D55.21
Anemia due to pyruvate kinase deficiency
Clinical Classification Guidelines
Inclusion Terms
- PK deficiency anemia
- Pyruvate kinase deficiency anemia
Medical Intelligence & Overview
Anemia due to pyruvate kinase deficiency is a hereditary blood disorder that affects the production of energy in red blood cells. Pyruvate kinase is an enzyme essential for the survival and proper functioning of these cells. When this enzyme is deficient, red blood cells become fragile and break down prematurely, leading to anemia—a condition characterized by a shortage of healthy red blood cells. This guide provides a patient-friendly overview of this condition, including its causes, symptoms, diagnosis, and treatment options.
Causes & Symptoms
Clinical Causes: Genetic mutations: The condition is inherited in an autosomal recessive pattern, meaning a person needs to inherit two copies of the mutated gene to develop the disease. Enzyme deficiency: The defect causes a reduced activity of the pyruvate kinase enzyme in red blood cells. Family history: Individuals with relatives who have the condition are at increased risk. Potentially, specific gene mutations affecting the enzyme's production contribute directly to the deficiency.
Key Symptoms: Fatigue and weakness due to decreased oxygen delivery to tissues. Paleness of the skin and mucous membranes. Shortness of breath, especially during exertion. Rapid heart rate or palpitations. Jaundice, which causes yellowing of the skin and eyes due to the breakdown of red blood cells. Splenomegaly (enlargement of the spleen). Dark-colored urine resulting from the breakdown products of red blood cells. Delayed growth and development in children in some cases.
Diagnostic & Treatment
Diagnosis Path: Diagnosing this form of anemia involves a combination of medical history, physical examination, and laboratory tests, such as: - Complete blood count (CBC): to evaluate red blood cell count and hemoglobin levels. - Blood smears: to examine the shape and appearance of red blood cells. - Enzyme activity tests: measuring pyruvate kinase activity in red blood cells. - Genetic testing: to identify mutations in the PKLR gene responsible for pyruvate kinase production. - Reticulocyte count: to assess bone marrow response to anemia. These tests help confirm the diagnosis and distinguish it from other types of hemolytic anemias.
Treatment Protocols: Management of anemia caused by pyruvate kinase deficiency focuses on alleviating symptoms and preventing complications, which may include: - Supportive care: including transfusions of red blood cells during severe anemia episodes. - Folic acid supplements: to support red blood cell production. - Splenectomy (removal of the spleen): considered when frequent hemolytic episodes occur, to reduce red blood cell destruction. - Avoiding triggers: such as infections and certain medications that can exacerbate anemia. - Experimental therapies and gene therapy: under research, aiming to address the genetic cause. Regular medical follow-up is important to monitor the condition and adjust treatment as needed.
Clinical Advice & FAQs
Billing Guidance
Is D55.21 a billable ICD-10 code?
Yes, D55.21 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report D55.21?
Clinical documentation must specify the nature of Anemia due to pyruvate kinase deficiency and any associated comorbidities for accurate reporting.
Cite this Clinical Reference