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Pyruvate kinase deficiency (PKD) is a rare genetic disorder that impairs the function of the pyruvate kinase enzyme in red blood cells, leading to hemolytic anemia and, in some cases, severe organ damage due to the accumulation of metabolic byproducts. The clinical management of PKD primarily focuses on controlling hemolysis, managing anemia, and preventing or treating complications such as organ damage. The introduction of *Mitapivat*, an oral pyruvate kinase activator, has brought a new dimension to treatment and may play a crucial role in managing this disorder. Place of Mitapivat in the Guidelines Mitapivat has been approved as a treatment option for PKD, particularly in adult patients with moderate to severe anemia due to the disease. As a small molecule that activates the pyruvate kinase enzyme, Mitapivat works by increasing the enzyme's activity, which enhances red blood cell survival and reduces hemolysis. In clinical trials, Mitapivat has shown significant efficacy in improving hemoglobin levels and reducing transfusion dependency in PKD patients. The introduction of Mitapivat into clinical practice provides a significant advancement in the treatment of PKD, especially for patients who do not respond to or are intolerant of traditional therapies like blood transfusions or splenectomy. As guidelines evolve, the role of Mitapivat may become central to the treatment of PKD, particularly for those with persistent anemia or complications associated with chronic hemolysis. However, Mitapivat is not a cure for PKD, and its use may need to be accompanied by supportive treatments such as blood transfusions, iron chelation therapy (to prevent iron overload from frequent transfusions), and management of other complications like gallstones. It’s also essential to monitor for potential side effects, such as liver enzyme abnormalities, as seen in some clinical trials. Organ Damage Guidance Organ damage in PKD is often secondary to chronic hemolysis and anemia. The constant breakdown of red blood cells can lead to a range of complications, including: - Splenomegaly: Enlargement of the spleen is a common consequence of PKD, as the spleen works to remove the defective red blood cells. Splenectomy, or partial removal of the spleen, has historically been used in severe cases to reduce hemolysis and alleviate symptoms, though it carries risks, including susceptibility to infections. - Iron Overload: Chronic anemia often necessitates blood transfusions, which can lead to iron overload. Excess iron can accumulate in vital organs, including the liver, heart, and endocrine glands, resulting in further damage. Iron chelation therapy is an important component of managing PKD, especially in patients who are dependent on regular transfusions. - Renal Complications: While less common, kidney damage can occur in PKD, potentially due to iron overload or direct effects of hemolysis. Monitoring renal function is crucial, and treatment may include addressing iron buildup or other underlying factors. - Gallstones: Patients with PKD are at higher risk for developing gallstones due to the increased breakdown of red blood cells and the resulting excess bilirubin. Management may include monitoring for gallstones and considering cholecystectomy if necessary. In the context of Mitapivat, the clinical management of organ damage should focus on regular screening for complications and proactive management of iron overload. As Mitapivat helps to reduce the need for transfusions, it may decrease the risk of iron-related damage over time. However, close monitoring for potential side effects, particularly liver function, remains important. Additionally, in patients with existing organ damage, careful management and regular follow-up are necessary to mitigate further complications and improve long-term outcomes. Conclusion The inclusion of Mitapivat in the treatment guidelines for PKD represents a promising advance in the clinical management of this condition. By targeting the underlying metabolic defect in pyruvate kinase, Mitapivat can reduce hemolysis, improve anemia, and potentially reduce the need for transfusions, thereby lowering the risk of iron overload and organ damage. As with all treatments, its use should be carefully tailored to individual patient needs, with ongoing monitoring for side effects and complications. Ultimately, Mitapivat's role in PKD treatment may continue to expand as more clinical data emerges, offering hope for improved quality of life and better management of organ damage in affected patients.

The treatment of anemia in low-risk myelodysplastic syndrome (MDS) is a nuanced challenge, as it involves balancing symptom relief with the goal of slowing disease progression. MDS is a group of hematologic disorders characterized by ineffective hematopoiesis, leading to blood cell abnormalities and often, anemia. In low-risk MDS, the bone marrow dysfunction is usually less severe, and patients often experience mild to moderate anemia without the more aggressive features seen in higher-risk MDS subtypes. The primary goal in treating anemia in low-risk MDS is to improve the patient's quality of life by alleviating symptoms like fatigue and weakness, while avoiding overtreatment or potential complications. Several treatment options are commonly considered: 1. Erythropoiesis-Stimulating Agents (ESAs): ESAs, such as epoetin alfa or darbepoetin alfa, are often used in low-risk MDS to stimulate red blood cell production. These agents can be effective in patients who have low erythropoietin levels and may improve anemia without the need for transfusions. However, ESAs are most beneficial in patients with a higher baseline reticulocyte count and may be less effective if there is significant dysplasia in the red blood cell lineage. 2. Lenalidomide: For patients with low-risk MDS and del(5q) chromosomal abnormalities, lenalidomide can be a particularly effective treatment. This immunomodulatory drug helps to reduce the need for blood transfusions and improves erythropoiesis. It is not suitable for all patients, but for those with this specific genetic alteration, it can significantly improve anemia and overall quality of life. 3. Iron Chelation Therapy: Chronic transfusion therapy can lead to iron overload, which can further complicate the management of anemia. In cases where patients require frequent blood transfusions, iron chelation therapy may be considered to prevent damage to organs such as the heart and liver from excess iron accumulation. 4. Supportive Care: Blood transfusions remain a cornerstone of management for many low-risk MDS patients experiencing significant anemia-related symptoms. However, transfusion dependency can be associated with complications like iron overload, so it is typically used alongside other therapies aimed at reducing the need for transfusions. 5. Hypomethylating Agents: Though primarily used in higher-risk MDS, hypomethylating agents like azacitidine can occasionally be considered for low-risk patients who are resistant to or intolerant of other treatments. These agents may help improve blood counts and reduce transfusion dependence. Ultimately, the treatment strategy for anemia in low-risk MDS is highly individualized. Factors such as the patient’s age, overall health, genetic mutations, and response to previous treatments are all considered when determining the optimal approach. Additionally, regular monitoring is essential to assess the patient's response to treatment, manage any side effects, and adjust the therapy as needed. The goal is to improve the quality of life by managing anemia while minimizing the risk of disease progression and complications.

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Could joint pain in arthritic patients be caused by iron binding to Oxalates? Phlebotomy = removal of iron/oxalate complexes, resulting in pain?

This was INCREDIBLY helpful as I await a referral for HH re: ferroportin…

I am from india and my niece dignose CDA TYPE 2. GENE SEC23B. I AM WORRIED AND CONSTANTLY CRYING. I HAVE LOTS OF QUESTION CAN SOMEONE PLS HELP ME.🙏🙏🙏🙏🙏🙏

Bravo pour cette présentation éclairante et "soulageante" tellement elle décrit bien les effets dévastateurs de la fatigue dans les SMD et les astuces pour la surmonter

I have severe pyruvate kinase deficiency, thank you for this video I need to take this to my Dr to educate them and get my treatment changed so I can have my quality of life back.

Illuminating..

This needs to be shared thank you for your time and explanations! God bless you!

Thank you from Saudi Arabia..very informative

At 6:00 it's rate of ICU admission amongst hospitalised patients, NOT rate of hospitalisations...