Pediatric Wiskott-Aldrich Syndrome Follow-up
- Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD more...
Further Outpatient Care
See Medical Care.
Further Inpatient Care
In general, admit a patient with Wiskott-Aldrich syndrome (WAS) with bleeding or pulmonary infection because the extent of bleeding may be difficult to ascertain or bleeding may be difficult to control.
Similarly, infections such as pneumonia may be accompanied by sepsis or require respiratory support; inpatient management is usually wise.
The patient's risk for bleeding and the presence of any chronic illness complicate diagnosis and treatment of malignancies.
Inpatient & Outpatient Medications
See Medical Care.
Because any primary immunodeficiency disease is associated with a great complexity of medical problems, most clinical immunologists strongly think an immunologist should manage these patients. High early mortality rates and a high rate of complications in Wiskott-Aldrich syndrome suggest frequent monitoring by a clinical immunologist is essential.
Transfers are most likely to a bone marrow transplantation unit for stem cell reconstitution. These units customarily provide social services and psychological support for the patient and family in addition to the requisite medical care.
Families carrying known mutations in the WASP gene should have prenatal diagnosis using mutation analysis. Identifying an affected infant in utero allows consideration of caesarian delivery to avoid bleeding at birth. Most importantly, prenatal diagnosis allows consideration of early stem cell reconstitution and identification of a donor as early as possible.
A critical point to remember is that platelet count alone does not establish the diagnosis of Wiskott-Aldrich syndrome in all infants; mean platelet volume (MPV) must be assessed. Immune functions may not show a classic pattern, making input from a clinical immunologist essential for accurate identification. In some cases, only determination of DNA mutational analysis allows discrimination among Wiskott-Aldrich syndrome, the more minor disorder of X-linked thrombocytopenia, and a non–Wiskott-Aldrich syndrome diagnosis.
Complications from bleeding and infection now have decreased because of better recognition and prompt intervention. Most immune cytopenias can also be treated effectively.
Chronic renal disease has become better recognized and must be considered, especially in an older child or young adult with a history of hematuria accompanying acute (often viral) infections.
Malignancies respond poorly to conventional therapy, and bone marrow transplantation in the presence of malignancy has failed.
Complications from bone marrow and other stem cell reconstitution procedures are a significant problem. These complications, largely because of graft versus host disease (GVHD), include infections resulting from immune dysfunction related to GVHD, chronic dermatitis, chronic pulmonary disease, and neurologic impairment. GVHD-related disorders are well-recognized problems in patients with Wiskott-Aldrich syndrome. Minor issues after successful reconstitution have included donor-transmitted allergic rhinitis and even such changes as obesity. These minor problems can cause significant emotional turmoil for both patient and donor.
About one fourth of patients who do not receive stem cell reconstitution die from bleeding, another fourth from malignancies, and the remaining 50% from infections. Average age of surviving patients with Wiskott-Aldrich syndrome in 1994 was 11 years, whereas death during the 1960s occurred within 4 years. More recent studies show average age of survival to be around 15 years. Autoimmune disease is a poor prognosis factor in these patients and should be treated promptly.
The outlook for successfully transplanted patients is much more optimistic; the first patient to receive complete immunologic reconstitution after a 1968 bone marrow transplantation still survives without immunologic or clinical abnormalities.
As with any patient who has an immune deficiency, the patient and family must seek immediate medical care at the slightest indication of an infection. This issue is critical for the splenectomized patient with Wiskott-Aldrich syndrome who has a high risk of dying from overwhelming postsplenectomy sepsis, usually caused by S pneumoniae infection. Bleeding (eg, epistaxis, into joints, progressive hematomas) must be recognized and treated. Patient and family must be made aware of the risk for complications, including specific autoimmune disorders and malignancies.
An important resource for education and support for patients and families with any primary immunodeficiency disease is the Immune Deficiency Foundation (some states have local chapters).
Immune Deficiency Foundation
25 W Chesapeake Ave, Suite 206
Towson, MD 21204
Consultation calls: 1-877-666-0866
The Jeffrey Modell Foundation also provides educational support and raises funds for research.
The Jeffrey Modell Foundation
747 3rd Avenue
New York, NY 10017
For patient education resources, see the Skin, Hair, and Nails Center, as well as Eczema.
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|Brand(Manufacturer)||Manufacturing Process||pH||Additives (IVIG products containing sucrose are more often associated with renal dysfunction, acute renal failure, and osmotic nephrosis, particularly with preexisting risk factors [eg, history of renal insufficiency, diabetes mellitus, age >65 y, dehydration, sepsis, paraproteinemia, nephrotoxic drugs].)||Parenteral Form and Final Concentrations||IgA Content mcg/mL|
|Kistler-Nitschmann fractionation; pH 4 incubation, nanofiltration||6.4-6.8||6% solution: 10% sucrose, < 20 mg NaCl/g protein||Lyophilized powder 3%, 6%, 9%, 12%||Trace|
|Cohn-Oncley fractionation, PEG precipitation, ion-exchange chromatography, pasteurization||5.1-6||Sucrose free, contains 5% D-sorbitol||Liquid 5%||< 50|
|Gammagard Liquid 10%
|Cohn-Oncley cold ethanol fractionation, cation and anion exchange chromatography, solvent detergent treated, nanofiltration, low pH incubation||4.6-5.1||0.25M glycine||Ready-for-use Liquid 10%||37|
|Cohn-Oncley fractionation, caprylate-chromatography purification, cloth and depth filtration, low pH incubation||4-4.5||Contains no sugar, contains glycine||Liquid 10%||46|
|Solvent/detergent treatment targeted to enveloped viruses; virus filtration using Pall Ultipor to remove small viruses including nonenveloped viruses; low pH incubation||4.8-5.1||Contains sorbitol (40 mg/mL); do not administer if fructose intolerant||Ready-for-use solution 5%||< 10|
|Cohn-Oncley fraction II/III; ultrafiltration; pasteurization||6.4-7.2||5% solution: 5% glucose, 0.3% NaCl||Lyophilized powder 5%||< 10|
(Baxter Bioscience for the American Red Cross)
|Cohn-Oncley cold ethanol fractionation, followed by ultracentrafiltration and ion exchange chromatography; solvent detergent treated||6.4-7.2||5% solution: 0.3% albumin, 2.25% glycine, 2% glucose||Lyophilized powder 5%, 10%||< 1.6 (5% solution)|
9/24/10: Withdrawn from market because of unexplained reports of thromboembolic events
|Cohn-Oncley fraction II/III; ultrafiltration; low pH incubation; S/D treatment pasteurization||5.1-6||10% maltose||Liquid 5%||200|
(Swiss Red Cross for the American Red Cross)
|Kistler-Nitschmann fractionation; pH 4, trace pepsin, nanofiltration||6.6||Per gram of IgG: 1.67 g sucrose, < 20 mg NaCl||Lyophilized powder 3%, 6%, 9%, 12%||720|
|Privigen Liquid 10%
|Cold ethanol fractionation, octanoic acid fractionation, and anion exchange chromatography; pH 4 incubation and depth filtration||4.6-5||L-proline (~250 mmol/L) as stabilizer; trace sodium; does not contain carbohydrate stabilizers (eg, sucrose, maltose)||Ready-for-use liquid 10%||≤ 25|