Diseases » Wiskott-Aldrich Syndrome » Diagnosis

Diagnosis of Wiskott-Aldrich Syndrome

Wiskott-Aldrich Syndrome Diagnosis: Book Excerpts

• Ask the Following Questions - THROMBOCYTOPENIA
• Differential Diagnosis - Thrombocytopenia
• Approach to the Diagnosis - THROMBOCYTOPENIA
• Diagnosis - Atopic dermatitis
• Diagnosis - Thrombocytopenia
• Diagnosis - Wiskott-Aldrich syndrome
• Diagnosis - Acquired immunodeficiency syndrome
• Diagnosis - Common variable immunodeficiency
• Diagnosis - Severe combined immunodeficiency disease
• Diagnosis - Thrombocytopenia
• Diagnosis - Common variable immunodeficiency
• Diagnosis - Human immunodeficiency virus infection
• Diagnosis - Severe combined immunodeficiency disease
• Approach to the Diagnosis - THROMBOCYTOPENIA

Diagnostic Tests for Wiskott-Aldrich Syndrome: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Wiskott-Aldrich Syndrome.

THROMBOCYTOPENIA: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

1. What is the WBC count? Thrombocytopenia with a high white count suggests leukemia or myeloid metaplasia. Thrombocytopenia with a normal white count suggests idiopathic thrombocytopenic purpura or drug reaction. Thrombocytopenia with a low white count suggests lupus erythematosus, aplastic anemia, myelofibrosis, drugs, myelophthisic anemia, or pernicious anemia.
2. What is the ANA? A positive ANA in the face of thrombocytopenia and a low white count suggests lupus erythematosus.

DIAGNOSTIC WORKUP

The diagnostic workup should include a CBC, blood smear, sedimentation rate, urinalysis, serum B ₁₂ , chemistry panel, ANA, serum haptoglobins, red cell survival, liver spleen scan, CT scan of the abdomen, and a hematology consult for bone marrow study.

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

Thrombocytopenia: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

Disorders of increased destruction

• Immunologic platelet consumption
  –Immune thrombocytopenic purpura (ITP)
  –Drug-induced (antiepileptics, septra)
  –Infection (EBV, CMV, malaria, Parvovirus, HIV, other viral illnesses)
  –Autoimmune disease (SLE)
  –Evans syndrome: ITP with immune hemolytic anemia
  –Allergy or anaphylaxis
  –Posttransplant

• Nonimmunologic
  –Chronic microangiopathic hemolytic anemia
  –Hemolytic-uremic syndrome (HUS)
  –Thrombotic thrombocytopenic purpura
  –Shear (catheters, cardiopulmonary bypass, congenital or acquired heart disease)

Disorders of decreased production
• Bone marrow infiltration: Leukemia, neuroblastoma, histiocytosis, osteopetrosis
• Marrow failure: Aplastic anemia, congenital microangiopathic anemia, thrombocytopenia with absent radii (TAR), Fanconi anemia, myelodysplasia, amegakaryocytic thrombocytopenia
• Abnormal platelet size or morphology
  –Bernard-Soulier
  –May-Hegglin
  –Gray platelet
  –Wiskott-Aldrich
• Severe nutritional deficiency
  –B12, folate

Combined disorders
• DIC, Kasabach-Merritt syndrome, storage diseases, renal disease, pre-eclampsia

Sequestration
• Hypersplenism/portal hypertension, thrombosis, cavernous transformation of portal vein, hypothermia

Neonatal
• Congenital anomalies (trisomy 13 or 18)
• Maternal causes: ITP, SLE, HELLP syndrome, DIC, hyperthyroidism, viral illness, drug use
• NEC

Workup and Diagnosis

• History: Recent illness, diet history; bleeding (nose, gum, stool, urine, skin, duration, amount); bone pain, fever, lethargy or crankiness, limp; HIV risk factors, diet history; exposure to toxins or radiation
  
• Medical history: Congenital anomalies; bleeding with previous surgery or trauma, menorrhagia; frequent infections, congenital cyanotic heart disease
• Family history: Thrombocytopenia; autoimmune or collagen vascular diseases; blood dyscrasias, hematologic malignancies; storage diseases
• Physical exam
  –General appearance, growth
  –Petechiae, purpura, ecchymoses, eczema, pallor
  –Jaundice, nail dystrophy
  –Lymph node chains
  –Splenomegaly, hepatomegaly, bruit, masses
  –Caput medusae or spider hemangiomas
  –Palatal petechiae, gum bleeding, leukoplakia
  –Absent radii, thumb anomalies, joint abnormalities
• Studies
  –Bone marrow exam
  –Abdominal ultrasound; chest X-ray
• Labs
  –All patients: CBC/diff with peripheral smear
  –Selected patients: direct and indirect Coombs, LDH, DIC panel (PT/PTT, fibrinogen, D-dimers), blood culture, HIV, ANA, urinalysis, renal function, CMV and EBV titers, hepatitis B and C serologies

