What are the causes and management of echinocytes (Burr cells) on a blood smear?

From the Guidelines

Burr cells on a blood smear are primarily managed by treating the underlying condition, such as uremia, liver disease, or pyruvate kinase deficiency, rather than directly addressing the burr cells themselves. The presence of burr cells, also known as echinocytes, indicates a need to investigate for underlying conditions, particularly those affecting kidney and liver function, as well as other metabolic disorders like pyruvate kinase deficiency 1.

Causes of Burr Cells

• Uremia (kidney failure)
• Liver disease
• Pyruvate kinase deficiency, as discussed in the context of hereditary non-immune hemolytic anemia 1
• Microangiopathic hemolytic anemia
• Medication effects, such as from aspirin, phenytoin, and heparin

Management Approach

The management of burr cells focuses on treating the underlying cause:

• For uremia, this includes dialysis and addressing electrolyte imbalances.
• In liver disease, supportive care and treating the hepatic dysfunction are essential.
• For medication-induced cases, discontinuing the offending drug often resolves the abnormality.
• Pyruvate kinase deficiency may require supportive care, including folic acid supplementation and occasional blood transfusions, as the condition can lead to chronic hemolysis with features like increased reticulocyte count, elevated lactate dehydrogenase (LDH), and reduced haptoglobin 1.

Diagnostic Consideration

Given that the hematological features of conditions like pyruvate kinase deficiency are not specific and can be shared with other hereditary hemolytic diseases, establishing a diagnosis involves considering the patient’s personal and family medical history, clinical examination, and laboratory investigations, including the demonstration of decreased enzyme activity and/or the identification of causative mutations in the PKLR gene 1.

From the Research

Burr Cells on Blood Smear

• Burr cells, also known as echinocytes, are abnormal red blood cells that can be seen on a blood smear 2.
• The presence of burr cells can be an indication of various underlying conditions, including hematological malignancies, infections, and other diseases 2.

Causes of Burr Cells

• The exact cause of burr cells is not well understood, but they can be associated with conditions such as:
  • Hematological cancers 2
  • Infections 2
  • Iron deficiency anemia 3, 4
  • Vitamin B12 deficiency 5, 6
  • Folate deficiency 5, 6

Management of Burr Cells

• The management of burr cells depends on the underlying cause of the condition.
• If the cause is iron deficiency anemia, treatment with iron supplements may be necessary 3, 4.
• If the cause is vitamin B12 or folate deficiency, treatment with supplements or dietary changes may be necessary 5, 6.
• In cases where the cause is a hematological malignancy, treatment of the underlying cancer is necessary 2.

Laboratory Diagnosis

• The laboratory diagnosis of burr cells typically involves a blood smear examination 2.
• Other laboratory tests, such as complete blood counts, serum iron, and ferritin levels, may also be necessary to determine the underlying cause of the condition 3, 4.