Summary about Disease
Pyruvate kinase deficiency (PKD) is an inherited metabolic disorder that primarily affects red blood cells. It's caused by a lack of the enzyme pyruvate kinase (PK), which is crucial for the proper metabolism of red blood cells. This deficiency leads to chronic hemolytic anemia, meaning that red blood cells are destroyed faster than the body can produce them.
Symptoms
Symptoms can vary in severity. Common symptoms include:
Anemia (fatigue, weakness, pale skin, shortness of breath)
Jaundice (yellowing of the skin and eyes)
Splenomegaly (enlarged spleen)
Gallstones
Delayed growth and development (in severe cases)
Dark urine
Causes
PKD is caused by mutations in the PKLR gene, which provides instructions for making the pyruvate kinase enzyme. The condition is inherited in an autosomal recessive pattern. This means an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Individuals with only one copy of the mutated gene are carriers and usually do not show symptoms.
Medicine Used
There is no specific medication to cure PKD. Treatment is focused on managing the symptoms and complications of the disease.
Blood Transfusions: Used to treat severe anemia.
Splenectomy: Surgical removal of the spleen may reduce the rate of red blood cell destruction and improve anemia, but it also increases the risk of infections.
Iron Chelation Therapy: May be required in individuals who receive frequent blood transfusions to prevent iron overload.
Folic Acid Supplementation: To support red blood cell production.
Experimental Therapies: Research is ongoing to explore gene therapy and other novel treatments.
Is Communicable
No. Pyruvate kinase deficiency is not communicable. It is a genetic disorder, meaning it is inherited from parents and cannot be spread from person to person.
Precautions
Precautions focus on managing the condition and preventing complications:
Regular Medical Checkups: To monitor anemia and other complications.
Vaccinations: To prevent infections, especially after splenectomy.
Avoiding Iron Supplements (unless specifically prescribed): To prevent iron overload if receiving frequent transfusions.
Genetic Counseling: For families with a history of PKD to understand the risk of passing the condition to their children.
Inform Medical Professionals: Ensure all healthcare providers are aware of the PKD diagnosis, especially before surgery or other procedures.
How long does an outbreak last?
PKD is not an outbreak situation. It is a chronic, lifelong condition. The severity of symptoms can vary over time, but the underlying genetic defect persists.
How is it diagnosed?
Diagnosis typically involves:
Complete Blood Count (CBC): Shows anemia.
Peripheral Blood Smear: Examination of red blood cells under a microscope may show abnormal shapes (e.g., echinocytes).
Reticulocyte Count: Elevated, indicating the bone marrow is trying to compensate for the red blood cell destruction.
Pyruvate Kinase Enzyme Assay: Measures the activity of the pyruvate kinase enzyme in red blood cells. Low activity confirms the diagnosis.
Genetic Testing: To identify mutations in the PKLR gene.
Liver Function Tests: To assess for liver damage from iron overload or gallstones.
Timeline of Symptoms
The onset and progression of symptoms can vary.
Neonatal Period: Severe cases can present with jaundice and anemia at birth or shortly thereafter.
Infancy/Childhood: Milder cases may not be diagnosed until later in infancy or childhood, with symptoms such as fatigue, pale skin, and splenomegaly becoming noticeable.
Adulthood: Some individuals with mild PKD may remain undiagnosed until adulthood, potentially experiencing episodes of anemia during illness or pregnancy.
Symptoms are generally chronic, with periods of exacerbation and relative stability. The timeline is highly individual.
Important Considerations
PKD management is individualized based on the severity of the condition.
Splenectomy can improve anemia but carries a risk of long-term complications, particularly overwhelming post-splenectomy infection (OPSI).
Regular monitoring for iron overload is important in individuals receiving frequent blood transfusions.
Individuals with PKD should avoid oxidant drugs and substances that can trigger hemolysis (red blood cell destruction).
Genetic counseling is recommended for families with PKD to understand the inheritance pattern and risk of recurrence.
Research into new therapies, such as gene therapy, offers hope for improved treatment options in the future.