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

THROMBOCYTOPENIA: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

The laboratory workup will provide the best means of diagnosing the cause of thrombocytopenia. If there is pancytopenia, the most likely cause is aplastic anemia or bone marrow invasion. Collagen disorders such as lupus erythematosus would cause a similar picture. If only the platelets are affected, autoimmune disorders would be more likely the cause. The initial workup should include a CBC, blood smear for morphology, sedimentation rate, serum B12 and folic acid levels, chemistry panel, ANA, serum haptoglobins, red cell survival, and protein electrophoresis. A hematologist should be consulted.

» READ BOOK EXCERPT ONLINE »

Source: Differential Diagnosis in Primary Care, 2007

Atopic dermatitis: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Typically, the patient has a history of atopy, such as asthma, hay fever, or urticaria; his family may have a similar history. Laboratory tests reveal eosinophilia and elevated serum IgE levels. A skin biopsy may be performed, but it isn’t always required to make the diagnosis.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Thrombocytopenia: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Diagnosis is based on the results of the patient history (especially a drug history), physical examination, and laboratory tests. Coagulation tests reveal a decreased platelet count (in adults, less than 100,000/µl), prolonged bleeding time, and normal prothrombin time and partial thromboplastin time. If increased destruction of platelets is causing thrombocytopenia, bone marrow studies will reveal a greater number of megakaryocytes (platelet precursors) and shortened platelet survival (several hours or days rather than the usual 7 to 10 days).

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Wiskott-Aldrich syndrome: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

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.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Acquired immunodeficiency syndrome: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

CONFIRMING DIAGNOSIS Signs and symptoms may occur at any time after infection with HIV, but AIDS isn’t officially diagnosed until the patient’s CD4⁺ T-cell count falls below 200 cells/µl.

The most commonly performed tests, antibody tests, indicate HIV infection indirectly by revealing HIV antibodies. The recommended protocol requires initial screening of individuals and blood products with an enzyme-linked immunosorbent assay (ELISA). A positive ELISA should be repeated and then confirmed by an alternate method, usually the Western blot or an immunofluorescence assay. The radioimmunoprecipitation assay is considered more sensitive and specific than the Western blot, but because it requires radioactive materials, it’s a poor choice for routine screening. In addition, antibody testing isn’t reliable. Because people produce detectable levels of antibodies at different rates — a “window” varying from a few weeks to as long as 35 months in one documented case — an HIV-infected person can test negative for HIV antibodies. Antibody tests are also unreliable in neonates because transferred maternal antibodies persist for 6 to 10 months. To overcome these problems, direct tests are used, including antigen tests (p24 antigen), HIV cultures, nucleic acid probes of peripheral blood lymphocytes, and the polymerase chain reaction. (See Laboratory tests for diagnosing and tracking HIV and assessing immune status, page 396.)

Additional tests to support the diagnosis and help evaluate the severity of immunosuppression include CD4⁺ and CD8⁺ T-lymphocyte subset counts, erythrocyte sedimentation rate, complete blood cell count, serum beta₂-microglobulin, p24 antigen, neopterin levels, and anergy testing. Because many opportunistic infections in AIDS patients are reactivations of previous infections, patients are also tested for associated neoplasms, infections, and STDs.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Common variable immunodeficiency: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Characteristic diagnostic markers in this disorder are decreased serum IgM, IgA, and IgG levels detected by immunoelectrophoresis, along with a normal circulating B-cell count. Antigenic stimulation confirms an inability to produce specific antibodies; cell-mediated immunity may be intact or delayed. X-rays usually show signs of chronic lung disease or sinusitis.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Severe combined immunodeficiency disease: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Diagnosis is generally made clinically because most SCID infants suffer recurrent overwhelming infections within 1 year of birth. Some infants are diagnosed after a severe reaction to vaccination.

Defective humoral immunity is difficult to detect before age 5 months. Before then, even normal infants have very small amounts of serum immunoglobulin (Ig) M and IgA. Normal IgG levels merely reflect maternal IgG.

