Living With PK Deficiency

Living With PK Deficiency

Carlos Mendoza |Jan 26, 2026

Recognizing the Signs and Exploring Treatment Choices

Pyruvate kinase (PK) deficiency is a rare genetic blood disorder that affects red blood cells. People with PK deficiency don’t have enough of an enzyme called pyruvate kinase, which red blood cells need to make energy and survive. Without enough energy, red blood cells break down too early, leading to anemia. In recent years, new treatment options—most notably Pyrukynd—have changed how PK deficiency can be managed, giving many patients new hope.

This article explains the common signs and symptoms of PK deficiency and reviews current treatment options, starting with Pyrukynd.

Signs and Symptoms to Watch For

PK deficiency affects people differently. Some individuals have mild symptoms, while others experience more serious health problems. Symptoms can appear in infancy, childhood or adulthood, depending on how severe the condition is.

Fatigue and Weakness

One of the most common symptoms is ongoing tiredness. Because red blood cells carry oxygen throughout the body, anemia can leave muscles and organs without enough oxygen. This often causes low energy, weakness and difficulty keeping up with daily activities.

Pale Skin and Shortness of Breath

People with PK deficiency may look pale, especially in the face or hands. Shortness of breath can occur during physical activity—or even at rest—because the body is working harder to get enough oxygen.

Jaundice and Yellowing of the Eyes

When red blood cells break down too quickly, they release bilirubin. High bilirubin levels can cause jaundice, which appears as yellowing of the skin or whites of the eyes. Some people may also notice dark-colored urine.

Enlarged Spleen

The spleen helps remove damaged red blood cells from circulation. In PK deficiency, the spleen often becomes enlarged because it is overworked. This can cause abdominal discomfort, a feeling of fullness or pain on the left side of the abdomen.

Gallstones

High bilirubin levels over time increase the risk of gallstones. These can cause stomach pain, nausea or vomiting and may require medical treatment.

Symptoms in Babies and Children

In severe cases, symptoms may begin at birth or shortly after. Newborns may have severe jaundice or anemia that requires urgent treatment. Children with PK deficiency may experience slow growth, frequent fatigue or trouble keeping up physically with peers.

If symptoms worsen or interfere with daily life, it’s important to speak with a healthcare provider familiar with rare blood disorders.

Treatment Options for PK Deficiency

Treatment for PK deficiency depends on symptom severity, age and overall health. The goal is to reduce anemia, manage complications and improve quality of life.

Pyrukynd (Mitapivat)

Pyrukynd is the first approved oral treatment that targets the underlying cause of PK deficiency in many adults. Instead of only treating symptoms, Pyrukynd helps red blood cells work more efficiently by activating the pyruvate kinase enzyme.

For eligible patients, Pyrukynd can:

  • Increase hemoglobin levels.
  • Reduce fatigue and anemia-related symptoms.
  • Lower the need for blood transfusions in some people.

Pyrukynd is taken as a pill, making it more convenient than many traditional treatments. However, it is not suitable for everyone, and regular monitoring is required to manage side effects and ensure safety. A specialist can determine whether Pyrukynd is an appropriate option.

Blood Transfusions

For people with moderate to severe anemia, blood transfusions may be needed, sometimes regularly. Transfusions can quickly raise red blood cell levels and improve symptoms, but long-term use can lead to iron overload, which requires additional treatment.

Iron Chelation Therapy

Frequent transfusions can cause excess iron to build up in the body, potentially damaging organs like the heart and liver. Iron chelation therapy helps remove this extra iron and is often necessary for transfusion-dependent patients.

Splenectomy

In some cases, surgical removal of the spleen (splenectomy) may be recommended. This can reduce red blood cell destruction and improve anemia. However, removing the spleen increases the risk of infections, so this option requires careful consideration and lifelong precautions.

Supportive Care

Other treatments focus on managing symptoms and complications. These may include:

  • Folic acid supplements to support red blood cell production.
  • Monitoring and treatment of gallstones.
  • Vaccinations and infection prevention, especially for those without a spleen.

Living With PK Deficiency

While PK deficiency is a lifelong condition, treatment options have expanded significantly. With newer therapies like Pyrukynd and personalized care plans, many people are able to manage symptoms more effectively and lead fuller lives. Regular follow-up with a healthcare team experienced in rare blood disorders is key to staying healthy and addressing problems early.

If you or a loved one has PK deficiency, understanding the symptoms and available treatments is an important step toward better care and quality of life.

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