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CME: Pyruvate kinase deficiency (PKD): zeroing in on gaps in identification and treatment


Activity Description / Statement of Need:

In this online, self-learning activity:

Pyruvate kinase (PK) is an enzyme that plays a major role in a metabolic pathway integral to the production of ATP, and a deficiency in the enzyme (PKD) is one of the most common enzyme-related glycolytic defects in a pathway integral to the production of ATP. It is transmitted as an autosomal recessive trait and is caused by mutations in the PKLR gene on chromosome 1, and over one hundred eighty of these mutations have been associated with PKD. While PKD affects approximately five people of European descent per 100,000 (data in other patient populations are lacking), it is one of the more frequent causes of chronic hemolysis. Anemia arising from the condition may range from mild and fully compensated to life-threatening in severity.

Target Audience:

Healthcare professionals specializing in: hematology; nurse practitioners, physician assistants, and pharmacists who specialize in hematology; and those who otherwise commonly care for or clinically encounter patients with PKD.


Commercial Support Disclosure: This program is supported by an educational grant from Agios.

This activity is free of charge.

Release Date: May 12, 2022 -- Expiration Date: May 12, 2024

Faculty: Sujit Sheth , MD


Faculty introduction, disclosures

PKD introductory content

  • Epidemiology
  • Pathophysiology, clinical presentation, differential diagnosis, and diagnosis

·       PK-specific testing

·       Chronic hemolysis-related complications and iron overload

·       Barriers to diagnosis

Treatment of PKD

  • Treatment goals and overview of care
  • Approaches to anemia – the roles of:

·       Transfusions

·       Phototherapy,

·       Folic acid

·       Splenectomy

  • Management of iron overload
  • Emerging therapies

·       Allogeneic stem cell transplant

·       CRISPR-mediated correction of PKLR mutation

·       RBC PK activator therapy

  • Barriers to care and addressing quality of life concerns
  • Patient cases

Conclusions and best practice recap

Learning Objectives

By the end of the session the participant will be able to:

  • Recall challenges associated with the diagnosis and treatment of patients with PKD.
  • Identify and summarize the efficacy of diagnostic and current and emerging treatment strategies for PKD.
  • Formulate a treatment plan for a patient with PKD


ACCME Activity #202290869


Faculty Disclosure and Resolution of COI

As a provider of continuing medical education, it is the policy of ScientiaCME to ensure balance, independence, objectivity, and scientific rigor in all of its educational activities. In accordance with this policy, faculty and educational planners must disclose any significant relationships with commercial interests whose products or devices may be mentioned in faculty presentations, and any relationships with the commercial supporter of the activity. The intent of this disclosure is to provide the intended audience with information on which they can make their own judgments. Additionally, in the event a conflict of interest (COI) does exist, it is the policy of ScientiaCME to ensure that the COI is resolved in order to ensure the integrity of the CME activity. For this CME activity, any COI has been resolved thru content review by ScientiaCME.

Faculty Disclosure:

Sujit Sheth , M.D., has received financial compensation for consulting and/or research work from: Agios,  BMS, Celgene, Acceleron, Chiesi, Bluebird bio, Vertex, Imara, Forma, Dispersol,  and Phoenicia Bio.

Disclosures of Educational Planners: Charles Turck, PharmD, BCPS, BCCCP, President of ScientiaCME, has no relevant financial disclosures.

Faculty will discuss off-label uses.

All relevant financial relationships have been mitigated.

ScientiaCME adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CE activity, including faculty, planners, reviewers or others are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity.

Commercial Support Disclosure: This program is supported by an educational grant from Agios.


  • Read the learning objectives above
  • Take the Pre-Test (optional). Completion of the pre-test will help us evaluate the knowledge gained by participating in this CME activity.
  • View the online activity. You may view this is in more than one session, and may pause or repeat any portion of the presentation if you need to.
  • Minimum participation threshold: Take the post-test. A score of 70% or higher is required to pass and proceed to the activity evaluation.
  • Complete the activity evaluation and CME registration. A CE certificate will be emailed to you immediately.

Cultural/Linguistic Competence & Health Disparities

System Requirements

Windows 7 or above
Internet Explorer 8
*Adobe Acrobat Reader
Mac OS 10.2.8
Safari or Chrome or Firefox
*Adobe Acrobat Reader
Internet Explorer is not supported on the Macintosh

*Required to view Printable PDF Version

Perform Pre-Test (optional)

Please take a few minutes to participate in the optional pre-test. It will help us measure the knowledge gained by participating in this activity.