A Family Guide to Non-Oncologic Blood Disorders
Leukocyte Adhesion Deficiency
What is Leukocyte adhesion deficiency? Leukocyte Adhesion Deficiency (LAD) is an inherited disease in which white blood cells (leukocytes) and the cells that line the inside of the blood vessels do not have the ability to correctly look for and respond to infection or inflammation that may be casused by a deficiency in these cells. There are three types of LAD syndromes that have been de- fined by the unique molecule(s) that are deficient. In all three types, the white blood cell (leukocyte) cannot easily get to a site of infection or inflammation in the tissue. • LAD I: Infection fighting cells (neutrophils) cannot respond to infection because they can’t leave the blood circulation when needed • LAD II: Presence of a defect in a cell that does not allow it to go to areas of inflammation • LAD III: Similar to Type I, but also gives the body the inability to clot as it should What are some symptoms of LAD? Symptoms of LAD often develop after an initial infection within the first year of life. The following are the most common symp- toms of LAD. However each child may experience symptoms differently. Symptoms may include: • Type I » » Delayed separation of the umbilical cord » » Recurrent, often severe skin and lung infections caused by certain bacteria » » Wounds that take a long time to heal or do not heal completely • Type II » » Less severe infections » » Flattened nasal bridge, small stature, and/or severe mental impairment • Type III » » Same as Type I » » Bleeding problems
How is LAD diagnosed? A diagnosis of LAD is usually made during the first year of life based on the following: • Complete medical history and family history • Physical examination of your child • Specific blood tests as determined by your medical team • Specific diagnostic tests may be taken of certain areas of the body, including the lungs, to evaluate for infec- tion. The medical team will explain which tests may be needed. What tests or procedures will my child need? • Complete blood count test to look at white blood cells, red blood cells, and platelets • Specific genetic blood tests to look at your child’s ge- netic information. These are not always performed. • Certain types of images may be required to evaluate for the presence of an infection. How is LAD treated? Treatment of LAD depends on the type and on how severe the symptoms are. Mild to moderate disease often responds to antibiotics. Common treatments for severe disease include: • Measures to prevent infection from occurring • Management of bacterial infections with antibiotics • Granulocyte colony stimulating factor (a medication given to stimulate the production of white blood cells) • Stem cell transplant (SCT) Your medical team will determine the best treatment plan for your child. How successful is the treatment? SCT is recommended within the first year of life as a curative option for the disease. SCT is very successful for severe Type I and all Type III patients who have a matched donor. LAD Type II tends to respond well to the treatment of infections as well as measures to prevent further infection. As the immune system becomes more fully developed, the frequency of infection decreases.
Leukocyte Adhesion Deficiency
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