Myelofibrosis (blood cancer): is there a cure? See the treatment

What is myelofibrosis?

Myelofibrosis is a rare type of blood cancer , caused by changes in bone marrow cells, causing its contents to be gradually replaced by fibrous (scar) tissue.

As the marrow is responsible for the production of blood cells – platelets, white and red blood cells -, the quantity and functionality of these cells is affected, impacting on the whole health of the organism.

The disease presents the pre-fibrotic phase, in which the altered cells (or mutants) begin to multiply successively in the bone marrow, but there is still no healing of the inside of the bone (which still has a spongy aspect).

With mutant cell reproduction, there is a fibrogenic stimulus, that is, through the production of collagen and reticulin fibers (which are parts of the tissue), the hardening of the bone marrow is favored, characterizing the second phase, called fibrotic.

As a result of the change in the bone marrow, consequently, the production of blood cells decays and the organism tends to adapt so as not to suffer the symptoms so much. Thus, other organs or structures begin to perform cell production, in order not to compromise bodily functioning.

Therefore, in addition to bone marrow fibrosis, another feature of myelofibrosis is the production of blood cells outside the bone marrow (a condition called extramedullary hematopoiesis), more specifically in the liver and spleen.

As there is an overload of the organs, the tendency is for them to increase in size, accompanied by pain and discomfort, especially in the spleen (which presents an increase in size in 97% to 100% of cases).

A healthy spleen is approximately 150g, while a patient with myelofibrosis may have a spleen weighing up to 10kg.

According to Dr. Erika Midori, of the Abrale Medical Committee (Brazilian Association of Lymphoma and Leukemia), with the change in cell production, anemia can develop due to fibrosis, the destruction of red blood cells (hemolysis) or due to enlarged liver (splenomegaly).

The disease is part of the group of myeloproliferative changes, which includes, in addition to primary myelofibrosis, diseases such as polycythemia vera, essential thrombocythemia, chronic myeloid leukemia, chronic neutrophilic leukemia and systemic mastocytosis.

The disease can be classified as primary or secondary. While primary myelofibrosis (MLP) has no identifiable causes, the secondary type is due to other conditions, such as essential thrombocythemia and polycythemia vera.

Myelofibrosis has a mutation in the JAK2 gene in about 50% to 60% of patients, but it has no hereditary behavior, so it is not seen in people of the same family.

Most diagnoses are in patients over 50 and cases in children and young people are rare. Follow-up is important at any age or type of disease, as soon as there are risks of progression to acute myeloid leukemia.

The evolution of the disease is, in general, quite slow, and there are patients who live with myelofibrosis for years and never present or perceive any signs or changes in the body.

But when symptoms appear, they tend to be quite debilitating and compromise the patient’s life. The conditions need constant monitoring and the prognosis depends on a number of factors, but varies between 15 years for cases considered mild, and 2 years for severe cases, according to Abrale.

In ICD-10 , myelofibrosis is listed under the code C94.5 .

What is bone marrow?

Early in fetal life, blood cells are actually produced by the liver and spleen, not by bone marrow. At approximately the 2nd month of fetal life, the bones already begin to form. In a short time, the bone marrow takes on the role of making cells.

Almost like a functional memory, when adults have some spinal weakness, the liver can resume the condition of blood cell production.

The bones are not compact structures, because the inside is occupied by the bone marrow, a liquid tissue, with a gelatinous aspect, popularly called marrow, which can be red (produces cells) or yellow (in general, does not produce cells).

This compound is present in all the bones of the body, but throughout life, there is a tendency for it to concentrate on some larger structures, such as the tibia, femur and pelvic bones.

The bone marrow has a fundamental role for cell development, as soon as it has stem cells, responsible for the production of white blood cells (leukocytes), red blood cells (red blood cells) and platelets. That is, it is there, inside the bones, that blood cells are produced in an appropriate and balanced way.

When we are born, most bones are occupied entirely by the red bone marrow, which is capable of producing blood cells.

But, as we get older, a large part of this marrow loses its function and becomes yellow and fatty, being called yellow marrow.

All tissues that manage to manufacture blood cells originate from the primitive reticular cell, also called the progenitor cell or even the mother cell, a very specific cell type. As the name suggests, it is what gives rise to the other cells of the blood tissue.

