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Paroxysmal Nocturnal HemoglobinuriaAka: PNH
- Pathophysiology
- Rare intrinsic RBC membrane defect
- Increased RBC sensitivity to complement damage
- Symptoms and signs
- Chronic Anemia
- Abdominal Pain
- Retrosternal pain
- Lumbar back pain
- Superficial migratory thrombophlebitis
- Nocturnal Hemoglobinuria
- 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
- Coombs Test
- Complications
- 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!
- Anemia
Paroxysmal nocturnal hemoglobinuria (C0024790) | |
|---|---|
| Definition (CSP) | disorder characterized by intravascular hemolysis and hemoglobinuria; some cases occur on exposure to cold and are due to the presence of an autohemolysin in the serum; other cases are more marked during or immediately after sleep and are considered to be due to an acquired intracorpuscular defect. |
| Concepts | Disease or Syndrome (T047) |
| ICD9 | 283.2 |
| MSH | D006457 |
| English | Marchiafava - Micheli syndrome, Marchiafava Micheli disease, Marchiafava Micheli Syndrome, Marchiafava-Micheli Syndrome, Nocturnal Paroxysmal Hemoglobinuria, Parox. noct. haemoglobinuria, Parox. noct. hemoglobinuria, Paroxysmal noctural hemoglobinuria, Paroxysmal nocturnal haemoglobinuria, paroxysmal nocturnal hemoglobinuria, PNH, PNH - Paroxysmal nocturnal haemoglobinuria, PNH - Paroxysmal nocturnal hemoglobinuria |
| Spanish | hemoglobinuria paroxistica nocturna, HPN, sindrome de Marchiafava - Micheli |
| Parent Concepts | Hemoglobinuria (C0019048), Non-Neoplastic Hematologic and Lymphocytic Disorder (C1518374), Precancerous Conditions (C0032927), Anemia due to intrinsic red cell abnormality (C0272030), Ambiguous concept (C1274012) |
| Sources | CSP, DXP, MSH, MTH, MTHICD9, NCI, OMIM, PDQ, QMR, SCTSPA, SNOMEDCT Derived from the NIH UMLS (Unified Medical Language System) |