Comorbidities and complications in adults with pyruvate kinase deficiency.

Creator(s)

Audra N. Boscoe
Yan Yan
Elizabeth Hedgeman
Eduard J. van Beers
Hanny Al-Samkari
Wilma Barcellini
Stefan W. Eber
Bertil Glader
Hassan M. Yaish
Satheesh Chonat
Mukta Sharma, Children's Mercy HospitalFollow
Kevin H M Kuo
Ellis J. Neufeld
Heng Wang
Madeleine Verhovsek
Sujit Sheth
Rachael F. Grace

Document Type

Article

Publication Date

4-2021

Identifier

DOI: 10.1111/ejh.13572; PMCID: PMC7985869

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 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.

Journal Title

European journal of haematology

Volume

106

Issue

4

First Page

484

Last Page

492

Keywords

blood transfusion; comorbidity; pyruvate kinase deficiency

Comments

Grant support

• Agios Pharmaceuticals, Inc.

This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

Publisher's Link: https://onlinelibrary.wiley.com/doi/10.1111/ejh.13572

Recommended Citation

Boscoe AN, Yan Y, Hedgeman E, et al. Comorbidities and complications in adults with pyruvate kinase deficiency. Eur J Haematol. 2021;106(4):484-492. doi:10.1111/ejh.13572