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

More documents

Recommendations

Info

34 Chronic Granulomatous Disease Treatment of Chronic Granulomatous Disease A mainstay of therapy is the early diagnosis of infection and prompt, aggressive use of appropriate antibiotics. Initial therapy with antibiotics aimed at the most likely offending organisms may be necessary while waiting for results of cultures. A careful search for the cause of infection is important so that sensitivity of the microorganism to antibiotics can be determined. Intravenous antibiotics are usually necessary for treating serious infections in CGD patients and clinical improvement may not be obvious for a number of days in spite of treatment with the appropriate antibiotics. In the past, granulocyte transfusions have been used for some CGD patients when aggressive antibiotic therapy fails and the infection is life-threatening. Fortunately, this is not commonly needed any more because of the availability of newer, more potent antibacterial and antifungal antibiotics. Some patients with CGD have such frequent infections, especially as young children, that continuous daily administered oral antibiotics (prophylaxis) are often recommended. CGD patients who receive prophylactic antibiotics may have infection-free periods and prolonged intervals between serious infections. The most effective antibiotic to prevent bacterial infection in CGD is a formulation of the combination of trimethoprim and sulfamethoxasole, sometimes also called co-trimazole or under the trade names, Bactrim or Septra. This reduces frequency of bacterial infection by almost 70%. It is a safe and effective agent for CGD patients because it provides coverage for most of the bacterial pathogens that cause infection in CGD, but does not have much effect on normal bowel flora, leaving most of the normal protective bacterial ecology of the gut in place. The other important thing about co-trimazole prophylaxis is that it does not seem to wane in its effectiveness. This is because the bacteria that it protects against in CGD are not normally found in patients except in the setting of an actual infection. So, the antibiotic does not usually cause the organisms it is protecting against to become resistant. A natural product of the immune system, gamma interferon, is also used to treat patients with CGD to boost their immune system. Patients with CGD who are treated with gamma interferon have been shown to have more than 70% fewer infections, and when infections do occur, they may be less serious (see chapter titled Specific Medical Therapy). CGD patients are not deficient in gamma interferon, and gamma interferon is not a cure for CGD. It augments immunity in a number of general ways that partially compensate for the defect in hydrogen peroxide production. Gamma interferon may have side effects such as causing fever, nightmares, fatigue and problems with concentration. Antipyretics such as ibuprofren may help. Some patients choose not to take gamma interferon because they do not like injections, because of the cost or because they have unacceptable side effects. There is some evidence that even doses of gamma interferon lower than the standard recommendation may provide some protection against infection. Due to this, a number of experts in the field have suggested that patients, who decide not to take gamma interferon for any of the above reasons, should at least first consider trying lower or less frequent dosing. In particular, side effects are usually dose dependent and may be decreased or eliminated by lowering the dose of gamma interferon which will likely still provide infection prophylaxis even at the lower dose or frequency of administration. More recently it has been demonstrated that daily doses of the oral antifungal agent, Itraconazole, can reduce the frequency of fungal infections in CGD. Maximum infection prophylaxis for CGD involves treatment with daily oral doses of cotrimazole and itraconazole together, plus three times weekly injections of gamma interferon. On this regimen, the average rate of infection in CGD patients drops to an average of one severe infection approximately every four years. Of course individual genetic factors and chance result in some CGD patients having more frequent infections while others have infections even less frequently than every four years.
