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Aplastic Anemia and Bone Marrow Failure Syndromes with Pancytopenia

Fanconi Anemia
Acquired Aplastic Anemia
Dyskeratosis Congenita & Telemore Biology
Marrow Failure Syndromes ... Dyskeratosis Congenita ... Shwachman-Diamond Syndrome ... #Pancytopenia #Syndromes ... anemia #diagnosis #Hematology
Pancytopenia - Differential Diagnosis

Congenital Diseases:
• GATA2 deficiency
• Fanconi’s anemia
• Wiskott-Aldrich syndrome
• Ribosomopathy or telomeropathy

Cancer:
• Leukemia
• Lymphoma

Inflammatory
Differential Diagnosis Congenital ... Wiskott-Aldrich syndrome ... Diseases: • Systemic lupus ... Differential #Diagnosis #Hematology
Systemic Lupus Erythematosus - Summary
Antinuclear (ANA) - 95% - Initial screening test
Anti-dsDNA - 50%
 • Associated
Systemic Lupus Erythematosus ... SLE, including congenital ... block • Sjogren syndrome ... polymyositis overlap syndrome ... #Systemic #Lupus
Clinical Manifestations of Systemic Lupus Erythematosus (SLE)

#Systemic #Lupus #Erythematosus #SLE #Manifestations #Signs #Symptoms #Rheumatology #Diagnosis
Clinical Manifestations ... of Systemic Lupus ... ) #Systemic #Lupus ... Signs #Symptoms #Rheumatology
Hypereosinophilia and Hypereosinophilic Syndrome

 • Secondary Hypereosinophilic Syndrome
 • Clinically Relevant HES Variants
 • When to
Hypereosinophilic Syndrome ... Hypereosinophilic Syndrome ... • Clinically ... suspect underlying hematologic ... #HES #Hematology
ANA Patterns and Associated Rheumatic Diseases:
 • Homogeneous: Systemic lupus erythematosus (SLE), Mixed connective tissue disease
Homogeneous: Systemic lupus ... , Drug-induced Lupus ... Speckled: Systemic lupus ... SLE), Sjogren's Syndrome ... ANA #patterns #rheumatology
EULAR/ACR Classification Criteria for Systemic Lupus Erythematosus
Clinical Domains:
 • Constitutional domain: Fever
 • Cutaneous domain: Non-scarring
Criteria for Systemic Lupus ... Erythematosus Clinical ... Acute cutaneous lupus ... pericarditis • Hematologic ... Erythematosus #diagnosis #rheumatology
Causes of Splenomegaly - Differential Diagnosis Algorithm
Infectious
 • Bacterial
 • Viral (EBV)
 • Parasitic
 • Fungal
Congestive
Inflammatory • Systemic Lupus ... Thalassemia • Congenital ... Algorithm #Causes #Hematology
Causes of Recurrent Pregnancy Loss - Differential Diagnosis Algorithm
Environmental:
 • Toxin (organic solvents, mercury, lead)
 •
Antiphospholipid syndrome ... • Lupus anticoagulant ... • Fibroids • Congenital ... • Asherman's Syndrome
Autoantibodies in Rheumatology
 • Lupus (SLE): ANA (anti-nuclear antibody), dsDNA (double-stranded DNA), Anti-Smith, Anti-Ro (SSA) and
Autoantibodies in Rheumatology ... • Lupus (SLE): ... Antiphospholipid Antibody Syndrome ... glycoprotein I (ß2GP), Lupus ... LAC) • Sjogren Syndrome