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Myelofibrosis – Causes, Symptoms, and Management

Myelofibrosis – Causes, Symptoms, and Management

People with myelofibrosis have development issues in their bone marrow cells. Myelofibrosis is a kind of bone marrow cancer that severely and adversely affects the body’s blood cell production. Individuals with myelofibrosis may either develop the condition primarily or have it because of other bone marrow or blood cell-related disorders. There is no permanent cure for myelofibrosis, but specific treatment alternatives can help keep the condition at bay. Here are some details about myelofibrosis:

Myelofibrosis symptoms
Oncologists and other kinds of healthcare experts can diagnose myelofibrosis when they detect some of the following signs and symptoms in individuals:

Fatigue and shortness of breath
Myelofibrosis is a condition that gradually worsens. Hence, detecting it is not easy in its initial stages. One of the most common symptoms of this condition is anemia, a disorder in which oxygen is reduced drastically in a person’s blood. Therefore, in myelofibrosis, an individual does not have sufficient red blood cells to carry enough oxygen to their cells and tissues. This results in such people frequently being tired and out of breath, even after performing the simplest tasks like climbing stairs or skipping a few times.

Frequent bruising and bleeding
Myelofibrosis-caused anemia also results in a person not having enough platelets in their body. Platelets are critical components in an individual’s blood as they facilitate blood clotting. Low platelet count results in people suffering frequent cuts and wounds and unstoppable bleeding.

Abdominal pain
A person having myelofibrosis starts showing several digestive problems due to the gradual enlargement of the veins in their esophagus and stomach. This enlargement causes frequent vessel ruptures and internal bleeding in people with this condition. Also, myelofibrosis causes the enlargement of a person’s liver and spleen, causing sharp abdominal pain. Other abdominal issues include appetite loss, feeling full without eating much food, and rib pain.

Night sweats and fever
People with myelofibrosis include Myeloproliferative neoplasms (MPN) in patients. MPNs produce large amounts of cytokines, an enzyme that increases the frequency of inflammation in patients. This results in excessive sweating for people living with myelofibrosis. Similarly, frequent episodes of fever are also common in this condition.

Itchy skin
MPN-based cytokines also facilitate the release of histamines in people living with myelofibrosis. Histamines are the primary trigger of skin itching in patients. Skin itching then creates rashes and bruises on the epidermis of people with myelofibrosis. The result of the itching and rashes is bleeding that does not clot soon.

Bone and joint pain
Myelofibrosis causes a person’s bone marrow to become more complex and fragile. These symptoms affect the joints and connective tissue surrounding a person’s bones. Marrow hardening also causes inflammation in these parts, resulting in bone and joint pain in people suffering from myelofibrosis.

Myelofibrosis causes
There are several ways in which a person can start developing myelofibrosis symptoms. As stated above, one of the leading causes is other bone marrow or blood cell-related conditions. The leading cause of this condition is genetic mutations.
The stem cells in a person’s body make up their blood components, such as white blood cells, platelets, and red blood cells. Genetic mutations in their DNA can result in eventual myelofibrosis. In addition, the bone marrow stem cells in such a person’s body develop abnormally over time.
Now, what exactly triggers such a mutation is not precise and is the subject of extensive medical research. One of the several reasons for the mutation is erratic Janus-associated kinases (JAKs) behavior. JAKs facilitate blood cell production in a person’s bone marrow by regulating cell growth and division. If JAKs behave abnormally, the body produces too many or too few blood cells. This results in myelofibrosis.
Research studies have found that approximately 90 percent of individuals with myelofibrosis suffer a mutation in one of three genes, namely, JAK2, CALR (a gene that makes a protein to regulate the amount of calcium stored in cells), or MPL (a gene which produces a protein to control the number of blood cells made in a person’s bone marrow).
Currently, there is no way to prevent myelofibrosis, but healthcare researchers are trying to find avenues for the same.
Certain people are more vulnerable to this condition compared to others. For example, people over 50 are more likely to develop myelofibrosis compared to younger individuals. Additionally, people frequently exposed to chemicals like benzene and toluene tend to suffer from myelofibrosis eventually.
Apart from these, individuals whose occupation involves frequent radiation exposure often go on to develop myelofibrosis. And lastly, a small percentage of people with other blood cell diseases such as polycythemia vera or essential thrombocythemia, tend to suffer from myelofibrosis eventually.

Myelofibrosis remedies
Some of the ways in which severe myelofibrosis can be treated are:

Hormone therapy
This treatment alternative involves the usage of androgen, a distinctly male hormone, to boost red cell production in a person’s body. Like the other treatment alternative, the effectiveness of hormone therapy is moderate.

Blood transfusion
Frequent and regular blood transfusions can drastically increase a person’s body’s red blood cell count. While this treatment alternative can address anemia and its symptoms, such as weakness, blood clotting issues, and fatigue, carrying it out can be tiresome for people with myelofibrosis and their loved ones.

