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D55.8 - Anaemia Due to Other Enzyme Disorders
D55.8 is an ICD-10 code for other anaemias due to enzyme disorders. This rare form of anaemia is caused by genetic defects affecting enzymes in red blood cells.
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D55.8 is an ICD-10 code for other anaemias due to enzyme disorders. This rare form of anaemia is caused by genetic defects affecting enzymes in red blood cells.
What is D55.8?
The ICD-10 code D55.8 refers to other anaemias due to enzyme disorders that do not fall under the more specific subcategories of D55 (such as glucose-6-phosphate dehydrogenase deficiency or pyruvate kinase deficiency). It covers a group of rare, mostly hereditary haemolytic anaemias in which a genetic defect in an enzyme involved in red blood cell (erythrocyte) metabolism leads to their premature destruction.
Causes
The conditions classified under D55.8 are typically caused by autosomal recessive enzyme defects. Affected enzymes may include:
- Triosephosphate isomerase deficiency: A very rare defect in the glycolytic pathway that causes haemolytic anaemia and, in addition, progressive neurological symptoms.
- Phosphoglycerate kinase deficiency: Another glycolytic enzyme defect that can lead to haemolysis and, in some cases, neurological impairment.
- Other defects of glycolysis or the pentose phosphate pathway that are not separately classified under ICD-10.
The common feature of all these conditions is that the disrupted energy metabolism within the erythrocytes causes them to be broken down prematurely, resulting in anaemia.
Symptoms
Symptoms may vary depending on the specific enzyme defect involved, but typically include:
- Haemolytic anaemia: Fatigue, weakness, pallor, and shortness of breath due to a reduced number of oxygen-carrying red blood cells.
- Jaundice (icterus): Yellowing of the skin and eyes caused by elevated bilirubin levels resulting from haemoglobin breakdown.
- Splenomegaly: Enlargement of the spleen, which works harder to remove destroyed red blood cells from circulation.
- Haemolytic crises: Acute episodes of increased red blood cell destruction, often triggered by infections, certain medications, or oxidative stress.
- Additional organ-specific symptoms, such as neurological manifestations in triosephosphate isomerase deficiency.
Diagnosis
Diagnosing an enzyme-related anaemia requires a systematic approach:
- Complete blood count (CBC): Reveals anaemia with elevated reticulocyte count (immature red blood cells indicating increased bone marrow activity).
- Haemolysis markers: Elevated bilirubin and lactate dehydrogenase (LDH), reduced haptoglobin.
- Enzyme activity assay: Specific laboratory tests measuring the activity of suspected enzymes directly in erythrocytes.
- Molecular genetic testing: Identification of the causative gene mutation to confirm the diagnosis and enable genetic counselling.
- Exclusion of other causes: Differentiation from other haemolytic anaemias such as hereditary spherocytosis, thalassaemia, or autoimmune haemolytic anaemia.
Treatment
A curative treatment addressing the underlying gene defect is not available for most enzyme deficiency anaemias classified under D55.8. Management is therefore primarily symptomatic and supportive:
- Blood transfusions: Used in cases of severe anaemia or haemolytic crises to temporarily restore adequate red blood cell levels.
- Folic acid supplementation: Supports increased bone marrow activity and red blood cell production.
- Avoidance of triggers: Identifying and avoiding medications or dietary factors known to precipitate haemolytic episodes.
- Splenectomy: Surgical removal of the spleen may reduce haemolysis in selected patients.
- Stem cell transplantation: Allogeneic stem cell transplantation may be a curative option in severe cases, particularly in paediatric patients.
References
- World Health Organization (WHO): International Classification of Diseases, 10th Revision (ICD-10) - D55 Anaemia due to enzyme disorders. WHO, Geneva.
- Zanella A, Bianchi P. - Red cell pyruvate kinase deficiency: from genetics to clinical manifestations - Baillieres Best Pract Res Clin Haematol. 2000;13(1):57-81. PMID: 10916676.
- Luzzatto L, Nannelli C, Notaro R. - Glucose-6-Phosphate Dehydrogenase Deficiency - Hematol Oncol Clin North Am. 2016;30(2):373-393. PMID: 27040958.
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