Learn a little more about the main types of blood cells:

Red Cells

Also called red blood cells or erythrocytes, red blood cells are circular cells (that is, round cells), formed by hemoglobin and globulin.

The main function of the cell is the transport of oxygen and carbon dioxide in the blood, nourishing the tissues and organs of the body.

In general, the amount of red blood cells is between 4 and 5 million cells per mm³ and each one lives in our organism for about 120 days, until it is renewed.

Leukocytes

Also called white blood cells, this type of cell can be divided into the subtypes neutrophils, basophils, eosinophils , lymphocytes and monocytes, which have different sizes, shapes and nuclear structures.

The function of white blood cells is to defend the body, fighting foreign agents that can cause disease.

With a slightly larger size and lower blood concentrations than red blood cells, there are approximately 5,000 to 10,000 leukocytes per mm³.

Platelets

In fact, platelets are not cells, but cellular fragments, which act on blood clotting. Therefore, they act by stopping the blood when a cut or injury occurs.

Platelets are also called thrombocytes and the amount in the body can vary between 150 and 350 thousand per mm³ of blood. On average, the life of each cell part is 10 days in the blood and, after that period, the spleen filters and destroys them to be renewed.

Types

Myelofibrosis can be divided into primary, when it occurs alone and without a known cause, and secondary, when fibrosis occurs as a consequence of other bone marrow disorders.

Primary myelofibrosis (MFP)

When the change in the stem cell occurs without another disease causing the condition, it is called primary myelofibrosis (MFP).

MFP can also be called idiopathic myelofibrosis (as there is no knowledge about the triggering agents) or agnogenic myeloid metaplasia.

The data indicate that most diagnoses are of the primary type, in which patients have a high chance of developing anemia and thrombocytopenia (reduction of platelets in the blood).

In 10% of cases, acute leukemia occurs in a progressive and resistant way, quickly worsening the patient’s condition.

Secondary myelofibrosis

The clinical picture is quite similar to that of primary myelofibrosis. Studies presented at the National Congress of Internal Medicine, in 2015, indicate that there are no clinical differences between the two types, except the origin of the change.

Anemia is one of the most common symptoms in the secondary type, and it usually occurs with normocytic (red blood cells with normal size in the blood) and normochromic (adequate color) aspects. That is, the production is correct, but the red blood cell concentrations are low.

There are several causes of secondary myelofibrosis, which may be a response to tumor cells ( breast , lung or prostate cancer, generally), infection of mycobacteria, fungi, HIV and myeloproliferative diseases.

Causes

Primary myelofibrosis is considered an idiopathic disease, that is, the triggering agent of the disease is not known and it is also not completely clear how the alteration occurs.

About 50% of patients have a mutation in the JAK2 gene (which is associated with the correct production of blood cells), however, this and other perceived mutations are not exclusive to myelofibrosis.

The change in stem cells causes an increase in the production of platelets and cytokines (molecules that regulate cellular activities), causing them to accumulate in the bone marrow and stimulate the formation of scar tissue (fibrous).

In secondary myelofibrosis, the causes are the primary diseases that cause bone marrow alteration, following the same bone marrow healing process and blood cell alteration.

Among the most associated are:

Polycythemia vera

The disease is characterized by cellular disorders that cause an increase in the production of red blood cells in the blood, which can cause thrombosis , which is the main attention during treatment.

Essential thrombocythaemia

In this context, changes in stem cells promote an increase in the production of platelets, which are responsible for blood clotting. Therefore, it is necessary that the patient is monitored and evaluated for changes in blood consistency and its coagulative action.

Hodgkin’s lymphoma

The lymphatic system is a set of tissues and organs that produce immune cells and are responsible for their distribution. Therefore, it is a system that participates in the body’s immunization.

Hodgkin’s disease or lymphoma is a cancer that begins in the lymph nodes of the lymphatic system, when one of these lymphocytes undergoes a malignant change and begins to grow and spread.

Non-Hodgkin’s lymphoma

There are more than 20 types of non-Hodgkin’s lymphoma, which are characterized as malignant neoplasms originating in the ganglia.

That is, a normal cell begins to grow out of control or disorderly, spreading through lymph nodes, especially in the neck, armpits and groin area, but also in the spleen, liver and bone marrow.

