IDF Patient & Family Handbook for Primary Immunodeficiency ... - IDFA

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40 Wiskott-Aldrich Syndrome Treatment of Wiskott-Aldrich Syndrome All children with serious chronic illness need the support of the parents and family. The demands on the parents of boys with WAS and the decisions they have to make may be overwhelming. Progress in nutrition and antimicrobial therapy, prophylactic use of immunoglobulin replacement therapy and bone marrow transplantation have significantly improved the life expectancy of patients with WAS. Due to increased blood loss, iron deficiency anemia is common and iron supplementation is often necessary. When there are symptoms of infection, a thorough search for bacterial, viral and fungal infections is necessary to determine the most effective antimicrobial treatment. Since patients with WAS have abnormal antibody responses to vaccines and to invading microorganisms, the prophylactic administration of immunoglobulin replacement therapy may be indicated for those patients who suffer from frequent bacterial infections. It should be noted that if the patient has low platelet counts, most physicians would prescribe intravenous immunoglobulin therapy because the injection of subcutaneous immunoglobulin may cause bleeding. Immunoglobulin replacement therapy is particularly important if the patient has been treated with splenectomy (surgical removal of the spleen). The eczema can be severe and persistent, requiring constant care. Excessive bathing should be avoided because frequent baths can cause drying of the skin and make the eczema worse. Bath oils should be used during the bath and a moisturizing cream should be applied after bathing, and several times daily to areas of dry skin/eczema. Steroid creams applied sparingly to areas of chronic inflammation are often helpful but their overuse should be avoided. Do not use strong steroid creams, e.g. fluorinated steroids, on the face. If certain foods make the eczema worse and if known food allergies exist, attempts should be made to remove the offending food items. Platelet transfusions may be used in some situations to treat the low platelet count and bleeding. For example, if serious bleeding cannot be stopped by conservative measures, platelet transfusions are indicated. Hemorrhages into the brain usually require immediate platelet transfusions. Surgical removal of the spleen (a lymphoid organ in the abdomen that “filters the blood”) has been performed in WAS patients and has been shown to correct the low platelet count, or thrombocytopenia, in over 90% of the cases. Splenectomy does not cure the other features of WAS and should only be used to control thrombocytopenia in patients with particularly low platelet counts. The ability of high dose immunoglobulin replacement therapy to raise the platelet count in WAS boys has been shown to improve considerably once the spleen has been removed. Removal of the spleen increases the susceptibility of WAS patients to certain infections, especially infections of the blood stream and meningitis caused by encapsulated bacteria like S pneumonae or H influenzae. If splenectomy is used, it is imperative that the child be placed on prophylactic antibiotics and possibly immunoglobulin replacement therapy, potentially, for the rest of their lives to prevent these serious infections. The symptoms of autoimmune diseases may require treatment with drugs that further suppress the patient’s immune system. High dose immunoglobulin replacement therapy and systemic steroids may correct the problem and it is important that the steroid dose be reduced to the lowest level that will control symptoms as soon as possible. As with all children with primary immunodeficiency diseases involving T-lymphocytes and/or B-lymphocytes, boys with WAS should not receive live virus vaccines since there is a possibility that a vaccine strain of the virus may cause disease. Complications of chicken pox infection occur occasionally and may be prevented by early treatment following exposure with antiviral drugs, high dose immunoglobulin replacement therapy or Herpes Zoster Hyper Immune Serum.
Wiskott-Aldrich Syndrome 41 Treatment of Wiskott-Aldrich Syndrome continued The only “permanent cure” for WAS is bone marrow transplantation or cord blood stem cell transplantation (see chapter titled Specific Medical Therapy) and the search for an HLA-matched donor should be undertaken as soon as the diagnosis of WAS has been established. Because patients with WAS have some residual T-lymphocyte function in spite of their immunodeficiency, immunosuppressive drugs and/or total body irradiation are required to “condition” the patient before transplantation. If the affected boy has healthy siblings with the same parents, the entire family should be tissue typed to determine whether there is an HLA-identical sibling (a good tissue match) who could serve as bone marrow transplant donor. The results with HLA-identical sibling donor bone marrow transplantation in WAS are excellent with an overall success (cure) rate of 80-90%. This procedure is the treatment of choice for boys with significant clinical findings of the WAS. The decision to perform an HLA-matched sibling bone marrow transplant in patients with milder clinical forms, such as isolated thrombocytopenia, is more difficult and should be discussed with an experienced immunologist. Success with matched-unrelated donor (MUD) transplants has improved substantially over the past two decades. Fully matched-unrelated donor transplants are now almost as successful as matched sibling transplants if they are performed while the patient is under 5-6 years of age and before they have acquired a significant complication such as severe viral infections or cancer. The success rate of fully matched-unrelated donor transplants decreases with age making the decision to transplant teenagers or adults with WAS difficult. Cord blood stem cells, fully or partially matched, have successfully been used for immune reconstitution and the correction of platelet abnormalities in a few WAS patients and may be considered if a matched sibling or fully matched unrelated donor is not available. In contrast to the excellent outcome of HLA-matched transplants, haploidentical bone marrow transplantation (the use of a parent as a donor) has been much less successful than are HLA-matched transplants. Expectations for Wiskott-Aldrich Syndrome Patients Three decades ago, the classic Wiskott-Aldrich syndrome was one of the most severe primary immunodeficiency disorders with a life expectancy of only 2-3 years. Although it remains a serious disease in which life-threatening complications may occur, many affected males go through puberty and enter adulthood, live productive lives and have families of their own. The oldest bone marrow transplanted patients are now in their twenties and thirties and seem to be cured, without developing malignancies or autoimmune diseases.
