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Acute Intermittent Porphyria (AIP)
Pathophysiology
Autosomal Dominant
Inhibited Porphobilinogen Deaminase
Increased Serum Porphobilinogen
Increased Serum Delta-ALA
Increased Urinary Porphyrin Precursors
Signs & Symptoms
Precipitated By P450 Inducers
Painful Abdomen
Polyneuropathy
Psychological Disturbances
Port Wine-Colored Urine
Treatment
Glucose and Hemin
Considerations
Avoid Triggers
3 mins
Acute Lymphoblastic Leukemia (ALL)
Ages < 15
May Present with Bone Marrow Involvement in Children
Mediastinal Mass in Adolescents
TdT Positive
CALLA Positive
t(12;21) Better Prognosis
Spread to CNS and Testes
Most Responsive to Chemotherapy
2 mins
Acute Myelogenous Leukemia (AML)
Myeloblasts Increase on Peripheral Smear
Median Onset 60 Years
T 15;17 M3 Subtype
Auer Rods
Disseminated Intravascular Coagulation (DIC) is a Common Presentation
M5 Gum Infiltration
Responds to Vitamin A
3 mins
Auer Rods
Azurophilic granular needles in leukemic blasts
Disseminated Intravascular Coagulation (DIC)
Acute Myelogenous Leukemia (AML)
All-trans Retinoic Acid (Vitamin A)
1 min
Bernard-Soulier Syndrome
Mechanism
Autosomal Recessive
Deficiency of Glycoprotein Ib (GpIb) Receptor
Symptoms
Mucosal Membrane Bleeding
Menorrhagia
Easy Bruising
Labs
Large Platelets
Increased Bleeding Time
No Platelet Agglutination with Ristocetin
3 mins
Chronic Lymphocytic Leukemia (CLL)
Signs and Symptoms
Age > 60 Years
B Cell Neoplasm
Smudge Cells
Often Asymptomatic
Cold IgM Autoimmune Hemolytic Anemia
Warm IgG Autoimmune Hemolytic Anemia
Richter's Transformation
3 mins
Chronic Myelogenous Leukemia (CML)
Pathophysiology
BCR-ABL
9;22 Translocation
Philadelphia Chromosome
Signs & Symptoms
Tyrosine Kinase
Low Alkaline Phosphatase
Splenomegaly
Considerations
Blast Crisis
Age 30 to 90 Years
Responds to Imatinib
3 mins
Glanzmann Thrombasthenia
Pathophysiology
Autosomal Recessive or Acquired as an Autoimmune Disorder
Deficiency of Glycoprotein IIb/IIIa (Gp IIb/IIIa) Receptor
Splenic macrophage consumption of platelet-antibody complex
Commonly due to viral illness
Increased Bleeding time
Decreased Platelet Count
Labs: megakaryocytes on bone marrow biopsy
Sudden onset of Petechiae and Purpura
Dx: rule out other causes of thrombocytopenia (HIV and Hep C)
Tx: Steroids (initial treatment)
Tx: IVIG (acutely)
Tx: Splenectomy (for refractory ITP)
Tx: Rituximab (if splenectomy doesn't work)
Polycythemia Vera Disease
Pathophysiology
JAK2 Mutation leading to increased red blood cells
Tyrosine Kinase
Symptoms
Erythromelalgia
Pruritus
Often After Hot Shower
Headache
Treatment
Phlebotomy
Aspirin
1 min
Polycythemia Vera Labs
Lab Findings (The 4 H's)
Hypervolemia
Histaminemia
Hyperviscosity
Hyperuricemia
Diagnosis
Elevated Hemoglobin or Hematocrit
Positive Jak2 Mutation
1 min
Porphyria Cutanea Tarda (PCT)
Pathophysiology
Inhibited Uroporphyrinogen Decarboxylase (UROD)
Most Common Porphyria
20% Autosomal Dominant
80% Sporadic Type
Hepatitis C Association
Signs & Symptoms
Photosensitivity
Blistering of Skin
Tea Colored Urine
Diagnosis
Increased Uroporphyrins (Urinary & Serum)
Treatment
Avoid Sunlight
Phlebotomy
Hydroxychloroquine (Low Dose)
3 mins
Protein C or S Deficiency
Pathophysiology
Autosomal Dominant
Inability to Inactivate Factor Va and VIIIa
Symptoms
Hypercoagulable State
Recurrent DVTs or DVTs at Young Age
Treatment
Begin Heparin
Slowly Bridge to Warfarin
Hemorrhagic Skin Necrosis
2 mins
Thrombotic Thrombocytopenic Purpura (TTP)
Inhibition or deficiency of ADAMTS 13
vWF Multimers are Not Degraded
Microthrombi (and Emboli)
Symptoms
FAT RN Pentad
Fever
Anemia
Thrombocytopenia
Renal Dysfunction
Neurologic Abnormalities (Altered Mental status)
Treatment
Plasmapheresis
Corticosteroids
Splenectomy
2 mins
Von Willebrand Disease
Mixed platelet and coagulation disorder
Mechanism
Autosomal Dominant Condition Leading to Reduced vWF
Defect in platelet plug formation
Labs
Increased Bleeding Time
PTT increased
Factor VIII decreased
Normal platelet count
Treatment
DDAVP (synthetic vasopressin)
1 min
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