The disease usually causes the lymph nodes to enlarge to the point that they are felt or visually perceived by the patient or other people (they resemble nodules in the skin).

Leukemia

Chronic myeloid leukemia (CML) is a cancer of the bone marrow, which occurs most predominantly in adults in their 50s. CML has a genetic abnormality in white blood cells (called the Philadelphia chromosome).

Briefly, it was found that patients with chronic myeloid leukemia have 2 chromosomes joined together.

In hair cell leukemia, the body produces excess lymphocytes, which end up altering the production of other blood cells. The disease can also be called tricholeukemia.

Multiple myeloma

There is a type of white cell called a plasma cell, which acts on the production of antibodies.

In a patient with multiple myeloma, plasmocytes give rise to abnormal and non-functional antibodies (they are called protein or M component).

You can check for the presence of altered cells in the blood, urine, or both fluids.

Non-malignant changes

  • HIV infection;
  • Hyperparathyroidism;
  • Renal osteodystrophy (changes in bones caused by kidney dysfunction);
  • Systemic lupus erythematosus;
  • Tuberculosis;
  • Vitamin D deficiency;
  • Gray platelet syndrome.

Exposure to substances

  • Benzene (solvent used in chemical and industrial products);
  • Thorium dioxide (formerly used in imaging studies, today it can still be used in industry);
  • X or gamma radiation (imaging).

Patients who have undergone radiotherapy treatment, although properly controlled and monitored, are more prone to myelofibrosis.

Risk factors

Despite not knowing exactly the triggering agent of myofibrosis, some characteristics are common to patients and, therefore, comprise risk factors:

  • Age : the condition is more frequent in adults between 50 and 70 years old, being little reported in children;
  • Exposure to chemical substances : people who have been exposed to industrial solvents, such as toluene and benzene are more prone to bone marrow changes;
  • Other disorders of blood cells : although the most frequent cases are primary myelofibrosis, patients who have a previous alteration, such as polycythemia vera, are more susceptible;
  • Exposure to radiation : radiation, such as from atomic bombs or radiotherapy treatments, can have high risks. It is estimated that regions affected by atomic bombs have an 18% increase in myelofibrosis.

Symptoms

Myelofibrosis has no specific symptoms or signs, and the condition is usually detected when routine examinations are performed and the doctor observes the changes.

On average, 25% of cases are diagnosed without the patient having any symptoms.

Often, in symptomatic cases, patients still take time to perceive them as signs of something more serious, as the manifestations are quite nonspecific, such as reduced appetite, tiredness , fatigue and pain in the bones.

Symptoms due to changes in blood cells

In myelofibrosis, red blood cell production can be elevated or reduced. When red blood cells are very concentrated in the blood, dizziness, headaches and malaise can occur.

But if there is a drop in the circulation of red blood cells, anemia develops and symptoms can include:

  • Shortness of breathe;
  • Irritability;
  • Weakness and tiredness;
  • Headaches;
  • Pallor;
  • Dizziness;
  • Loss of appetite;
  • Irregular heartbeat;
  • Poor blood circulation;
  • Bruises and marks on the skin for no apparent reason.

With changes in white blood cells, constant infections, decreased immunity and increased sensitivity to external agents can occur (favoring allergies, for example).

Myelofibrosis can also affect the production of platelets, usually by reducing their amount and favoring bleeding, bleeding and difficulty in healing.

Symptoms due to changes in the body

The splenomegaly is increased spleen condition, which is possibly observed in all patients. Some experts consider it a necessary condition for diagnosis, but some studies indicate that it occurs between 97% and 100% of cases.

The spleen can increase considerably in size, occupying the entire left abdominal half or even exceeding the midline of the belly, pushing other organs.

Already hepatomegaly , which is the enlargement of the liver, occurs in about 70% of cases and liver function may also be compromised.

Signs may include:

  • Fever, especially at specific times and routinely, usually around dusk (between 5pm and 6pm);
  • Weight loss;
  • Intense and persistent itching around the body;
  • Excessive sweating at night (night sweat);
  • Pain in the bones;
  • Discomfort in the abdomen and difficulty in bending down (due to the enlarged spleen and liver);
  • Bleeding from the nose;
  • Stomach discomfort or loss of appetite.

How is the diagnosis made?

The most qualified professionals to diagnose and treat myelofibrosis are the oncologist and the hematologist .

