Symptoms and Complications of PK Deficiency | For HCPs

Symptoms and Complications

Patients with PK Deficiency may present with a range of symptoms and potentially life-threatening complications1-3

PK Deficiency Symptoms in Human body PK Deficiency Symptoms in Human body

Additional complications can include4:

  • Dyspnea
  • Jaundice
  • Fatigue (can be severe in this population)
  • Cognitive difficulties
Even if hemoglobin levels are stable over time, tolerance of hemolytic anemia varies among patients, and throughout their lives1,5,6

The range and degree of symptoms and complications can pose significant risks, as well as obstacles to daily life4,7

Comorbidities and complications can occur at higher rates than in age- and gender-matched individuals from the general population2

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 Natural History Study was funded by Agios Pharmaceuticals.

Symptoms of PK deficiency in the body

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Symptoms of PK deficiency in the body

P<0.001.

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.

Tamara S., Minnesota

Patients are at risk for a range of complications, regardless of the degree of their anemia or transfusion history3,8

The burdens of PK deficiency are not always outwardly evident, but their impact may be felt across the domains of life4,9

PHYSICAL LIMITATIONS

  • Need for additional rest
  • Difficulty with exercise/sports
  • Difficulty climbing stairs/walking uphill
  • Susceptibility to illness

SOCIAL IMPACT

  • Negative impact on social activities
  • Negative impact on relationships
    with family/friends
  • Unwanted attention

ACTIVITIES OF
DAILY LIVING

  • Difficulty with household activities
  • Lack of motivation
  • Decreased productivity

EMOTIONAL IMPACT

  • Concern about the future
  • Anxiety and depression

APPEARANCE

  • Negative impact on appearance
Hemoglobin levels may not correlate with disease severity1,5

Find out why monitoring for iron overload is crucial

See the risks of iron overload

Find out why monitoring for iron overload is crucial

See the risks of iron overload

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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. Data on file. Agios Pharmaceuticals, Inc. Cambridge, MA. 3. Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from 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 [published online ahead of print March 12, 2020]. Haematologica. 2019;2019:240846. doi:10.3324/haematol.2019.240846. 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.