Stem cell transplantation
Allogenic stem cell treatment is arguably the only potential cure for this condition. This treatment involves healthcare experts transplanting healthy stem cells into the body of persons with myelofibrosis. This treatment is a high-risk alternative and may prove fatal if things go wrong during the procedure. However, due to its risky nature, older people with myelofibrosis are not advised to undergo stem cell transplantation.

Radiation therapy
This option involves using powerful radiation beams to kill cancerous cells and inhibit the enlargement of a person’s spleen.

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Known Signs of Hemophilia and Anemia

Bleeding disorders refer to a group of conditions like hemophilia or anemia that interfere with normal blood functions in the body. Hemophilia affects the ability of the blood cells to clot naturally, while anemia lowers hemoglobin count in the red blood cells. These conditions exhibit a unique set of symptoms that can be identified. Early diagnosis helps doctors form a viable healthcare plan. So, it pays to know and identify the following symptoms. Hemophilia and Anemia: Understanding the difference Both conditions are common bleeding disorders. However, anemia & hemophilia signs are distinctly different from each other when it comes to the disease progression. The latter is a genetic disorder that affects the red blood cell’s ability to clot and close wounds. Certain clotting factors in the blood bind with the red blood cells to prevent uncontrolled bleeding. Anemia is a condition where the body lacks sufficient healthy red blood cells in the first place. Also, a low hemoglobin count affects the red blood cell’s ability to carry oxygen to vital organs and extremities via the circulatory system. Genetic mutation triggers most known types of hemophilia, while certain nutritional deficiencies in the body trigger common forms of anemia. Symptoms of hemophilia The absence of essential clotting factors in the blood can trigger a variety of noticeable and unusual symptoms. Uncontrolled bleeding Bleeding is one of the primary symptoms of hemophilia. It can happen under the skin or in the joints. As the red blood cells are unable to bind and clot, this pool of blood can trigger swelling, pain, and tightness in the joints. This symptom is most commonly noticeable in the knees, elbows, and ankles. Blood collecting under the skin can lead to buildups under the muscle and soft tissue to cause more painful bruising. This symptom is called hematoma in medical terminology. Frequent nosebleeds When the bleeding is triggered externally, it can result in frequent nosebleeds that can be difficult to stop. Note that external environmental factors and physical injuries generally cause nosebleeds. So, any unexplained bleeding could indicate a developing condition. Bleeding caused due to cuts, bruises, and vaccinations Lack of essential clotting factor VIII can trigger bleeding from the lightest of impacts, cuts, bruises, or even after losing a tooth. Some people experience sudden bleeding after taking a vaccination. This could be the body’s reaction to producing antibodies, but the strain could be too much to bear, resulting in bleeding from the extremities. Blood in urine or stool Excess blood in the urine or stool is a clear sign of disease progression. The urine and stools appear dark red or even blackish due to the presence of red blood cells mixed with the excreta. Immediate medical assistance is advisable for visual symptoms. Bleeding in infants Complicated pregnancies can be physically taxing for both the mother and the child leading to possible symptoms of hemophilia at birth. But in some rare cases, infants may experience internal bleeding in the head. Symptoms of anemia The most common types of anemia, including iron deficiency anemia and vitamin deficiency anemia, develop due to the lack of nutrients in the body. Therefore, anemia exhibits more physically taxing symptoms as the condition worsens. Tiredness Increased fatigue and weakness for no apparent reason is one of the main indicators of nutritional deficiencies. An unexplained decrease in overall stamina with no physical exertion or any activity during the day could mean low iron in the blood. Without iron, the body cannot produce enough red blood cells. And low hemoglobin means not enough oxygen is being circulated around vital organs in the body, thus resulting in fatigue induced by low energy levels. Respiratory symptoms Experiencing shortness of breath, chest pains, and even noticing an irregular heartbeat could indicate a possible anemic condition. An iron deficiency lowers hemoglobin count, and this means not enough oxygen is being circulated by the blood. Low hemoglobin affects the breathing rate as the body struggles to extract more oxygen resulting in shortness of breath. The heart must also put in extra efforts to pump the low hemoglobin blood forcefully, thus resulting in irregular heartbeats. Doctors refer to this condition as heart palpitations. These symptoms can also induce chest pains due to the sheer stress being put on the organ. Pale skin and damaged hair Skin and hair symptoms are visible indicators of a developing anemia condition. An iron deficiency results in low red blood cell production and indirectly affects the shade of the skin. Pale skin is noticeably visible around the face, gums, lower lips, lower eyelids, and even on the nails. This symptom is more visually obvious among people who flaunt a lighter skin tone. Also, hair thinning, hair fall, and a damaged scalp is a clear sign of iron deficiency. Treatment options Note that anemia & hemophilia signs never overlap. Once the primary indicators are confirmed, doctors quickly suggest blood tests to identify the leading causes or triggers. Knowing the differences can help with prompt diagnosis even though both the conditions are bleeding disorders. It is even possible to recover from common forms of anemia within 2 to 3 months. Hemophilia is a more serious bleeding disorder that is treated by introducing the missing clotting factors. Doctors also suggest prescriptions that help stimulate the body to release more clotting factors. However, a transfusion offers more promising results for moderate to severe progression. Effective preventive measures and home remedies can help lower the risk of bleeding. These conditions cannot be completely cured. But it is possible to improve the quality of life by incorporating healthy lifestyle habits. Prescriptions and treatments only help slow down the disease progression.

