II. Pathophysiology

  1. Rare intrinsic RBC membrane defect
  2. Increased RBC sensitivity to complement damage

III. Symptoms and signs

  1. Chronic Anemia
  2. Abdominal Pain
  3. Retrosternal pain
  4. Lumbar back pain
  5. Superficial migratory Thrombophlebitis
  6. Nocturnal Hemoglobinuria

IV. Labs

  1. Coombs Test
    1. Negative
  2. Peripheral Smear
    1. Reticulocytosis
    2. Hypochromasia (Chronic urinary iron loss)
  3. Urine
    1. Hemoglobinuria may be present
    2. Hemosiderin more often present
  4. Complete Blood Count
    1. Hemoglobin or Hematocrit consistent with Anemia
    2. Leukopenia
  5. Hemosiderin
    1. Leukocytes and Urine
  6. Ham Test Positive (Insensitive but highly specific)
    1. Increased Hemolysis in acid solution
  7. Sucrose Hemolysis Test (Sensitive but less specific)
    1. Increased Hemolysis in sucrose solution

V. Complications

  1. Acute Myelocytic Leukemia (5-10%)
  2. Thrombotic Complications
  3. Chronic Anemia

VI. Management

  1. Anemia
    1. Folic Acid supplementation
    2. Iron Supplementation
    3. Androgen Trial for 2 months
      1. Fluoxymesterone 5-40 mg PO qd
      2. Oxymetholone 1-5 mg/kg/day PO
      3. Nandrolone decanoate 25-200 mg each week IM
  2. Hemolysis
    1. Prednisone
      1. Dose: 0.25 - 1.0 mg/kg/day (15-40 mg PO qd)
      2. Daily steroids not recommended unless critical need
      3. Alternate day therapy may be helpful
  3. Transfusion
    1. Most patients become transfusion dependent
    2. Blood Antibody development is common
      1. Washed RBCs or frozen deglycerolized RBCs
  4. Thrombotic Complications
    1. Use Heparin with caution!

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Ontology: Paroxysmal nocturnal hemoglobinuria (C0024790)

Definition (NCI) A rare acquired hematologic disorder characterized by hemolytic anemia, dark-colored urine due to the release of hemoglobin in the blood, and thrombosis. The episodes of hemolysis tend to occur at night. It is caused by a somatic mutation in the glycosylphosphatidylinositol biosynthesis gene.
Definition (NCI_NCI-GLOSS) A rare disorder in which red blood cells are easily destroyed by certain immune system proteins. Symptoms include blood clots, and red or brownish urine in the morning. Aplastic anemia (decreased production of blood cells) may lead to PNH, and people with PNH are at increased risk of acute myelogenous leukemia.
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)
MSH D006457
ICD10 D59.5
SnomedCT 1963002, 267559009, 191223003, 154805009
English Marchiafava Micheli Syndrome, Nocturnal Paroxysmal Hemoglobinuria, Paroxysmal Hemoglobinuria, Nocturnal, Syndrome, Marchiafava-Micheli, Hemoglobinuria, Nocturnal Paroxysmal, PNH - Paroxy noctur haemoglobi, Paroxy nocturn haemoglobinuria, Paroxy nocturn hemoglobinuria, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, Paroxysmal nocturnal haemoglobinuria [Marchiafava-Micheli], Paroxysmal nocturnal hemoglobinuria [Marchiafava-Micheli], Marchiafava-Micheli Syndrome, Hemoglobinuria, Paroxysmal Nocturnal, Paroxysmal Nocturnal Hemoglobinuria, Marchiafava Micheli disease, Paroxysmal noctural hemoglobinuria, paroxysmal nocturnal hemoglobinuria, paroxysmal nocturnal hemoglobinuria (diagnosis), Paroxysmal Hemoglobinuria, paroxysmal nocturnal hemoglobinuria (PNH), marchiafava-micheli syndrome, pnh, Paroxysmal nocturnal hemoglobinuria (PNH), Marchiafava - Micheli syndrome, Parox. noct. hemoglobinuria, (Haemoglobinuria: [March]) or (Marchiafava-Micheli syndrome), Parox. noct. haemoglobinuria, (Haemoglobinuria: [March]) or (Marchiafava-Micheli syndrome) (disorder), (Hemoglobinuria: [March]) or (Marchiafava-Micheli syndrome), Marchiafava-Micheli syndrome, PNH, PNH - Paroxysmal nocturnal haemoglobinuria, PNH - Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal haemoglobinuria, Paroxysmal nocturnal hemoglobinuria (disorder), Marchiafava-Micheli, hemoglobinuria; paroxysmal, nocturnal, paroxysmal; hemoglobinuria, nocturnal, Paroxysmal nocturnal hemoglobinuria, Nocturnal paroxysmal hemoglobinuria
Italian Emoglobinuria parossistica notturna
French Hémoglobinurie nocturne paroxysmale, Maladie de Marchiafava-Micheli, HNP (Hémoglobinurie Nocturne Paroxystique), Hémoglobinurie nocturne paroxystique, Hémoglobinurie paroxystique nocturne, Syndrome de Marchiafava-Micheli
Portuguese Hemoglobinúria nocturna paroxística, Hemoglobinúria Paroxística Noturna, Hemoglobinúria paroxística nocturna
Spanish Hemoglobinuria paroxísmica nocturna, Hemoglobinuria Paroxística Nocturna, HPN, hemoglobinuria paroxística nocturna (trastorno), hemoglobinuria paroxística nocturna, síndrome de Marchiafava - Micheli, Hemoglobinuria paroxística nocturna
German Paroxysmale nächtliche Hämoglobinurie (PNH), Paroxysmale nächtliche Hämoglobinurie, Paroxysmale naechtliche Haemoglobinurie [Marchiafava-Micheli], paroxysmale naechtliche Haemoglobinurie, Marchiafava-Micheli-Syndrom
Japanese 発作性夜間血色素尿症, ホッサセイヤカンケッシキソニョウショウ
Czech Paroxysmální noční hemoglobinurie
Korean 발작성 야간 혈색소뇨증
Hungarian paroxysmalis nocturnalis haemoglobinuria
Norwegian Paroksysmal nokturn hemoglobinuri
Dutch hemoglobinurie; paroxysmaal, nachtelijk, paroxysmaal; hemoglobinurie, nachtelijk, Paroxysmale nachtelijke hemoglobinurie [Marchiafava-Micheli], paroxysmale nachtelijke hemoglobinurie