Screening for PNH
Who should be screened for PNH?
Published guidelines offer specific recommendations for screening patients with suspected PNH
Screen patients with*
- Hemoglobinuria — presenting symptom in only 26% of cases
- Coombs-negative hemolytic anemia
- PNH is more common in patients with bone marrow dysfunction
- Screen annually for PNH in patients with aplastic anemia (AA) or myelodysplastic syndromes ( MDS)
- Hemolytic anemia
- Venous thrombosis without explanation:
- Typical DVT1
- Unusual sites
- Budd-Chiari Syndrome
- Mesenteric, portal, cerebral, or portal veins
- Unexplained arterial thrombosis
- Episodic dysphagia or abdominal pain with evidence of hemolysis
*Adapted from Parker et al, 2005.
The signs and symptoms of PNH are often similar to those found in other diseases. PNH is also often associated with aplastic anemia (AA) and myelodysplastic syndromes (MDS), both of which are considered bone marrow failure disorders. In fact, 25% to 45% of aplastic anemia patients and 10% to 23% of MDS patients have PNH.2-5
Next: Flow Cytometry in PNH Diagnosis
References:
1. Rother RP, Bell L, Hillmen P, Gladwin MT. The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin. JAMA. 2005;293:1653-1662.
2. Johnson RJ, Hillmen P. Paroxysmal nocturnal hemoglobinuria: nature's gene therapy? J Clin Pathol Mol Pathol. 2992;55:145-152.
3. Wang H, Chuhjo T, Yasue S, Omine M, Makao S. Clinical significance of a minor population of paroxysmal nocturnal hemoglobinuria-type cells in bone marrow failure syndrome. Blood. 2002;100:3897-3902.
4. Iwanga M, Furukawa K, Amenomori T, et al. Paroxysmal nocturnal hemoglobinuria clines in patients with myelodysplastic syndromes. Brit J Haematol. 1998;102:465-474.
5. Maciejewski JP, Rivera C, Kook H, Dunn D, Young NS. Relationship between bone marrow failure syndromes and the presence of glycophophatidyl inositol-anchored protein-deficient clones. Brit J Haematol. 2001;115:1015-1022.