptoms may occur at birth or later in life.
  • Secondary lymphedema is caused by damage to the lymph system. The lymph system may be damaged or blocked by infection, injury, cancer, removal of lymph nodes, radiation to the affected area, or scar tissue from radiation therapy or surgery.

The two types of primary lymphedema are idiopathic (unknown cause) and hereditary. Hereditary lymphedema is caused by either an autosomal dominant or recessive inheritance. It can be associated with syndromes as well. The most common form of primary congenital lymphedema is lymphedema praecox, or Milroy’s Disease. It is a hereditary from of lymphedema with autosomal dominant inheritance. All patients with lymphedema should be evaluated by a genetic counselor.

Scientists are closer to establishing the genetic basis for these disorders. Some mutations in the vascular endothelial growth factor receptor (VEGFR3) have been found and others are being investigated.

Congenital lymphedema, which is the rarest form of primary lymphedema, appears early in life. It generally involves more than one limb, but rarely extends above the knee. Swelling enlarges at a slower rate than body growth. It becomes less pronounced with age, and only supportive therapy is required in two-thirds of cases. The remaining one-third of patients have a poor prognosis and frequently require surgical interventions.

Lymphedema praecox, which is the most common form of primary lymphedema, is seen mostly in females. It occurs in late childhood and adolescence, and swelling usually begins concurrently with a growth spurt. It extends to the groin and is sometimes associated with skin and nail changes. A significant increase in swelling may occur over time, resulting in limbs that are markedly enlarged.

Other conditions may cause the same symptoms as lymphedema. A doctor should be consulted if any of the following problems occur:

  • Swelling of an arm or leg, which may include fingers and toes.
  • A full or heavy feeling in an arm or leg.
  • A tight feeling in the skin.
  • Trouble moving a joint in the arm or leg.
  • Thickening of the skin, with or without skin changes such as blisters or warts.
  • A feeling of tightness when wearing clothing, shoes, bracelets, watches, or rings.
  • Itching of the legs or toes.
  • A burning feeling in the legs.
  • Trouble sleeping.
  • Loss of hair.

These symptoms may occur very slowly over time or more quickly if there is an infection or injury to the arm or leg. Daily activities and the ability to work or enjoy hobbies may be affected by lymphedema.

Lymphedema can occur after any cancer or treatment that affects the flow of lymph through the lymph nodes, such as removal of lymph nodes. It may develop within days or many years after treatment. Most lymphedema develops within three years of surgery.

Taking preventive steps may keep lymphedema from developing. The chance of improving the condition is better if treatment begins early. Untreated lymphedema can lead to problems that cannot be reversed. If lymphedema has developed, these steps may keep it from getting worse:

  • Keep skin and nails clean and cared for, to prevent infection.
  • Avoid blocking the flow of fluids through the body. It is important to keep body fluids moving, especially through an affected limb or in areas where lymphedema may develop.
    • Do not cross legs while sitting.
    • Change sitting position at least every 30 minutes.
    • Wear only loose jewelry and clothes without tight bands or elastic.
    • Do not carry handbags on the arm with lymphedema.
    • Do not use a blood pressure cuff on the arm with lymphedema.
    • Do not use elastic bandages or stockings with tight bands.
  • Keep blood from pooling in the affected limb.
    • Keep the limb with lymphedema raised higher than the heart when possible.
    • Do not swing the limb quickly in circles or let the limb hang down. This makes blood and fluid collect in the lower part of the arm or leg.
    • Do not apply heat to the limb.

Damage to the lymph system cannot be repaired. The goal of treatment is to control the swelling, help patients continue with activities of daily living, decrease pain, and improve the ability to move and use the limb (arm or leg) with lymphedema. Drugs are not usually used for long-term treatment of lymphedema.