Between 20% and 30% of patients are diagnosed in the pre-fibrotic phase, and the rest are diagnosed in the fibrotic phase. In both cases the diagnosis is often made almost accidentally, as the patient performs some routine examination and the doctor notices the changes.

To diagnose the condition, the professional will assess the presence of anemia, infections in the spleen ( splenic infarction ) and enlargement of the organ (splenomegaly).

In addition to lifting the patient’s condition, observing if there are any symptoms present, the doctor can feel the abdomen to check the enlarged spleen or liver.

The presence of pallor, fatigue and pale mucous membranes should be evaluated to raise suspicions of anemia (which should be confirmed with blood tests).

It is also possible to identify, through physical evaluation, the reduction of muscle mass and consequent loss of strength, in addition to fatigue and muscle atrophy (cachexia).

However, the diagnosis is only effectively confirmed by ordering tests, especially the spinal biopsy.

Following the guidelines for the diagnosis of the disease, it is necessary for the patient to present 3 major criteria and at least 1 minor criterion. This is because, as myelofibrosis does not show specific signs, it is necessary to rule out other possibilities and arrive at the diagnosis by exclusion.

Larger criteria

The first criterion is the presence of megakaryocytic or atypical proliferation – that is, marrow cells with an irregular shape, usually with a nucleus disproportionate to the rest of the body (cytoplasm, dense cytoplasm or irregular nucleolus).

In this case, bone marrow fibrosis is noticed. If there is no fibrosis, it is necessary to assess whether bone marrow cells have increased concentration, that is, whether the patient is in the pre-fibrotic phase.

The second criterion understands that the condition cannot be fitted into another myeloid neoplasm, otherwise the diagnosis is secondary myofibrosis.

Finally, the third criterion is the presence of altered genetic markers (such as JACK2). If there are no mutations, it is necessary to investigate again the possibility of being reactive fibrosis, that is, secondary to inflammatory processes or other neoplastic diseases.

Briefly, the patient needs to:

  • Present fibrosis or pre-fibrosis;
  • Not having other myeloproliferative diseases;
  • Have a change in any clonal marker.

Minor criteria

The patient must have at least 1 of the following conditions:

  • Leukoerythroblastosis (increased amount of blood cells in the marrow);
  • Increased DHL (when there is an injury or change in the body, there is an increase in DHL, or lactic dehydrogenase enzyme);
  • Anemia;
  • Palpable splenomegaly (enlarged spleen).

Exams

To confirm clinical suspicions, tests should be performed to rule out other conditions. They can be:

Blood count

One of the first and most frequent tests is usually the blood count . Through the collection of blood, it is possible to perform the cell count and check for changes or imbalances in the body.

The blood count is made with a simple blood collection and the fluid sample is sent for analysis.

A significant number of patients with myelofibrosis have a reduction in hemoglobin concentration (which characterizes anemia, with a tendency to worsen over time) and red blood cells present changes in shape (instead of round, they assume a drop shape ).

There is also an increase in white blood cells (characterizing infections), in addition to variations in the amount of platelets.

The blood count can also point out the size of blood cells, elevation of uric acid and reduction in albumin rates, for example.

By itself, the test has no basis for determining the presence of myofibrosis. Therefore, the blood count should be part of the diagnosis. If there are changes, other tests need to be performed.

Blood smear

The test is usually ordered along with the blood count and can be called blood distension or blood extension.

Basically, the technique consists of spreading a blood sample on a slide (glass platelets), forming a thin layer. Then, the surface is analyzed to assess the quality of the cells and the presence of abnormalities.

The test can provide information about the morphology (shape) of the cells, estimate the number of leukocytes and platelets, in addition to investigating hematological problems and disorders found in the blood.

Aspirate and bone marrow biopsy

Also called a myelogram, bone marrow aspirate and bone marrow biopsy are able to assess the quantity and quality of blood cell production in the bone marrow.

It is the main test for the confirmation of myelofibrosis and through it the presence of fibroses or scars on the internal part of the bones is verified.

While the myelogram takes a sample of the liquid part of the medulla, the biopsy removes a small cylindrical portion of the iliac bone (pelvic bone, close to the waist).

The bone sample must contain a piece of the bone marrow in order to be sent for analysis.

