Pyruvate Kinase Deficiency Causing Priapism
Pyruvate kinase deficiency (PKD) is an autosomal recessive defect of the enzyme pyruvate kinase (PK) which is involved in catalyzing a reaction that produces ATP in the glycolytic pathway. It is the most common defect of the glycolytic pathway associated with congenital anemia. Patients usually pres...
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2023/6503311 |
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| author | Vinay Hanyalu Shankar Bharadwaj Adithya-Sateesh Nicole Gousy Girma Ayele Freyr Petursson Rediet Atalay Miriam Michael |
| author_facet | Vinay Hanyalu Shankar Bharadwaj Adithya-Sateesh Nicole Gousy Girma Ayele Freyr Petursson Rediet Atalay Miriam Michael |
| author_sort | Vinay Hanyalu Shankar |
| collection | DOAJ |
| description | Pyruvate kinase deficiency (PKD) is an autosomal recessive defect of the enzyme pyruvate kinase (PK) which is involved in catalyzing a reaction that produces ATP in the glycolytic pathway. It is the most common defect of the glycolytic pathway associated with congenital anemia. Patients usually present with signs of chronic hemolytic anemia such as hyperbilirubinemia, splenomegaly, reticulocytosis, and gallstones; the presentation can vary by age. Diagnosis is usually made by demonstration of decreased PK enzymatic activity in a spectrophotometric assay and on the detection of mutations in the PK-LR gene. Management strategies vary from full splenectomies to hematopoietic stem cell transplants with gene therapies with transfusions and administration of PK-activators coming in between. Thromboembolic complications do occur in patients with splenectomy, but there are not much data regarding this for patients with PKD. We present a case of a patient with PKD who demonstrated priapism to be a thromboembolic complication. This differs greatly as priapism has been frequently reported in patients with other chronic hemoglobinopathies such as sickle cell disease, thalassemia, and G6PD with and without splenectomy. While it is still unclear how splenectomies can result in thrombotic events in PKD, there does appear to be a correlation between splenectomies with resultant thrombocytosis with increased platelet adhesion. |
| format | Article |
| id | doaj-art-ff2ba7c61599416ea2f6076f4f16fd9d |
| institution | Kabale University |
| issn | 2090-6579 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-ff2ba7c61599416ea2f6076f4f16fd9d2025-02-03T01:29:33ZengWileyCase Reports in Hematology2090-65792023-01-01202310.1155/2023/6503311Pyruvate Kinase Deficiency Causing PriapismVinay Hanyalu Shankar0Bharadwaj Adithya-Sateesh1Nicole Gousy2Girma Ayele3Freyr Petursson4Rediet Atalay5Miriam Michael6Department of Internal MedicineAmerican University of Antigua College of MedicineAmerican University of Antigua College of MedicineDepartment of Internal MedicineDepartment of Emergency MedicineDepartment of Internal MedicineDepartment of Internal MedicinePyruvate kinase deficiency (PKD) is an autosomal recessive defect of the enzyme pyruvate kinase (PK) which is involved in catalyzing a reaction that produces ATP in the glycolytic pathway. It is the most common defect of the glycolytic pathway associated with congenital anemia. Patients usually present with signs of chronic hemolytic anemia such as hyperbilirubinemia, splenomegaly, reticulocytosis, and gallstones; the presentation can vary by age. Diagnosis is usually made by demonstration of decreased PK enzymatic activity in a spectrophotometric assay and on the detection of mutations in the PK-LR gene. Management strategies vary from full splenectomies to hematopoietic stem cell transplants with gene therapies with transfusions and administration of PK-activators coming in between. Thromboembolic complications do occur in patients with splenectomy, but there are not much data regarding this for patients with PKD. We present a case of a patient with PKD who demonstrated priapism to be a thromboembolic complication. This differs greatly as priapism has been frequently reported in patients with other chronic hemoglobinopathies such as sickle cell disease, thalassemia, and G6PD with and without splenectomy. While it is still unclear how splenectomies can result in thrombotic events in PKD, there does appear to be a correlation between splenectomies with resultant thrombocytosis with increased platelet adhesion.http://dx.doi.org/10.1155/2023/6503311 |
| spellingShingle | Vinay Hanyalu Shankar Bharadwaj Adithya-Sateesh Nicole Gousy Girma Ayele Freyr Petursson Rediet Atalay Miriam Michael Pyruvate Kinase Deficiency Causing Priapism Case Reports in Hematology |
| title | Pyruvate Kinase Deficiency Causing Priapism |
| title_full | Pyruvate Kinase Deficiency Causing Priapism |
| title_fullStr | Pyruvate Kinase Deficiency Causing Priapism |
| title_full_unstemmed | Pyruvate Kinase Deficiency Causing Priapism |
| title_short | Pyruvate Kinase Deficiency Causing Priapism |
| title_sort | pyruvate kinase deficiency causing priapism |
| url | http://dx.doi.org/10.1155/2023/6503311 |
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