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D55.2 – Anaemia Due to Glycolytic Enzyme Disorders
D55.2 is the ICD-10 code for anaemia due to disorders of glycolytic enzymes. This rare inherited condition causes premature red blood cell destruction due to enzyme deficiency.
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D55.2 is the ICD-10 code for anaemia due to disorders of glycolytic enzymes. This rare inherited condition causes premature red blood cell destruction due to enzyme deficiency.
What is D55.2?
The ICD-10 code D55.2 refers to anaemia due to disorders of glycolytic enzymes. This is a rare, usually hereditary form of haemolytic anaemia. In this condition, the enzymes responsible for breaking down sugar (glycolysis) inside red blood cells are either absent or dysfunctional. As a result, red blood cells are prematurely destroyed and can no longer supply the body with sufficient oxygen.
Causes
The condition is caused by genetic mutations that impair the activity of specific glycolytic enzymes. The most commonly affected enzymes include:
- Pyruvate kinase (PK): Pyruvate kinase deficiency is the most frequent form and is inherited in an autosomal recessive pattern.
- Phosphoglycerate kinase
- Triosephosphate isomerase
- Phosphofructokinase
These enzyme defects prevent red blood cells from producing sufficient energy in the form of ATP (adenosine triphosphate). Without adequate ATP, red blood cells lose their structural integrity and are prematurely destroyed by the spleen and liver – a process known as haemolysis.
Symptoms
Symptoms can vary widely depending on the severity of the enzyme deficiency. Common signs include:
- Pallor and general weakness
- Fatigue and reduced physical performance
- Jaundice (icterus): yellowing of the skin and eyes due to elevated bilirubin levels
- Splenomegaly: enlargement of the spleen
- Gallstones resulting from increased bilirubin metabolism
- Haemolytic crises: sudden worsening of symptoms, often triggered by infections or physical stress
In newborns, severe haemolysis can cause neonatal jaundice requiring prompt medical intervention.
Diagnosis
Diagnosis is based on clinical assessment combined with laboratory investigations:
- Full blood count: reveals anaemia (low haemoglobin levels)
- Reticulocyte count: elevated values indicate increased red blood cell production in response to haemolysis
- Bilirubin levels: elevated indirect bilirubin as a marker of haemolysis
- Enzyme activity assays: measurement of specific enzyme activity in red blood cells (e.g., pyruvate kinase activity)
- Molecular genetic testing: identification of the underlying mutation
Treatment
A complete cure is not available for most forms of the disease. Treatment is tailored to the severity of the condition:
- Blood transfusions: for severe anaemia or acute haemolytic crises
- Folic acid supplementation: to support increased red blood cell production
- Splenectomy: surgical removal of the spleen can reduce haemolysis in certain forms (e.g., pyruvate kinase deficiency)
- Chelation therapy: to manage iron overload resulting from repeated transfusions
- Stem cell transplantation: a potentially curative option in severe cases
- Gene therapy: currently in clinical development for certain forms, particularly pyruvate kinase deficiency
References
- World Health Organization (WHO): ICD-10 Version 2019, D55.2 – Anaemia due to disorders of glycolytic enzymes. Available at: https://icd.who.int/
- Grace R.F., Barcellini W. (2021): Management of pyruvate kinase deficiency in children and adults. Blood, 136(11):1241–1249. PubMed PMID: 32702755.
- Zanella A., Bianchi P. (2000): Red cell pyruvate kinase deficiency: from genetics to clinical manifestations. Bailliere's Best Practice & Research Clinical Haematology, 13(1):57–81.
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