Confirming diagnosis  Severely diminished or absent T-cell number and function, as well as lymph node biopsy showing absence of lymphocytes, can confirm diagnosis of SCID.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Thrombocytopenia: Diagnosis
(Handbook of Diseases)

To diagnose thrombocytopenia, obtain a patient history (especially a drug history), a physical examination, and the following laboratory tests:

❑ Coagulation tests reveal a decreased platelet count (in adults, < 100,000/µl), prolonged bleeding time, and normal prothrombin time and partial thromboplastin time. Platelet-associated antibodies may be present.

❑ If increased destruction of platelets is causing thrombocytopenia, bone marrow studies will reveal a greater number of megakaryocytes (platelet precursors) and shortened platelet survival (several hours or days rather than the usual 7 to 10 days). >

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

Common variable immunodeficiency: Diagnosis
(Handbook of Diseases)

Characteristic diagnostic markers in this disorder include decreased serum immunoglobulin (Ig) M, IgA, and IgG detected by immunoelectrophoresis, along with a normal circulating B-cell count. Antigenic stimulation confirms an inability to produce specific antibodies; cell-mediated immunity may be intact or delayed. X-rays usually show signs of chronic lung disease or sinusitis.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

Human immunodeficiency virus infection: Diagnosis
(Handbook of Diseases)

The CDC defines AIDS as an illness characterized by one or more “indicator” diseases coexisting with laboratory evidence of HIV infection and other possible causes of immunosuppression. The CDC’s current AIDS surveillance case definition requires laboratory confirmation of HIV infection in people who have a CD4⁺ T-cell count of 200 cells/µl or who have an associated clinical condition or disease.

Antibody tests

The most commonly performed tests, antibody tests indicate HIV infection indirectly by revealing HIV antibodies. The recommended protocol requires initial screening of individuals and blood products with an enzyme-linked immunosorbent assay (ELISA). A positive ELISA should be repeated and then confirmed by an alternate method, usually the Western blot or an immunofluorescence assay. However, antibody testing isn’t always reliable. Because the body takes a variable amount of time to produce a detectable level of antibodies, a “window” varying from a few weeks to as long as 35 months in one documented case allows an HIV-infected person to test negative for HIV antibodies.

Antibody tests are also unreliable in neonates because transferred maternal antibodies persist for 6 to 10 months. To overcome these problems, direct testing is performed to detect HIV. Direct tests include antigen tests (p24 antigen), HIV cultures, nucleic acid probes of peripheral blood lymphocytes with determination of HIV-1 ribonucleic acid levels, and the polymerase chain reaction.

Other tests

Additional tests to support the diagnosis and help evaluate the severity of immunosuppression include CD4⁺ and CD8⁺ T-lymphocyte subset counts, erythrocyte sedimentation rate, complete blood count, serum beta₂-microglobulin, p24 antigen, neopterin levels, and anergy testing. Because many opportunistic infections in patients are reactivations of previous infections, patients are also tested for syphilis, hepatitis B, tuberculosis, toxoplasmosis and, in some areas, histoplasmosis.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

Severe combined immunodeficiency disease: Diagnosis
(Handbook of Diseases)

Clinical indications point to the diagnosis. Most infants with SCID suffer recurrent overwhelming infections within 1 year of birth. Some are diagnosed after a severe reaction to vaccination.

Defective humoral immunity is difficult to detect before an infant is 5 months old. Before age 5 months, even normal infants have very small amounts of the serum immunoglobulins (Ig) IgM and IgA, and normal IgG levels merely reflect maternal IgG. However, severely diminished or absent T-cell number and function and lymph node biopsy showing absence of lymphocytes can confirm the diagnosis of SCID.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

THROMBOCYTOPENIA: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

The laboratory workup will provide the best means of diagnosing the cause of thrombocytopenia. If there is pancytopenia, the most likely cause is aplastic anemia or bone marrow invasion. Collagen disorders such as lupus erythematosus would paint a similar picture. If only the platelets are affected, autoimmune disorders would be more likely the cause. The initial workup should include a CBC, blood smear for morphology, sedimentation rate, serum B₁₂ and folic acid levels, chemistry panel, ANA, serum haptoglobins, red cell survival, and protein electrophoresis. A hematologist should be consulted.

» READ BOOK EXCERPT ONLINE »

Source: Differential Diagnosis in Primary Care, 2007

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