Prädilektion des Malleolus medialis beim mit hämolytischer Anämie assoziierten Ulcus cruris

Sawhney,; Weedon,; Gillette,; Solomon,; Braverman,

doi:10.1024/0301-1526.31.3.191

Cited by 15 publications

(1 citation statement)

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“…Extramedullary hematopoietic masses can also be mistaken for malignant tumors, especially in undiagnosed patients. As in other hemolytic anemias, patients with PKD can develop lowerextremity ulcers, usually medial in association with the medial malleolus, 29 which can be slow to heal or even fail to heal ( Figure 2 ). There are no data to guide the management of leg ulcers in PKD, so ulcers are managed similarly to those seen in sickle cell disease or thalassemia.…”

Section: Diagnostic Challengesmentioning

confidence: 99%

The variable manifestations of disease in pyruvate kinase deficiency and their management

et al. 2020

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Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia and results in a broad spectrum of disease. The diagnosis of PKD requires a high index of suspicion and judicious use of laboratory tests that may not always be informative, including pyruvate kinase enzyme assay and genetic analysis of the PKLR gene. A significant minority of patients with PKD have occult mutations in non-coding regions of PKLR which are missed on standard genetic tests. The biochemical consequences of PKD result in hemolytic anemia due to red cell pyruvate and ATP deficiency while simultaneously causing increased red cell 2,3-diphosphoglycerate, which facilitates oxygen unloading. This phenomenon, in addition to numerous other factors such as genetic background and differences in splenic function result in a poor correlation between symptoms and degree of anemia from patient to patient. Red cell transfusions should, therefore, be symptom-directed and not based on a hemoglobin threshold. Patients may experience specific complications, such as paravertebral extramedullary hematopoiesis and chronic debilitating icterus, which require personalized treatment. The decision to perform splenectomy or hematopoietic stem cell transplantation is nuanced and depends on disease burden and long-term outlook given that targeted therapeutics are in development. In recognition of the complicated nature of the disease and its management and the limitations of the PKD literature, an international working group of ten PKD experts convened to better define the disease burden and manifestations. This article summarizes the conclusions of this working group and is a guide for clinicians and investigators caring for patients with PKD.

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Section: Diagnostic Challengesmentioning

confidence: 99%