Chronic Granulomatous Disease 35 Treatment of Chronic Granulomatous Disease (continued) CGD can be cured by successful bone marrow transplant, but most CGD patients do not seek this option. This may be because they lack a fully tissue matched normal sibling, or because they are doing well enough with conventional therapy that it is inappropriate to assume the risks associated with transplantation. But it is important for that subset of CGD patients who do have constant problems with life threatening infections to know that bone marrow transplantation could be a treatment option. Gene therapy is not yet an option to cure CGD. However, some laboratories are working on this new therapy and gene therapy might be an option in the future. Many physicians suggest that swimming should be confined to well chlorinated pools. Fresh water lakes in particular and even salt water swimming may expose patients to organisms which are not virulent (or infectious) for normal swimmers but may be infectious for CGD patients. Aspergillus is present in many samples of marijuana, so CGD patients should be discouraged from smoking marijuana. A major risk to CGD patients is the handling of garden mulch (shredded moldy tree bark); this type of exposure is the cause of a grave and life-threatening form of full lung acute inhalation Aspergillus pneumonia. Households with CGD patients should never use garden mulch at all if possible and CGD patients should remain indoors during its application in neighboring yards. Once the mulch is settled firmly on the ground and is not being spread or raked, it is much less of a danger to CGD patients. Patients should also avoid turning manure or compost piles, repotting house plants, cleaning cellars or garages, performing demolition for construction, dusty conditions, and spoiled or moldy grass and hay (including avoiding “hay rides”). Since early treatment of infections is very important, patients are urged to consult their physicians about even minor infections. Expectations for the Chronic Granulomatous Disease Patient The quality of life for many patients with Chronic Granulomatous Disease (CGD) has improved remarkably with knowledge of the phagocytic cell abnormality and appreciation of the need for early, aggressive antibiotic therapy when infections occur. Remarkable improvements in morbidity and mortality have occurred in the last 20 years. The great majority of CGD children can expect to live into adulthood, and many adult CGD patients hold responsible jobs, get married and have children. However, most CGD patients remain at significant risk for infections and must take their prophylaxis and be vigilant to seek early diagnosis and treatment for possible infection. Recurrent hospitalization may be required in CGD patients since multiple tests are often necessary to locate the exact site and cause of infections, and intravenous antibiotics are usually needed for treatment of serious infections. Disease-free intervals are increased by prophylactic antibiotics and treatment with gamma interferon. Serious infections tend to occur less frequently when patients reach their teenage years. Again it must be emphasized that many patients with CGD complete high school, attend college, and are carrying on relatively normal lives.
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: Chronic Granulomatous Disease 33 Di
Page 45 and 46: Wiskott-Aldrich Syndrome 37 Definit
Page 47 and 48: Wiskott-Aldrich Syndrome 39 Maligna
Page 49 and 50: Wiskott-Aldrich Syndrome 41 Treatme
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
Page 99 and 100:
General Care 91 General Care During
Page 101 and 102:
Specific Medical Therapy 93 Introdu
Page 103 and 104:
Specific Medical Therapy 95 General
Page 105 and 106:
Specific Medical Therapy 97 Hematop
Page 107 and 108:
Specific Medical Therapy 99 Granulo
Page 109 and 110:
Specific Medical Therapy 101 PEG-AD
Page 111 and 112:
Specific Medical Therapy 103 Gene T
Page 113 and 114:
Infants and Children with Primary I
Page 115 and 116:
Page 117 and 118:
Page 119 and 120:
Adolescents with Primary Immunodefi
Page 121 and 122:
Page 123 and 124:
Page 125 and 126:
Page 127 and 128:
Adults with Primary Immunodeficienc
Page 129 and 130:
Page 131 and 132:
Page 133 and 134:
Health Insurance chapter 22 Having
Page 135 and 136:
Health Insurance 127 Who Are the
Page 137 and 138:
Page 139 and 140:
Page 141 and 142:
Health Insurance 133 LIFETIME MAXIM
Page 143 and 144:
Glossary 135 Gamma globulins: The p
Page 145 and 146:
Glossary 137 Sepsis: An infection o
Page 147 and 148:
Reference 139 NIH Clinical Trials w
Page 149 and 150:
Reference 141 International Patient
Page 151 and 152:
Reference 143 Manufacturing Compani
Page 153 and 154:
Reference 145 Books For Youth Balkw
Page 156:
This publication has been made poss
show all

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

Create successful ePaper yourself

Delete template?

Save as template?