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Hemophilia – Diagnosis, Symptoms, and Management

Hemophilia is a rare disorder where the blood in a person’s body does not clot effectively. It occurs due to the lack of clotting factors in the blood. Those who have hemophilia tend to bleed for a lot longer compared to someone who does not. In severe cases of hemophilia, internal bleeding can be life-threatening. It is mainly a genetic disorder, and treatments are available that focus on improving clotting and reducing symptoms. Symptoms The symptoms of hemophilia can vary from person to person. It is normal because the symptoms depend on the level of clotting factors present in the blood. If the level of clotting factors has reduced only mildly, the individual may only bleed after surgery or trauma. But, if there is a massive deficiency in the blood clotting factors, the individual can bleed easily and sometimes for no reason. Some of the common signs and symptoms of spontaneous bleeding include: Sudden and unexplained bleeding Bleeding from cuts and other injuries without it stopping Unexplained bruises that tend to last for a long time Bleeding after taking a vaccination Nosebleeds with no cause Passing blood in stool and urine Pain and swelling in the joints Unexplained irritability in small children and infants With hemophilia, minor injuries can also lead to profuse bleeding, which is why those with hemophilia should also be very careful about getting injured. A small bump on the head can also lead to bleeding into the brain. It is possible, especially with cases of severe hemophilia, one of the most severe complications of this condition. Some of the common signs of bleeding into the brain caused by hemophilia include- Painful headaches which last for an extended period Sleepiness and lack of energy to do things Constant vomiting and nausea Troubles with vision, especially double vision Seizures or convulsions Getting proper and timely healthcare is crucial in the fight against hemophilia. If you notice any of the above symptoms, it is crucial to get checked by a healthcare professional. They will help diagnose the condition and provide the proper treatment. Causes and risk factors When a person is injured, any bleeding stops after a certain period. The body starts to pool the blood cells together to create a clot. This clot forms a wall which helps to stop the bleeding. What makes these blood cells come together are proteins known as clotting factors. If these clotting factors are not present in the blood or are available in minimal quantities, the body will have a hard time creating a clot which can lead to excessive bleeding. There are different types of hemophilia based on what triggers this condition. The two types include congenital hemophilia and acquired hemophilia. Congenital hemophilia is when the condition is passed down through genetics, meaning a person is born with this condition. Congenital hemophilia is categorized based on the clotting factors that are missing. The most common kind here is hemophilia A, where the individual has level levels of clotting factor 8. The other common type, hemophilia B, happens when the individual has a low clotting factor 9. On the other hand, acquired hemophilia is when the individual develops this condition without having any family history of the disease. This type of hemophilia can be caused due to pregnancy, autoimmune conditions, cancer, and multiple sclerosis. The most significant risk factor for individuals is genetics and familial predisposition. Those who have family members who have this condition are at high risk of developing it themselves. Studies have also found that gender can play a massive role in developing this condition. Males are more likely to develop hemophilia compared to females. Diagnosis In severe cases of congenital hemophilia, healthcare professionals can diagnose the condition within the first year of life. On the other hand, mild cases of hemophilia may go undiagnosed until much later. In some cases, it may also go undiagnosed until adulthood. It is mainly because mild cases do not typically exhibit many signs and symptoms. Individuals typically learn about their hemophilia diagnosis when they undergo a surgical procedure. Tests that are present for hemophilia are mainly used to reveal the clotting factor deficiency. It helps to understand which clotting factor is present in low levels. It also helps to determine if the case is mild or severe. Those with a family history of hemophilia can opt for a genetic test. This help to find if the individual carries particular genes responsible for hemophilia. It can help the individual make well-thought decisions about getting pregnant. It is also possible to determine if the fetus has been affected by hemophilia during pregnancy. But, the testing does pose certain risks, which is why the doctors and the individuals should discuss to understand the benefits and risks of this test and make a decision. Treatments Hemophilia is caused due to the deficiency of clotting factors in the blood. The way to treat this is to replace the clotting factors. For severe cases of hemophilia, replacement therapy is given to treat a bleeding episode. The clotting factors are added to the blood via a tube connected to a vein. It can also be carried out regularly at home as it can be a preventive measure for bleeding episodes. Some individuals can also opt for continuous replacement therapy. Clotting factors can be made from the blood donated by other individuals. In some cases, clotting factor is also produced in the laboratory. Such clotting factors are not made from human blood. Other hemophilia treatments include desmopressin, clot-preserving treatments, fibrin sealants, physical therapy, and even basic first aid (for small injuries). In addition, many ongoing clinical trials are looking for more effective treatments to manage this condition.

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