Wiskott-Aldrich Syndrome - Essay Example

Wiskott-Aldrich syndrome (WAS) Wiskott-Aldrich syndrome is a special king of immune-deficiency disease that affects the platelets in the blood. WAS disease causes bleeding due to low amounts of platelets and presence of infections together with eczema infection on the skin. WAS patients have recurrent infections as a result of encapsulated organisms (Fleisher and Ludwig, 2010). Most patients suffering from WAS have the tendency of developing malignancies such as leukemia among other autoimmune diseases Mutation of genes produces Wiskott - Aldrich Syndrome Protein which are unique. Therefore, each and every family has a unique WASP mutation among the male children. A patient will have a classic mutation if the mutation is severe resulting in a complete interference with the ability of the genes to produce WAS protein in the body. In contrast, a mild disorder to a patient may occur if the patient produces mutated WAS protein in small quantities. WAS signs and symptoms WAS clinical presentation in patients varies, and some patients may end up presenting all the three classic manifestations which will include immunodeficiency and infection, low levels of platelets, and excessive bleeding. Before, some patients presented low platelets counts, and they were perceived to be suffering from X-linked thrombocytopenia (XLT). Later there was a discovery that XLT and WAS were all caused by mutations making a clinical conclusion that there was presence of different clinical forms of disorder that were similar. Initially WAS was manifested to be present soon after birth of developed in the early years of a child. These signs were related to all the classical clinical traits due to low amounts of platelets, scary rashes on the skin and even eczema caused by underlying immunodeficiency. With profound deficiencies, T-lymphocytes and B-lymphocytes will end up causing classic WAS infection, and this will involve microorganisms. The patient will have respiratory infections in the lungs, and it will affect the otitis media, pneumonia and also sinusitis. If the infections become severe such as sepsis, meningitis and other viral infections become less frequent to the patient. Infrequently, a patient with classic WAS may end up developing pneumonia together with carinii and the skin may also have bacterial infections hence the patient will have intense scratching of the areas affected with eczema. Most patients suffering from classical WAS have eczema, and in infants, it comes with severe diaper rash. Eczema is itchy and may affect a large surface area of the skin; therefore, boys will often scratch themselves and end up bleeding, even when asleep. The skin becomes red in extreme circumstances and a boy will radiate heat hence increase in body temperature. Some patients suffering from WAS have mild eczema while other do not suffer from eczema. Patients, both adults and children have autoimmune manifestations when they suffer from WAS. These are conditions resulting from dysregulation of immunes in the body making the immunes react against the patient’s body. Autoimmune that can be seen in WAS patient include inflamations, especially in the vessels as a result of skin rashes and fever. This autoimmune are usually worsened when the patient undergoes episodes of exercises. Hemolytic anemia is another autoimmune that takes place in patients with WAS. The patient’s antibodies destroy the red blood cells, and this is worsened by low levels of platelets making the antibodies attack few platelets present in the blood. Other patients have a general disorder consisting of high fever. High fever occurs when there are no infections that are associated with lymph glands, inflation of the kidney and gastrointestinal symptoms. Vasculitis, in many circumstances, affects the patient’s muscles and may result in other symptoms. Autoimmune symptoms in a patient may occur in waves over a specific period of time or just for a few days posing difficulties in treating. There is diarrhoea among patients suffering from WAS although it is often characterized poorly (Odze and Goldblum, 2009). Children and adolescents can have malignancies when suffering from WAS, and they usually involve B-lymphocytes; the result may be leukaemia or lymphoma. Diagnosis of WAS WAS causes unusual bleeding in boys during the onset of thrombocytopenia; whenever the patient is realized to have small platelets, the patient should be diagnosed with WAS. Abnormalities of the platelets that are characterized by low numbers of platelets are present in the cord blood of new born babies. One of the simple tests for the diagnosis of WAS is by carrying out platelets count in order to determine their sizes. The physical property seen in platelets affected with WAS is unusual small size of platelets that have immunologic abnormalities. In other boys suffering from WAS, will show low characteristics of serum antibodies and, therefore, the antibodies to blood group antigens will be low. They, therefore, fail to produce antibodies to vaccines that have complex sugars in them; such include vaccination for pneumovax. Skin tests should be conducted in order to assess the T-lymphocyte