Pyruvate kinase deficiency
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Pyruvate kinase deficiency
Blood and lymphoreticular system
Anemia, cytopenias, and polycythemia anemias
Acute intermittent porphyria
Porphyria cutanea tarda
Autoimmune hemolytic anemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemolytic disease of the newborn
Hereditary spherocytosis
Paroxysmal nocturnal hemoglobinuria
Pyruvate kinase deficiency
Sickle cell disease (NORD)
Fanconi anemia
Folate (Vitamin B9) deficiency
Megaloblastic anemia
Vitamin B12 deficiency
Alpha-thalassemia
Anemia of chronic disease
Beta-thalassemia
Iron deficiency anemia
Lead poisoning
Sideroblastic anemia
Anemia of chronic disease
Aplastic anemia
Diamond-Blackfan anemia
Fanconi anemia
Aplastic anemia
Immune thrombocytopenia
Leukemoid reaction
Polycythemia vera (NORD)
Coagulation disorders (hypercoaguable and hypocoaguable conditions)
Antiphospholipid syndrome
Antithrombin III deficiency
Factor V Leiden
Protein C deficiency
Protein S deficiency
Hemophilia
Vitamin K deficiency
Disseminated intravascular coagulation
Heparin-induced thrombocytopenia
Von Willebrand disease
Bernard-Soulier syndrome
Glanzmann's thrombasthenia
Hemolytic-uremic syndrome
Immune thrombocytopenia
Thrombotic thrombocytopenic purpura
Infectious and immunologic disorders
Neoplasms
Langerhans cell histiocytosis
Mastocytosis (NORD)
Essential thrombocythemia (NORD)
Myelodysplastic syndromes
Myelofibrosis (NORD)
Polycythemia vera (NORD)
Acute leukemia
Chronic leukemia
Hodgkin lymphoma
Non-Hodgkin lymphoma
Monoclonal gammopathy of undetermined significance
Multiple myeloma
Waldenstrom macroglobulinemia
Traumatic, mechanical, and vascular disorders
Blood and lymphoreticular system pathology review
Extrinsic hemolytic normocytic anemia: Pathology review
Heme synthesis disorders: Pathology review
Intrinsic hemolytic normocytic anemia: Pathology review
Macrocytic anemia: Pathology review
Microcytic anemia: Pathology review
Non-hemolytic normocytic anemia: Pathology review
Coagulation disorders: Pathology review
Mixed platelet and coagulation disorders: Pathology review
Platelet disorders: Pathology review
Thrombosis syndromes (hypercoagulability): Pathology review
Leukemias: Pathology review
Lymphomas: Pathology review
Myeloproliferative disorders: Pathology review
Plasma cell disorders: Pathology review
Flashcards
Pyruvate kinase deficiency
0 of 5 complete
Questions
USMLE® Step 1 style questions USMLE
0 of 1 complete
A 38-year-old man comes to the clinic complaining of fatigue, jaundice, and shortness of breath. Medical history is noncontributory. Temperature is 37°C (98.6°F), pulse is 84/min, respirations are 16/min, and blood pressure is 130/80 mmHg. Physical examination shows scleral icterus. No hepatosplenomegaly is noted. Laboratory tests are obtained, and the results are shown below.
Direct Coombs test is negative. Serum 2,3-bisphosphoglycerate levels are increased. Which of the following is most likely to be found on further evaluation?
| Laboratory value | Result | Reference Range |
| Hematologic | ||
| Hemoglobin | 8.3 g/dL | 13.5-17.5 g/dL |
| Mean corpuscular volume (MCV) | 96 fL | 80-100 fL |
| Platelet count | 210,000/mm3 | 150,000-400,000/mm3 |
| Leukocyte count | 9,500/mm3 | 4,500-11,000/mm3 |
| Reticulocyte count | 8.6% | 0.5-1.5% |
Direct Coombs test is negative. Serum 2,3-bisphosphoglycerate levels are increased. Which of the following is most likely to be found on further evaluation?
Key Takeaways
Pyruvate kinase deficiency is an inherited disorder caused by a mutation in the gene that codes for the enzyme pyruvate kinase. This enzyme is responsible for catalyzing the breakdown of glucose to form pyruvate. Without functional pyruvate kinase, the body is unable to properly convert glucose into energy, which affects the survival of red blood cells and causes them to break down (hemolysis). Symptoms include anemia, fatigue, splenomegaly, and jaundice. Treatment options include blood transfusions, splenectomy for massive splenomegaly, or allogeneic bone marrow transplantation.