Some researchers point out that, in cases where fibrosis is already formed, aspiration may not be possible (the tissue that used to be liquid is now no longer aspirable). In this case, the biopsy is able to supply both tests.

The exams are performed under anesthesia and are usually quick to perform.

Karyotyping

With a blood sample or bone marrow sample, microscopic observation of the tissue is performed to assess the size, shape and number of chromosomes.

In addition to participating in the diagnosis, the test can assist in the treatment routing, checking if there is anemia and what type of it, for example.

Analysis of genetic mutations in blood cells

Through a blood sample or bone marrow, possible genetic mutations in blood cells are examined. There are 3 most frequent changes that, together, are present in approximately 90% of patients:

JAK2 mutation

Between 50% and 60% of patients with myelofibrosis have a mutation in the JAK2 gene. It is responsible for the ordering of cell growth and proliferation, that is, JAK2 controls the quantity and quality of new cells.

MPL mutation

Between 5% and 10% of patients have a mutation in a gene called MPL, which interferes with JAK2 and affects their communication, causing cellular changes as well.

CALR mutation

If we consider myelofibrosis and essential thrombocythemia, approximately 23% of the patients present an alteration called Calreticulina or just CALR.

Research on this genetic marker is still recent, and it was only discovered in 2013, but it is believed that mutation of this gene is more frequent in young patients.

Imaging exams

Imaging exams are used mainly to assess the condition of the liver and spleen, assessing their size. X-rays, ultrasounds and magnetic resonance imaging can be used.

Is there a cure?

Bone marrow transplantation is the only treatment capable of curing the patient. However, the procedure is not always recommended.

In most cases, the patient is monitored and medicated, helping to control symptoms.

What is the treatment?

After diagnosis, possible treatments are through medications and bone marrow transplantation. Regardless of the therapeutic referral, medical follow-up to assess the evolution of the condition is always necessary.

According to Dr. Erika Midori, from the Abrale Medical Committee, in addition to giving an indication of the prognosis, the prognostic scoring parameters can assist in the treatment.

Adopted internationally, the Dynamic International Prognostic Scoring System (DIPSS) or the latest DIPSS-Plus, take into account some specific factors and assign the patient to the low, medium or high risk category.

The DIPSS-plus considers 8 factors of worsening of the condition, which are:

  • Age over 65 : 1 point
  • Leukocytes above 25,000 : 1 point
  • Hemoglobin above 10 g / dL : 2 points
  • Circulating blasts greater than or equal 1% : 1 point
  • Constitutional symptoms present : 1 point
  • Platelets below 100,000 : 1 point
  • Need for red blood cell transfusion : 1 point
  • Unfavorable karyotype (complex karyotype or one or more abnormalities) : 1 point

The result is counted, generating a score and, according to it, it is possible to establish the referral of the patient:

  • DIPSS 0 or DIPSS PLUS 0 : low risk;
  • DIPSS 1 to 2 or DIPSS PLUS 1 : intermediate risk 1;
  • DIPSS 3 to 4 or DIPSS PLUS 2 : intermediate risk 2;
  • DIPSS 5 to 6 or DIPSS PLUS 3 : high risk.

Patients with intermediate or high risk who are able to undergo bone marrow transplantation should prioritize the option. Generally, it is age and health factors in general that can interfere, increasing the risks of transplantation.

In cases where the risks to life are very high or there is any other impediment, making transplantation not an option, treatment must be palliative, in order to control the symptoms and improve the quality of life.

In patients who have debilitating constitutional symptoms or major splenomegaly, the JAK1 and JAK2 inhibitor, Jakavi (Ruxolitinib) would be the choice.

Patients who are at low risk or intermediate risk 1 are referred according to the symptoms present.                   

If the condition is asymptomatic, follow-up is initiated and when symptoms appear, drug or therapeutic intervention occurs.

For symptomatic conditions, treatment consists of alleviating symptoms, treating complications or secondary conditions (such as anemia or enlarged spleen) and improving the patient’s quality of life.

In anemia, treatment is usually started with oral medications, but if there is no response from the body or the doctor deems it necessary, blood transfusion may be recommended.

To treat changes in the spleen, medications can be used to reduce the size of the organ, such as alpha interferon, chemotherapy drugs or, when the first options have no effect, radiotherapy or surgery may be used to remove the organ in whole or in part.

