Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome: Excerpt from Professional Guide to Diseases (Eighth Edition)
Also called immunodeficiency with eczema and thrombocytopenia, this disease is an X-linked, recessive immunodeficiency disorder characterized by defective B-cell and T-cell functions. Its clinical features include thrombocytopenia with severe bleeding, eczema, recurrent infection, and an increased risk of lymphoid cancers. Symptoms develop in the first year of life. The prognosis is poor. Wiskott-Aldrich syndrome causes early death, usually from massive bleeding during infancy, or from cancer or severe infection in early childhood. The average life span is 4 years; affected children rarely survive to their teens.
Causes and incidence
Because Wiskott-Aldrich syndrome results from an X-linked recessive trait, it affects only males. Children with this genetic defect are born with a normal thymus gland, plasma cells, and lymphoid tissues. However, an inherited defect in both B-cell and T-cell function compromises the child’s immune system response and increases his vulnerability to infection. These children also have a metabolic defect in platelet synthesis that causes them to produce only small, short-lived platelets, resulting in thrombocytopenia.
Wiskott-Aldrich syndrome occurs in 4 neonates per 1 million live births.
Signs and symptoms
Characteristically, neonates with Wiskott-Aldrich syndrome develop bloody stools, bleeding from a circumcision site, petechiae, and purpura as a result of thrombocytopenia. As the infants get older, thrombocytopenia subsides. However, beginning at about 6 months, they typically develop recurrent systemic infections, such as chronic pneumonia, sinusitis, otitis media, and herpes simplex of the skin and eyes (which may cause keratitis and vision loss), with hepatosplenomegaly. Usually, Streptococcus pneumoniae, meningococci, and Haemophilus influenzae are the infecting organisms. Varicella infection can be lethal. At about age 1, eczema develops and becomes progressively more severe; pruritus and persistent scratching commonly lead to skin infections. These children are also highly vulnerable to certain cancers, especially leukemia and lymphoma.
Diagnosis
The most important clues to diagnosis of Wiskott-Aldrich syndrome are thrombocytopenia (demonstrated by coagulation tests showing a platelet count below 100,000/mm3 and prolonged bleeding time) and bleeding disorders at birth. Laboratory tests may show normal or elevated immunoglobulin (Ig) E and IgA levels, decreased IgM levels, normal IgG levels, and low levels or absence of isohemagglutinins. T-cell immunity may be normal in neonates, but it gradually declines with age.
Treatment
Treatment aims to limit bleeding through the use of fresh, crossmatched platelet transfusions; to prevent or control infection with prophylactic or early and aggressive antibiotic therapy as appropriate; to supply passive immunity with immune globulin infusion; and to control eczema with topical corticosteroids. (Systemic corticosteroids are contraindicated because they further compromise immunity.) An antipruritic may relieve itching.
Treatment with transfer factor has provided some limited success. However, bone marrow transplantation has been remarkably successful in some patients.
Special considerations
❑ Provide physical and psychological support and thorough patient education to help children and their families cope with this disorder. As soon as the child is old enough to understand, begin teaching him about his disease and his limitations.
❑ Teach the parents of an affected child to watch him for signs of bleeding, such as easy bruising, bloody stools, swollen joints, and tenderness in the trunk area. Help them plan their child’s activity levels to ensure normal development. Although the child must avoid contact sports, he’s allowed to ride a bike (while wearing protective football gear) and swim.
❑ Before giving platelet transfusions, establish the child’s baseline platelet count. Be sure to check the platelet count often during therapy; each platelet unit transfused should raise the count by 10,000/mm3.
❑ Instruct parents to observe the child for signs of infection, such as fever, coldlike symptoms, or drainage and redness around any superficial wound. Such signs must be reported promptly. Emphasize the importance of meticulous mouth and skin care (including careful cleaning of all skin wounds, no matter how superficial), good nutrition, and adequate hydration. Stress the need to avoid exposing the child to crowds or to people who have active infections.
❑ As appropriate, arrange for the parents of children with Wiskott-Aldrich syndrome to receive genetic counseling to answer any questions they may have about the potential vulnerability of future offspring.
Book Source Details
- Book Title: Professional Guide to Diseases (Eighth Edition)
- Author(s): Springhouse
- Year of Publication: 2005
- Copyright Details: Professional Guide to Diseases (Eighth Edition), Copyright © 2005 Lippincott Williams & Wilkins.
More About Wiskott-Aldrich Syndrome
More Medical Textbooks Online about Wiskott-Aldrich Syndrome
Review other book chapters online related to Wiskott-Aldrich Syndrome:
Medical Books Excerpts
- Thrombocytopenia
- "The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter" (2000)
- [ read ]
Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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Acquired immunodeficiency syndrome (Professional Guide to Diseases (Eighth Edition))
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