functions, and if a negative response is witnessed, laboratory test should be conducted although it may end up giving abnormal results. Most patients suffering from WAS produce antibodies but often have impaired response to polysaccharide antigens (Burket, Grenberg, Glick and Ship, 2008). Confirmatory diagnosis for WAS is, therefore, confirmed when there is a demonstrated decrease of WAS protein in the blood, or either presence of mutations in the WASP genes of the patient. Inheritance of WAS WAS is an X-linked recessive disorder that is inherited by boys; therefore, many brothers and uncles transmit the disorder to new born male babies. Family history may have a negative effect on inheritance of WAS and one third of babies born and diagnosed with WAS result from mutations that take place during conception. With knowing WASP mutation in a family, parental DNA diagnosis can be done by obtaining cells through amniocentesis. WAS Treatment Patients suffering from WAS require support from all family members through implementation of a progressive nutrition and therapy processes. There is an increase in loss of blood, and hence it is important to provide the patient with iron to replace the lost blood. During the management of WAS patients, focus is usually put on treating eczema, controlling possible infections and managing bleeding (Porth, 2010). It is necessary to carry out a thorough search of bacteria, virus or fungi if an infection occurs for the purpose of determining an effective antimicrobial treatment for the patient. A patient suffering from bacterial infection will have an abnormal antibody response to a vaccine or an invading microorganism. The patient should undergo prophylactic administration of immunoglobin therapy, especially for patients with low platelets. Injection with subcutaneous immunoglobin may cause a patient to bleed excessively; therefore, the best option is immunoglobin therapy. Immunoglobin replacement therapy is suitable for a patient who has undergone surgery to remove the spleen. Excessive bathing for patients with WAS should be avoided in order to prevent the skin from drying hence reduce eczema condition. The patient should, therefore, use bath oil and a moisturizing cream more often in a day to dry parts of the body. It is also helpful to apply steroid creams especially in areas of chronic inflammation. Strong steroid creams are not recommended for the face including foods that increase eczema in the body. A patient having a low platelet count in the body may undergo platelet transfusion in some situations. For instance, a patient with serious bleeding, who cannot be stopped by various conservative measures, platelet transfusions is a better option. A surgery to remove the spleen has been done to several patients suffering from WAS and corrects the low platelet count in the blood. Splenectomy can be an effective method for controlling thrombocytopenia in a WAS patient with a low amount of platelets. Once a patient has undergone a surgery to remove the spleen, immunoglobin at a high dose is recommended to increase the number of platelets in the patient. Removal of the spleen makes the patient susceptible to blood infections such as meningitis; therefore, the patient should be placed under prophylactic antibiotics, and immunoglobin replacement therapy on a lifelong basis to prevent infections. Autoimmune disease symptoms require drugs that suppress the patient’s immune system and the best solution for these is the use of immunoglobin replacement therapy. Children suffering from T- and B-lymphocytes should not be given live virus vaccines based on the fact that vaccine strain of a specific virus may result in a disease. Bone marrow transplant with a combination of liver transplant has been successful in curing patients with WAS (Burns, Breathnach and Cox, 2010). Conducting cord blood cell transplant or bone marrow transplant is the only permanent solution for WAS disease because T-lymphocytes are necessary for the stabilization of the patient who is to undergo the transplant. Moreover, cord blood stem cells has proved to be successful for reconstruction of immunes and correcting abnormalities of the platelets. This method is relevant for a matched sibling or when unrelated donor is not found. Despite WAS being a serious disease with complications that are life threatening, many patients have gone through puberty to become adults and have lived to produce children of their own. There are patients, as old as thirty that seem to be cured of WAS and have not developed malignancies and other autoimmune diseases. References Burket L.W., Grenberg Martin S, Glick, M. and Ship, J. A. (2008) Burket’s Oral Medicine. Ontario: BC Decker Inc. Burns, T., Breathnach, S. and Cox, N. (2010). Rook’s Textbook of Dermatology. Oxford: Wiley. Fleisher, G. R. and Ludwig, S. (2010). Textbook of Pediatric Emergency Medicine. New York: Wolters Kluwer Health. Odze R. D, and Goldblum.John R. (2009). Surgical Pathology of the GiTrack, Liver, Biliary Track and Pancreases. Philadlphia: Saunders Elservier. Porth C. M. (2010) Essentials of Pathophysiology Concepts of Altered Health States. Philadelphia: Wolters Kluwer Health. Read More