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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 ... Shwachman-Diamond Syndrome ... #Pancytopenia #Syndromes ... #BoneMarrow #Failure ... #diagnosis #Hematology
ANA Patterns and Associated Rheumatic Diseases:
 • Homogeneous: Systemic lupus erythematosus (SLE), Mixed connective tissue disease
lupus erythematosus ... lupus erythematosus ... SLE), Sjogren's Syndrome ... ANA #patterns #rheumatology ... #diagnosis #differential
Pancytopenia - Differential Diagnosis

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

Cancer:
• Leukemia
• Lymphoma

Inflammatory
deficiency • Fanconi’s anemia ... Wiskott-Aldrich syndrome ... Autoimmune Diseases: • Systemic ... lupus erythematosus ... #Hematology
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Sjögrens (15%) Skin ... Demyelinating syndromes ... ) Blood (75%): Anemia ... #erythematosus ... #rheumatology
Skin Conditions Associated with Joint Pain

Rash
	• Human parvovirus B19 infection

Malar rash
	• SLE
	• Human parvovirus B19 infection
	•
Vesicopustule on erythematous ... Antiphospholipid-antibody syndrome ... Discoid lupus erythematosus ... #differential #diagnosis ... #rheumatology
Systemic Lupus Erythematosus - Summary
Antinuclear (ANA) - 95% - Initial screening test
Anti-dsDNA - 50%
 • Associated
Systemic Lupus Erythematosus ... Associated with skin ... block • Sjogren syndrome ... #SLE #Summary #diagnosis ... #rheumatology #
SLE (Systemic Lupus Erythematosus)

Suspect:
Clinical evidence of (fatigue, rash, photosensitivity, inflammatory arthritis, weight loss, and fever) and
3rd Decade Skin ... Differential Diagnosis ... Non-autoimmune rheumatologic ... lymphopenia, low PLT • Anemia ... #Diagnosis #Rheumatology
SLICC SLE Diagnostic Criteria - Systemic Lupus Erythematosus
Clinical and Immunologic Criteria

CLINICAL CRITERIA
 - ACUTE CUTANEOUS LUPUS
SLICC SLE Diagnostic ... Criteria - Systemic ... Lupus Erythematosus ... NEUROLOGIC - HEMOLYTIC ANEMIA ... #Diagnosis #Rheumatology
Classification of Vasculitis 
Vasculitis of large vessels 
 - Arteritis temporalis (giant-cell arteritis) 
 - Takayasu
central nervous system ... disease - systemic ... lupus erythematosus ... #Rheumatology # ... Diagnosis
Causes of Hypocomplementemia - CHAMPS Mnemonic
C - Cryoglobulinemia (85%), C3 glomerulopathy, cirrhosis
H - Heavy Chain deposition
antiphospholipid syndrome ... glomerulonephritis (>90%) S - Systemic ... Lupus Erythematosus ... CHAMPS #Mnemonic #diagnosis ... #differential #hematology