II. Pathophysiology
- Rare intrinsic RBC membrane defect
- Increased RBC sensitivity to complement damage
III. Symptoms and signs
- Chronic Anemia
- Abdominal Pain
- Retrosternal pain
- Lumbar back pain
- Superficial migratory Thrombophlebitis
- Nocturnal Hemoglobinuria
IV. Labs
-
Coombs Test
- Negative
-
Peripheral Smear
- Reticulocytosis
- Hypochromasia (Chronic urinary iron loss)
- Urine
- Hemoglobinuria may be present
- Hemosiderin more often present
-
Complete Blood Count
- Hemoglobin or Hematocrit consistent with Anemia
- Leukopenia
- Hemosiderin
- Leukocytes and Urine
-
Ham Test Positive (Insensitive but highly specific)
- Increased Hemolysis in acid solution
-
Sucrose Hemolysis Test (Sensitive but less specific)
- Increased Hemolysis in sucrose solution
V. Complications
- Acute Myelocytic Leukemia (5-10%)
- Thrombotic Complications
- Chronic Anemia
VI. Management
-
Anemia
- Folic Acid supplementation
- Iron Supplementation
- Androgen Trial for 2 months
- Fluoxymesterone 5-40 mg PO qd
- Oxymetholone 1-5 mg/kg/day PO
- Nandrolone decanoate 25-200 mg each week IM
-
Hemolysis
-
Prednisone
- Dose: 0.25 - 1.0 mg/kg/day (15-40 mg PO qd)
- Daily steroids not recommended unless critical need
- Alternate day therapy may be helpful
-
Prednisone
- Transfusion
- Most patients become transfusion dependent
- Blood Antibody development is common
- Washed RBCs or frozen deglycerolized RBCs
- Thrombotic Complications
- Use Heparin with caution!