Monitoring PK Deficiency | Know PK Deficiency

Monitoring PK Deficiency

Know the tests for monitoring your complications

Regular evaluations can help make sure you’re getting the right care. Many assessments to monitor PK deficiency are done on a yearly basis, but some need to be done more often based on transfusion frequency, the need for chelation therapy, and discoveries from previous tests. Explore the key terms used on this page

Testing for complications

gallbladder

Gallstones
Monitored by ultrasound if there is new or worsening abdominal pain, worsening jaundice, or other related symptoms.

liver

Iron damage to the heart or liver
Monitored by a yearly T2* MRI scan. Patients who receive regular transfusions, or who need chelation therapy, may need to be assessed more frequently.

bone

Osteopenia and osteoporosis
A DXA should be done in early adulthood. Results of the scan determine how often the test should be repeated.

lungs

Pulmonary hypertension
An echocardiogram should be done by age 30. Doctors determine if the test needs to be repeated based on what the picture shows.

calendar

Extramedullary hematopoiesis
A visual exam is performed regularly, with further testing if there is unexplained swelling, back pain, or symptoms that indicate signs of nerve damage, such as numbness, tingling, burning, or shooting pain.

blood-test

Blood tests, at least annually, for:

  • Degree of anemia (hemoglobin levels)
  • Iron overload (ferritin levels)
  • Vitamin D levels (to help assess bone health)
  • Viruses, such as HIV, and hepatitis A, B, and C (for people who receive regular transfusions)

If there is evidence of iron overload, your doctor may do additional blood tests to check hormone levels. Iron overload can affect sex hormones or cause changes that contribute to thyroid problems or diabetes.

Help build a monitoring schedule with your doctor. Download and print this page.

Extramedullary hematopoiesis: Blood cell production occurring outside of the bone marrow, in organs such as the liver or spleen, due to the excessive production of RBCs daily


DXA (or DEXA) scan: An X-ray performed to assess bone strength


MRI: A scan performed to look for iron overload in the liver and heart


Abdominal ultrasound: A test that can be performed to look for gallstones or other complications involving the gallbladder


Echocardiogram (echo): A test assessing heart function and signs of pulmonary hypertension


DID YOU KNOW?

The need and timing of tests varies for everyone. Talk with your doctor about each test to determine a monitoring plan.

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