Comorbidities and complications in adults with pyruvate kinase deficiency
Boscoe, Audra N; Yan, Yan; Hedgeman, Elizabeth; van Beers, Eduard J; Al-Samkari, Hanny; Barcellini, Wilma; Eber, Stefan W; Glader, Bertil; Yaish, Hassan M; Chonat, Satheesh; Sharma, Mukta; Kuo, Kevin H M; Neufeld, Ellis J; Wang, Heng; Verhovsek, Madeleine; Sheth, Sujit; Grace, Rachael F
(2021) European Journal of Haematology, volume 106, issue 4, pp. 484 - 492
(Article)
Abstract
OBJECTIVES: Pyruvate kinase (PK) deficiency is caused by PKLR gene mutations, leading to defective red blood cell glycolysis and hemolytic anemia. Rates of comorbidities and complications by transfusion history and relative to the general population remain poorly quantified. METHODS: Data for patients aged ≥ 18 years with two confirmed PKLR
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mutations were obtained from the PK deficiency Natural History Study (NCT02053480). Frequencies of select conditions were compared with an age- and sex-matched cohort from a general insured US population without PK deficiency. RESULTS: Compared with the matched population (n = 1220), patients with PK deficiency (n = 122) had significantly higher lifetime rates of osteoporosis, liver cirrhosis, and pulmonary hypertension; splenectomy and cholecystectomy rates were also significantly higher in the 8 years before the index date. Sixty-five (53.3%) patients with PK deficiency were classified as regularly transfused, 30 (24.6%) as occasionally transfused, and 27 (22.1%) as never transfused. Regularly transfused patients were significantly more likely than never transfused patients to have had splenectomy, cholecystectomy, and/or thrombosis. Liver iron overload was reported in 62% of patients and occurred regardless of transfusion cohort. CONCLUSIONS: Even never transfused patients with PK deficiency had higher rates of select comorbidities and complications than individuals without PK deficiency.
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Keywords: blood transfusion, comorbidity, pyruvate kinase deficiency, Hematology, Journal Article
ISSN: 0902-4441
Publisher: Wiley-Blackwell
Note: Funding Information: The Pyruvate Kinase deficiency Natural History Study was supported by research funding from Agios Pharmaceuticals, Inc. We would like to thank the patients taking part in the Pyruvate Kinase deficiency Natural History Study. Editorial assistance with manuscript preparation was provided by Christine Ingleby, PhD, CMPP, Excel Scientific Solutions, Horsham, UK, and supported by Agios Pharmaceuticals, Inc. Publisher Copyright: © 2020 Agios Pharmaceuticals, Inc. European Journal of Haematology Published by John Wiley & Sons Ltd
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