Special Populations in Pyruvate Kinase Deficiency

International Guidelines

Special Populations in Pyruvate Kinase Deficiency

Who is affected:  Adults and children with PK deficiency

Why it matters:

The demands of growth and development are increased during certain times of life creating extra stress on already-taxed anemic bodies. These rapid periods of growth, during infancy, childhood, adolescence, and pregnancy are considered high risk periods that deserve extra monitoring and attention.

Monitoring Chart:

Ideally, people with PK deficiency will have a multi-disciplinary team including a pediatrician or primary doctor along with a hematologist. Additional team members may include endocrine doctors, heart doctors, lung doctors, gastroenterologists, geneticists, infusion centers, dentists, nurses, social workers, and in the case of someone with PKD considering or becoming pregnant, a multidisciplinary fetal-maternal team. Hematologists monitor blood disease-related conditions but need the assistance of specialists for other chronic conditions and pregnancy.

Population with PK Deficiency

Examples of Symptoms and Findings requring Monitoring

Visit Your Doctor

Infants

  • Manage bilirubin levels
  • Growth
  • Every 2 weeks, 4 weeks, 12 weeks (about 3 months)
  • Transition to quarterly with a 2 month of age and 4 month of age visit

Children younger than 5 years of age

  • Growth
  • Every 3 months

Children 5 years and older, not receiving regular blood transfusions

  • Growth
  • Puberty
  • Enlarged spleen
  • Signs of ulcers
  • Every 6-12 months

Adults

  • See the section on “Management of Anemia in PK deficiency”
  • At least yearly

Considering becoming pregnant or already pregnant adults

  • Growth
  • Preterm delivery
  • Low birthweight delivery
  • Cesarean delivery
  • Complications

 

  • Get a referral to fetal-maternal team
  • Maintain a hemoglobin greater than 10 g/dL (this may create a need for more frequent red cell transfusions)

 

Bottom line:

Regular monitoring by hematologist and a multi-disciplinary health care team is necessary for people with PK deficiency to maintain growth during infancy, childhood, adolescence, and pregnancy, maintain optimal health, and decrease the risk of complications associated with PK deficiency.