The current approach includes supportive care and management of complications, strategies that may be insufficient for many patients1
Current supportive care strategies may pose risks or create quality-of-life issues
SPLENECTOMY
BENEFIT
RISKS AND LIMITATIONS
-
Confers lifelong risk of sepsis and thromboembolic disease
-
Does not address root cause of hemolysis; risk of aplastic crises, gallstones, and iron overload remain
-
May not confer improvements in anemia; patients may still require regular transfusions
RBC transfusion
BENEFIT
RISKS AND LIMITATIONS
-
Risk of iron overload remains
-
Poses quality-of-life issues related to transfusion burden
-
Does not address root cause of hemolysis
Variability of symptoms and complications should inform management decisions1,2
- Supportive care should be based on individual patient needs
- Disease burden and progression can be unpredictable throughout patients’ lives
Strategies for managing the complications of PK deficiency1
Chelation therapy
- Necessary for regularly transfused patients
-
Regular evaluations of ferritin levels should be performed in patients who are not regularly transfused to determine if chelation is appropriate
Cholecystectomy
-
Gallstones are a frequent complication in
PK deficiency
-
Regular screening by ultrasound for gallstones prior to splenectomy is recommended
Allogeneic hematopoietic stem cell transplant1
- Not recommended, nor is it widely used due to high mortality risk
Case Profile*: Burden Over Lifespan3
Childhood
Diagnosed with PK deficiency in childhood; transfusion-dependent until splenectomized at age 8
Age 8 to 49
5 RBC transfusions total
Nonsmoker; experiences decreased exercise tolerance, despite no changes to baseline hemoglobin, during her late 40s
Age 52
Receiving regular RBC transfusion (2 units every 8 weeks) to raise hemoglobin above 10.0 g/dL
Age 54
Requires 2 RBC units every 6 weeks
Understand the variations of PK deficiency
Understand the variations of PK deficiency
SPLENECTOMY