On the other hand, palliative treatments include a series of options that must be evaluated and raised considering the routine and activities of each person.

Pain relief, improved well-being, psychological and social support, as well as the integration of the family into treatment are some of the actions promoted by palliative therapies.

Blood transfusion

The procedure reduces malaise, tiredness and shortness of breath quickly, being a very safe process. The patient may receive blood with part of the elements (usually only red blood cells) or with all of them, depending on the condition.

In general, the transfusion lasts between 2 and 4 hours and more than 1 session over the weeks may be recommended.

Most people respond well to the transfusion and have no symptoms. Even so, it is possible that the patient presents with fever , chills or hives (redness of the skin).

Radiotherapy

Radiation can be applied to destroy cells and reduce the size of the liver or spleen. The patient may experience nausea, vomiting, skin changes and intestinal changes. But, in general, the procedure is safe and with controllable side effects.

Each session lasts between 10 and 20 minutes and is performed for at least 2 weeks. The radiation reaches a greater proportion of the altered cells of the organ.

As it is not possible to isolate the other tissues or to concentrate the action specifically of the altered cells, the healthy part of the organism can also be affected.

But they have the ability to regenerate in a short time, and the intervals between each session allow damage to healthy cells to be minimized.

Chemotherapy

Chemotherapy consists of the use of drugs capable of controlling the progression or delaying the progression of myelofibrosis. Oral, injectable or topical chemotherapy can be used (which are applied to the skin or mucous membranes).

Although drug application does not cause pain, there are usually side effects, such as discomfort, malaise and burning at the application sites.

Treatment can cause several side effects or be well tolerated by the body, depending on the patient’s condition. Basically, the drug works by destroying diseased cells and should normally be accompanied by radiotherapy.

But since it is not possible to centralize the action, healthy cells can be affected as well.

Splenectomy

The procedure consists of surgery to remove the spleen or part of it. In general, the process is performed through 4 small incisions in the abdomen (laparoscopy), making the surgery less invasive and faster to recover.

In cases where it is necessary to remove the entire organ, the surgery must be done in an open manner, that is, an incision sufficient for the removal of the spleen is made in the middle of the abdomen.

The procedure presents few risks, but, like any surgery, there are risks of infection and complications due to poor healing.

Bone marrow transplant

Until then, bone marrow transplantation is the only way to achieve a patient’s cure. However, as it is an invasive and risky procedure, several factors must be considered and weighed before choosing, mainly because the disease affects mostly older patients.

The transplant basically consists of replacing the patient’s bone marrow with a healthy one.

In general, the procedure is quick, with a duration of approximately 2 hours, in which the patient is injected with healthy bone marrow.

However, it is necessary to prepare for the transplant, which consists of receiving high doses of chemotherapy for approximately 10 days prior to the procedure.

The drugs will destroy the bone marrow and the process can be quite aggressive, bringing different side effects. Therefore, older people with poor health can have high health impacts.

Infection rates after transplantation are relatively high, but not always serious if they are identified and treated early.

After 100 days of the intervention, the patient is still considered immunosuppressed (that is, with a weakened immune system), but the risks of infection and complications tend to decrease after that period.

Complications can occur after transplantation, especially if there is no complete compatibility between donor and patient. In this case, the whole organism can be affected, increasing the risks to life, through injuries or changes in the skin, liver, intestine and lungs, for example.

Medicines

Drug treatment will depend on the patient’s condition. The arrival of substances capable of acting directly on the JAK2 gene mutation is quite recent.

It was only in 2015 that ANVISA approved the drug Jakavi (ruxolitinib) , the first for the specific treatment of myelofibrosis, which acts through the inhibition of tyrosine kinase enzymes JAK1 and JAK2, which are enzymes responsible for regulating the production of blood cells and for immunological action.

Both patients with primary or secondary myelofibrosis can benefit from the action of Jakavi.

Studies on the action of Jakavi indicate the initial dose of a maximum of two 20mg tablets a day and point out the drug’s effectiveness in reducing the spleen through 2 studies.

In a first survey, a group that received ruxolitinib and another control group that received a placebo were followed up. 42% of patients who used the drug had a spleen reduction, compared with just 1% of those who received a placebo.

In the second study, 0% of patients treated with the best available drug combinations had the expected spleen reduction, while of those who used Jakavi, 29% achieved the expected decrease.

