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| Disease found: | Pyruvate Kinase Deficiency |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | Deficiency in pyruvate kinase enzyme causing premature hemolysis of RBCs due to decreased ATP production [more info] |
| Signs and Symptoms: | Variable onset (neonatal to adulthood) of chronic hemolytic anemia, pallor, jaundice, hepatosplenomegaly. Gallstones are common. [more info] |
| Diagnosis: | Detection of hemolytic anemia (labs, blood smear); PK enzyme activity test. Test usually must be done at large specialty laboratories. |
| Treatment: | 2022 approval of PK enzyme activator mitapivat can reduce need for transfusions (Pyrukynd) [more]. Blood transfusions as needed for symptom control (not to meet hemoglobin threshold) [more]. Jaundiced neonates may need phototherapy and/or exchange transfusion. [more info] |
| Clinical Management: | Monitoring for iron overload in patients receiving frequent transfusions--chelation may be needed (therapeutic phlebotomy generally not tolerated). Splenectomy may be considered in patients needing frequent transfusions or with uncontrolled symptoms. In severe cases, intrauterine transfusion for an affected fetus can be considered. [more info] |
| Referral: | Know PK Deficiency hosts a list of hematologists trained in PK deficiency as well as info brochures. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | A small number of clinical trials are currently recruiting. Gene therapy is a current area of focus. |