Page 1 and 2: Patient & Family Handbook For Prima
Page 3 and 4: Patient & Family Handbook For Prima
Page 5 and 6: Patient and Family Handbook i Prefa
Page 7 and 8: Patient and Family Handbook iii Abo
Page 9 and 10: The Immune System and Primary Immun
Page 11 and 12: The Immune System And Primary Immun
Page 19 and 20: Common Variable Immune Deficiency c
Page 21 and 22: Common Variable Immune Deficiency 1
Page 23 and 24: X-Linked Agammaglobulinemia chapter
Page 25 and 26: X-Linked Agammaglobulinemia 17 Clin
Page 27 and 28: Selective IgA Deficiency chapter 4
Page 29 and 30: Selective IgA Deficiency 21 Clinica
Page 31 and 32: Severe Combined Immunodeficiency ch
Page 33 and 34: Severe Combined Immunodeficiency 25
Page 39 and 40: Chronic Granulomatous Disease 31 De
Page 41 and 42: Chronic Granulomatous Disease 33 Di
Page 43 and 44: Chronic Granulomatous Disease 35 Tr
Page 45 and 46: Wiskott-Aldrich Syndrome 37 Definit
Page 47: Wiskott-Aldrich Syndrome 39 Maligna
Page 51 and 52: Hyper IgM Syndrome 43 Definition of
Page 53 and 54: Hyper IgM Syndrome 45 Treatment of
Page 55 and 56: DiGeorge Syndrome 47 Definition of
Page 57 and 58: DiGeorge Syndrome 49 Therapy for Di
Page 59 and 60: IgG Subclass Deficiency and Specifi
Page 61 and 62: IgG Subclass Deficiency and Specifi
Page 63 and 64: Ataxia Telangiectasia 55 Definition
Page 65 and 66: Ataxia Telangiectasia 57 General Tr
Page 67 and 68: Hyper IgE Syndrome 59 Definition of
Page 69 and 70: Hyper IgE Syndrome 61 Inheritance o
Page 71 and 72: Complement Deficiencies 63 Definiti
Page 73 and 74: Complement Deficiencies 65 Treatmen
Page 75 and 76: Other Important Primary Immunodefic
Page 77 and 78: Other Important Primary Immunodefic
Page 79 and 80: Inheritance chapter 15 Many disease
Page 81 and 82: Inheritance 73 Types of Inheritance
Page 83 and 84: Inheritance 75 Types of Inheritance
Page 85 and 86: Inheritance 77 Reproductive Options
Page 87 and 88: Laboratory Tests chapter 16 Laborat
Page 89 and 90: Laboratory Tests 81 Major Categorie
Page 91 and 92: Laboratory Tests 83 Summary Laborat
Page 93 and 94: General Care 85 General Health Meas
Page 95 and 96: General Care 87 Exercise Participat
Page 97 and 98: General Care 89 General Care During
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General Care 91 General Care During
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Specific Medical Therapy 93 Introdu
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Specific Medical Therapy 95 General
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Specific Medical Therapy 97 Hematop
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Specific Medical Therapy 99 Granulo
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Specific Medical Therapy 101 PEG-AD
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Specific Medical Therapy 103 Gene T
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Infants and Children with Primary I
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Adolescents with Primary Immunodefi
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Adults with Primary Immunodeficienc
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Health Insurance chapter 22 Having
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Health Insurance 127 Who Are the
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Health Insurance 133 LIFETIME MAXIM
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Glossary 135 Gamma globulins: The p
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Glossary 137 Sepsis: An infection o
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Reference 139 NIH Clinical Trials w
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Reference 141 International Patient
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Reference 143 Manufacturing Compani
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Reference 145 Books For Youth Balkw
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