Most patients with Recessive Dystrophic Epidermolysis Bullosa are also Anemic. Anemia in EB is caused by many factors and can become very severe if not treated.

 

Anemia means not having enough red cells and hemoglobin. This can occur because they're not produced, or are being lost and destroyed. Anemia can lead to low oxygen levels, which can lead to damage to organs, including the heart.

 

There are three types of Anemia that effect EB patients. They are Iron Deficiency, Chronic Inflammatory and Nutritional.

Causes of Anemia in EB patients:

• Blood and iron loss from wounds - Obviously with so many wounds there is blood loss and fluid loss which can worsen anemia.
  
• Chronic infection/inflammation - Because of chronic infections there is inflammation. Inflammation inhibits red cell production and diverts iron  away from the bone marrow to the liver and spleen.
  
• Problems absorbing iron - Due to the effects EB has on the gastrointestinal tract.
  
• Malnutrition/Malabsorbtion of nutrients - such as B-complex vitamins, B12, B6, vitamin C, vitamin E, vitamin K, folic acid, zinc, copper and selenium which are all needed for cell formation. Due to the effects EB has on the gastrointestinal tract, nutrients are not easily absorbed.
  
• Loss of transferrin and other proteins through wounds - Iron is transported by a protein called transferrin. Non-transferrin bound iron, known as free iron, is very toxic and can cause low blood pressure, nausea, rash, facial reddening and eventually may cause heart failure and other damage. Iron is stored in a part on a protein called ferritin.

Symptoms of Anemia

Pale skin color, weakness, decreased appetite, fatigue, shortness of breath, rapid heartbeat, palpitation, headache, irritability, lethargy, dizziness, weight loss, lowered immunity, depression, slow healing, bruising.

What to Check

First a complete blood count (CBC) must be taken. It is important to check levels regularly. A CBC checks the White cells (WBC), Red cells (RBC), Hemoglobin (Hb), Hematocrit (HCT), Mean cell volume (MVC), Mean cell hemoglobin (MCH), Differential (percent of different kinds of white cells), Platelets, and Retic count (new red cells). Also check the Sedimentation rate (ESR) for a crude measure of inflammation. And check the Iron Status (iron, iron binding/transferrin saturation, ferritin)

Signs of Anemia

• Low hematocrit(HCT) - Low hematocrit may indicate Anemia, malnutrition and blood loss among other things.
• Low Hemoglobin (Hb) (Hgb) - The average hemoglobin level in adult women is 12.1 to 15.1 and in adult men it's 13.8 to 17.2. Although it is often considerably lower in RDEB patients. I myself have dropped to a 4 hemoglobin once. I am usually around an 8 hemoglobin but some EB patients can get up to normal levels with proper treatment.
• Small red blood cells
• Low serum ferritin (serum iron) level - The serum ferritin level is directly proportional to the amount of iron stored in the body.
• High iron binding capacity (TIBC) in the blood

Treatments

• Inflammation Reducing Supplements - To improve the ability to absorb nutrients, a supplement can be taken to help heal and reduce inflammation in the digestive tract.
• Eat Healthy - Those with Anemia should eat foods high in iron and other nutrients. 
• Oral iron supplements - Oral iron can be taken, however in EB the degree of deficiency is too great for it to have much effect. Oral iron can also cause constipation. A good alternative would be an herbal iron supplement (an all natural supplement that contains herbs known to be high in iron).
• Supplemental vitamins - Some important vitamins to take are:
  ~Vitamin B12 (100mg/day + other B complex)
  ~Folic Acid (1mg/day)
  ~Vitamin E  (400 - 800 U/day)
  ~Vitamin C (30mg/kg/day)
  ~Vitamin K (1-5mg/day)
  
  Vitamins come in chewable, powder and liquid which makes it easier for EB patients to swallow. Keep in mind that whole food vitamins absorb better than regular vitamins.

Wound care and Treatment of infection   

 

It is extremely important to take care of all wounds and treat any infection as best you can to reduce inflammation.If the above methods do not work, or if the patient is already severely anemic the following treatments can be done:

• Intravenous iron - IV iron can help a lot and is more effective when also paired with EPO shots. Frequency of iron infusions depends on how severe the anemia is. Iron must be infused slowly and a test dose is always given first to monitor any allergic reactions. Getting IV iron is an easy procedure and usually takes a couple hours. Please ask your doctor about the risks and benefits of IV iron.
• Erythropoietin (EPO) shots - Erythropoietin is a naturally occurring hormone, produced by the kidneys, which stimulates the body to produce more red blood cells. It is generally given as an injection under the skin. It usually needs to be given one to three times a week. Common names for EPO shots are Aranesp (Darbepoetin Alfa), Procrit (Epoetin Alfa). Please ask your doctor about the risks and benefits of Epo shots.
• Blood Transfusion - If the iron and epo are not effective, a blood transfusion is another option. This is another simple procedure that takes a few hours. Please ask your doctor about the risks and benefits of blood transfusions.

Terms and Definitions