Risks can include iron overload, liver cirrhosis, osteoporosis, and thrombosis due to splenectomy
Understanding the burden of pyruvate kinase (PK) deficiency
PK deficiency experts explain the burden of disease, including complications and approaches to management.
Patients from the general population without hemolytic anemia were matched 10 to 1 to patients with PK deficiency on the basis of age, gender, and year of enrollment in the PK Deficiency Natural History Study (NHS).*
The Pyruvate Kinase Deficiency NHS was funded by Agios Pharmaceuticals.
ERT=ever regularly transfused; NRT=never regularly transfused; NT=never transfused.
* Data derived for the PK deficiency population drawn from the Pyruvate Kinase Deficiency NHS. To contextualize the findings, the frequencies of select conditions were compared with an age- and gender-matched cohort of individuals from the insured, general US population who did not have any hemolytic anemia diagnoses and had ≥5 years of continuous enrollment in the Truven MarketScan administrative claims database. The mean age for patients ERT (n=65) was 34.2 years, NRT (n=30) was 39.5 years, and NT (n=27) was 37.2 years at enrollment.2
The disease has affected my career. I spent 11 years to get a PhD in nutrition…My heart wants more but body can’t handle it.
References: 1. Zanella A, Fermo E, Bianchi P, Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br J Haematol. 2005;130(1):11-25. 2. Boscoe AN, Yan Y, Hedgeman E, et al. Comorbidities and complications in adults with pyruvate kinase deficiency. Poster presented at: The American Society of Hematology (ASH) Annual Meeting, December 7–10, 2019. Orlando, FL. 3. Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018;131(20):2183-2192. 4. Grace RF, Cohen J, Egan S, et al. The burden of disease in pyruvate kinase deficiency: patients’ perception of the impact on health-related quality of life. Eur J Haematol. 2018;101(6):758-765. 5. Grace RF, Layton DM, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019;184(5):721-734. 6. Al-Samkari H, van Beers EJ, Kuo KHM, et al. The variable manifestations of disease in pyruvate kinase deficiency and their management. Haematologica. 2020;105(9):2229-2239. 7. Grace RF, Zanella A, Neufeld EJ, et al. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol. 2015;90(9):825-830. 8. Bianchi P, Fermo E, Glader B, et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol. 2019;94(1):149-161 [supplementary online material]. 9. National Organization for Rare Disorders. Voice of the Patient Report: Pyruvate Kinase Deficiency. Washington, DC: National Organization for Rare Disorders; 2020.