LIC=liver iron concentration.
Data derived for the PK deficiency population drawn from the Pyruvate Kinase Deficiency NHS. The average age in the NHS was 19 years (range 0.1-69.9; n=254).1
*Patients were defined as not regularly transfused if they had received <6 transfusions in the 12 months prior to enrollment.2
†Chelation therapy may be indicated with ferritin >1000 ng/mL, LIC >3 mg/g dry weight liver, and/or cardiac iron ≤20 ms.2
‡Ferritin blood values may underestimate LIC.2
The Pyruvate Kinase Deficiency NHS was funded by Agios Pharmaceuticals.
FACIT-F=Functional Assessment of Chronic Illness Therapy-Fatigue.
§Due to the variability of the disease, case profiles are not reflective of every patient.
Dr Fertrin discusses the serious risk of iron overload.
The most typical complication is iron overload…There is evidence to show that patients with PK deficiency who were never transfused still develop iron overload with time.
Patients in the Natural History Study were defined as regularly transfused (≥6 transfusions) or not regularly transfused (<6 transfusions) in the 12 months prior to enrollment
Heart and liver MRI
Heart and liver MRI
I have been getting transfusions more often, and my iron has been high...and I know the risks that causes...That is a worrying thing.
References: 1. 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. 2. van Beers EJ, van Straaten S, Morton DH, et al. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. Haematologica. 2019;104(2):e51-e53. 3. 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. 4. Grace RF, Layton DM, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019;184(5):721-734. 5. 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. 6. Piperno A, Pelucchi S, Mariani R. Inherited iron overload disorders. Transl Gastroenterol Hepatol. 2020;5:25. doi:10.21037/tgh.2019.11.15 7. Ramakrishnan L, Pedersen SL, Toe QK, Quinlan GJ, Wort SJ. Pulmonary arterial hypertension: iron matters. Front Physiol. 2018;9:641. doi:10.3389/fphys.2018.00641