Wiskott-Aldrich Syndrome

This syndrome occurs only in males and is characterized by eczema, profound thrombocytopenia, and frequent infections as a result of a defect in both T- and B-cell function. Death frequently occurs during childhood.

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Aldrich Syndrome; Eczema-Thrombocytopenia-Immunodeficiency Syndrome; Aldrich-Huntley Syndrome; Aldrich-Dees Syndrome; Aldrich-Wiskott Syndrome; Wiskott Syndrome; Wiskott-Aldrich-Huntley Syndrome; Wiskott-Aldrich-Dees Syndrome.

Inherited immune deficiency that was first described by Alfred Wiskott, German pediatrician in 1937, and characterized by Robert Anderson Aldrich, American pediatrician in 1954.

1:200,000 live births.

Transmitted as an X-linked recessive trait.

Caused by mutation in the WAS gene located at Xp11.23-p11.22.

Onset generally occurs before 3 years of age in a boy with hemorrhagic signs, thrombocytopenia with small-size platelets, recurrent infections, and eczema. Early prenatal diagnosis can be made by trophoblast biopsies.

Mental retardation is frequent. Infections are recurrent and can include the orolaryngotracheal system, the lungs, meningitis, and diarrhea. Hemorrhagic signs can involve epistaxis, oral bleeding, hematemesis, melena, petechiae, and purpura; bleeding time is prolonged. Eczema is very frequent, nephropathy and signs of autoimmunity are often observed, and there is an increased risk of malignancy (particularly lymphoma). Laboratory investigations can show thrombocytopenia (with small-size platelets), anemia (hemolytic, iron deficiency), small and large vessel vasculitis, and sialophorin defectively expressed on surface of blood cells. Immunological patterns concern depressed antibody response to polysaccharide antigens, lymphopenia, abnormal delayed hypersensitivity skin test, absent microvilli on the surface of peripheral blood lymphocytes, increased IgA and IgE levels, decreased IgM levels, raised erythrocyte sedimentation rate and C-reactive protein.

It is recommended to obtain an anesthesiology consultation before elective surgical procedures. One must obtain a complete medical history and physical examination. Evaluate pulmonary function because of recurrent lung infections (clinical, chest radiographs, CT scan, pulmonary function test with arterial blood gas analysis), cardiac function because of autoimmune vasculitis that can affect coronary arteries (clinical, ECG, echocardiography if necessary), renal function (clinical, urea, creatinine, electrolytes), neurological function because of the frequent intracranial hemorrhage (clinical, CT), and bleeding risk (clinical, platelet count, bleeding time, red blood cell count).

Strict asepsis is needed. Avoid all intranasal devices. Perimedullar blockade should be avoided because of the hemorrhagic risk. Benefit of peripheral regional anesthesia has to be established.

Anesthetic drugs and fluid regimens have to be adapted to renal function. Consider these patients as immunodeficient when providing prophylactic antibiotherapy. Preoperative steroid stress doses are required in cases of long-term treatment. Blood products must be irradiated to prevent graft versus host reaction.

Nezelof Syndrome: A group of rare, inherited disorders characterized by recurrent infections because of the impairment of the T lymphocyte system and, in some cases, the B lymphocyte system. In infancy, severe infections with low-grade or opportunistic microorganisms are often observed. An autosomal recessive or X-linked recessive genetic transmission has been suggested. Males are affected more than females.

Idiopathic Thrombocytopenia Purpura: Characterized by severe thrombocytopenia leading to minor dermal or submucosal hemorrhages (petechia), fever, and splenomegaly. Current evidence supports an immunologic basis. It is believed that females are more affected than males.

X-linked Agammaglobulinemia: A rare inherited immune deficiency characterized by defects of the B lymphocyte system and insufficient levels of certain circulating antibodies. Affected individuals experience recurrent bacterial infections during the first year of life. Because this disorder is inherited as an X-linked recessive pattern, only males are affected.

SCIDS (Severe Combined Immunodeficient Syndrome): A group of rare, inherited disorders characterized by impairment of both the T lymphocyte and B lymphocyte systems (“combined immunodeficiency”), resulting in little or no immune response and severe recurrent infections. Most affected infants present with failure to thrive. It may be inherited as autosomal recessive or X-linked genetic traits. Approximately 80% of individuals with SCID are male.