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Pyruvate Kinase Deficiency: Clinical Expression and New Therapies

In many people with PK deficiency, even adults, the disease remains undiagnosed. It is rare enough that physicians who do not have it on their radar will never diagnose it. That is why it is important to evaluate for rare conditions such as PK deficiency when we see a patient who has Coombs-negative chronic hemolytic anemia, but no diagnosis. I have diagnosed PK deficiency in patients who are in their 50s and 60s and have experienced significant manifestations of their disease, which is remarkable for a congenital hemolytic anemia. We all need to be on the alert for these rare conditions.

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 Pyruvate Kinase Deficiency: Current and Prospective Treatment Options

Pyruvate kinase deficiency (PKD) is an autosomal recessive enzymopathy in erythrocytes caused by mutations in the PKLR gene. The clinical phenotype of the disease is nonspherocytic hemolytic anemia, characterized by both anemia- and treatment-related complications, including extramedullary hematopoiesis, iron overload, thrombosis, and pulmonary hypertension. Current management includes mainly supportive care interventions, notably chronic transfusions. Other disease-modifying therapies are currently in clinical trials, and show potential to reduce symptoms and prevent treatment-related complications.

Articles of Interest

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency

Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role.

Pyruvate Kinase Deficiency

Many cases do not require treatment, but transfusion, splenectomy and allogeneic stem cell transplants are sometimes used in the management of these patients. Pyruvate kinase deficiency patients can experience iron overload, due to dyserythropoiesis or frequent blood transfusions.

Pyruvate kinase deficiency in children

Pyruvate kinase deficiency (PKD) is the second most common red blood cell (RBC) enzyme disorder causing hereditary hemolytic anemia after glucose-6-phosphate dehydrogenase (G6PD) deficiency.

Pyruvate Kinase Deficiency: Current Challenges and Future Prospects

Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disease marked by chronic hemolytic anemia of various severity and frequent complications including gallstones, splenomegaly, iron overload, and others. Disease phenotype is highly heterogeneous and changes over time with children, adolescents and adult patients displaying different transfusion requirement and rates of complications. The diagnosis relies on the initial clinical suspicion in a patient with chronic hemolysis and exclusion of other more common congenital forms of hemolytic anemias...

Pyruvate Kinase Deficiency: Current Challenges and Future Prospects

The diagnosis relies on the initial clinical suspicion in a patient with chronic hemolysis and exclusion of other more common congenital forms of hemolytic anemias; it is supported by the demonstration of reduced PK enzyme activity, and further confirmed by the detection of (homozygous or compound heterozygous) mutations of PKLR gene. Therapy is mainly supportive.

Understanding Pyruvate Kinase Deficiency (PKD) & Hemolytic Anemia

Receiving a diagnosis of Pyruvate Kinase Deficiency (PKD) can feel overwhelming, especially since it is a rare condition that many people—and even some doctors—have never heard of. It is important to know that while PKD is a lifelong condition, it is treatable, and having a clear diagnosis is the most critical step toward getting the right care.

Resources

PKD Guidelines

Pyruvate kinase deficiency anemia can range from mild to severe, depending on the individual. While living with this condition can be challenging, there are treatments available. Treatment options may include transfusions, spleen removal, and emerging therapies that stabilize red blood cell production. At PKD Guidelines, we strive to provide the most up-to-date information on managing and living with this condition to help individuals lead healthier lives.

MedlinePlus

There are many different types of enzyme-related defects of the red blood cell that can cause hemolytic anemia. PKD is the second most common cause, after glucose-6-phosphate dehydrogenase (G6PD) deficiency.

NORD

It is one of a group of diseases known as hereditary nonspherocytic hemolytic anemias. (Nonspherocytic refers to the fact that the red blood cells do not assume a spherical shape, as they do with some blood disorders.

StatPearls

Pyruvate kinase deficiency (PKD) is the most common enzyme-related glycolytic defect that results in red cell hemolysis. Invariably, PKD results in hereditary non-spherocytic anemia.