Treatment of lymphedema may include the following:

  • Pressure garments
  • Exercise – Talk with a certified lymphedema therapist before beginning exercise.
  • Skin care – to prevent infection and to keep skin from drying and cracking.
  • Massage therapy
  • Compression device – pumps connected to a sleeve that wraps around the arm or leg and applies pressure on and off.
  • Weight loss
  • Laser therapy
  • Drug therapy – Antibiotics may be used to treat and prevent infections.
  • Surgery – Lymphedema caused by cancer is rarely treated with surgery.

When lymphedema is severe and does not get better with treatment, other problems may be the cause.

Von Willebrand Disease

Von Willebrand disease (VWD) is a bleeding disorder. It affects your blood’s ability to clot. If your blood doesn’t clot, you can have heavy, hard-to-stop bleeding after an injury. The bleeding can damage your internal organs or even cause death, although this is rare.

In VWD, you either have low levels of a certain protein in your blood, or the protein doesn’t work the way it should. The protein is called von Willebrand factor, and it helps the blood clot.

Normally, when one of your blood vessels is injured, you start to bleed. Small blood cell fragments called platelets clump together to plug the hole in the blood vessel and stop the bleeding. Von Willebrand factor acts like glue to help the platelets stick together and form a blood clot.

Von Willebrand factor also carries clotting factor VIII, another important protein that helps your blood clot. Factor VIII is the protein that’s inactive or missing in people who have hemophilia, another clotting disorder.

VWD is more common and usually milder than hemophilia. In fact, VWD is the most common of all the inherited bleeding disorders. It occurs in about 1 out of every 100 to 1,000 people. VWD affects both males and females, while hemophilia mainly affects males.

There are three major types of VWD:

  • Type 1 – You have a low level of von Willebrand factor, and you may have lower than normal levels of factor VIII. This is the mildest and most common form of VWD. About 3 out of 4 people who have VWD have type 1.
  • Type 2 – The von Willebrand factor doesn’t work the way it should. Type 2 is divided into subtypes: 2A, 2B, 2M, and 2N. Different gene mutations cause each type, and each is treated differently. So it’s important to know the exact type of VWD that you have.
  • Type 3 – You usually have no von Willebrand factor and low levels of factor VIII. Type 3 is the most serious form of VWD, but it’s very rare.

Most people who have VWD have type 1, a mild form. This type usually doesn’t cause life-threatening bleeding. You may need treatment only if you have surgery, tooth extraction, or trauma. If you need treatment, medicines and medical therapies are used.

For women with heavy menstrual bleeding, the combined oral contraceptive pill may be effective in reducing bleeding or in reducing the length or frequency of periods.

Some people who have severe forms of VWD need emergency treatment to stop bleeding before it becomes life threatening. Early diagnosis is important. With the right treatment plan, even people who have type 3 VWD can live normal, active lives.

Tangier Disease

Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body’s tissues to the liver, where they are removed from the blood.

Tangier disease is caused by mutations in the ABCA1 gene. These mutations prevent the release of cholesterol and phospholipids from cells. As a result, these substances accumulate within cells, causing certain body tissues to enlarge and the tonsils to acquire a yellowish-orange color. A buildup of cholesterol can be toxic to cells, leading to impaired cell function or cell death. In addition, the inability to transport cholesterol and phospholipids out of cells results in very low HDL levels, which increases the risk of cardiovascular disease.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Tangier disease is a rare disorder with approximately 100 cases identified worldwide. It is usually noted in childhood and can range from very mild to severe.

Signs and symptoms of Tangier disease include:

  • Very low levels of HDL
  • A slightly elevated amount of fat in the blood (mild hypertriglyceridemia)
  • Disturbances in nerve function (neuropathy)
  • Enlarged, orange-colored tonsils
  • Enlarged spleen (splenomegaly)
  • Enlarged liver (hepatomegaly)
  • Clouding of the clear covering of the eye (corneal clouding)
  • Type 2 diabetes

HDL is often referred to as “good cholesterol” because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease.

Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries.

Because of the rarity of this disease, there are currently no treatments available for this condition. Surgeries may be necessary based upon the symptoms experienced by the individual.