Side effects of the drug can include headaches, bruises and urinary tract infections, but the results are generally quite positive.

Despite being the main recommendation for the treatment of myelofibrosis, the drug is not yet available through the Unified Health System (SUS), requiring patients to enter a legal process in order to achieve the best treatment results, free of charge.

On the other hand, as determined by the National Health Agency (ANS), Jakavi is part of a list of oral drugs for the treatment of cancers that must be covered by health plans.

There are also other products that are used in myelofibrosis and that are part of the SUS free distribution program. Are they:

  • Erythropoietin : indicated to treat secondary anemia (triggered by some condition or disease);
  • Prednisone : corticosteroids are generally used together with other medications;
  • Danazol : the drug is a weak steroid hormone that helps in inhibiting the symptoms of myelofibrosis;
  • Hydroxyurea : indicated for the treatment of resistant chronic myelocytic leukemia and melanoma, acting and inhibiting certain types of tumors.

Attention!

NEVER self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained in this website is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.

Living together

In general, the condition, when it starts to manifest symptoms, tends to be quite debilitating and aggressive. Therefore, medical monitoring is always essential to prevent the disease from worsening, which can progress to acute myeloid leukemia.

But, in addition to periodic consultations with the specialist, there are ways to better live with the disease and promote better living conditions.

Dr. Erika Midori, from the Abrale Medical Committee, points out that there are some cases in which treatment consists of monitoring the condition. And so, there is no specific guidance on changing the routine. But always seek a healthier life, with good nutrition, physical activities and without addictions.

In symptomatic cases, treatment may be difficult to accept by the patient, with resistance. In these cases, the family, medical support and the quality of social ties is essential.

Also according to Dr. Erika Midori, the most important thing is to seek information from the professionals involved in the treatment, as this is how the patient can obtain more quality of life.

Ease the symptoms

Sometimes it is not possible to solve the symptoms of malaise or pain, for example, but it is possible to adopt measures that reduce discomfort and provide a better quality of life.

Caring for your diet can make a big difference in your routine, so prefer a light and balanced diet, respecting your body’s signals. Some measures are:

  • Reduce the amount of strong, sodium and industrialized spices, especially when there are symptoms such as nausea and nausea;
  • Consume fruits and vegetables, as they help to supply nutrients to the body and can improve immunity, reducing the signs of anemia;
  • Try to keep your meal times regular and, whenever possible, do them in quiet environments or in the company of friends and family;
  • Take care of food hygiene, as the body is more sensitive to infections and harmful agents;
  • Drink plenty of fluids to maintain proper body functions.

Walking or physical activity can reduce pain and improve circulation. Thus, oxygenation is also favored, reducing dizziness and tiredness, for example.

Alternative therapies can bring good results, such as reducing pain, promoting physical and mental relaxation, stimulating blood flow and promoting well-being in general. For this, activities such as aromatherapy, meditation, relaxation and naturotherapy can be sought.

Take care of emotional health

Pain, discomfort and other symptoms can often be present, causing the routine to be impaired. When giving up the usual activities, the patient may have emotional and mental health affected, reflecting on the accentuation of symptoms.

Both patients who are eligible for bone marrow transplants, and patients who follow medication or palliative treatment, apprehension, anxiety and emotional difficulties can be quite delicate factors.

Initiatives that aim to preserve mental conditions, either through clinical therapy or through activities that promote more pleasure to the patient, are always options that must be implemented.

know your rights

It is worth mentioning that the Unified Health System provides most of the drugs used to treat the disease free of charge and, in addition, it is possible to take legal action in order to obtain other resources not provided by SUS.

These possibilities should always be considered and discussed with the doctor, who will provide the information and clarifications. For this, it is necessary to count on an efficient and dedicated clinical support, which works looking for the greatest safety and comfort during the treatment.

So, it is necessary that the patient feels comfortable and well supported in the clinical aspect, reducing the feeling of insecurity or apprehension.

Share your story

The support of friends and family is essential. Due to the limitation that myelofibrosis can cause, the patient usually tends to gradually move away from social life and its pleasurable activities.

In addition to the people close to them needing to understand the situation and seeking to maintain close ties with the person being treated, it is necessary that they know how to act on the possible needs of the disease.

Dialogue and family support are always essential at this stage, but, in addition, there are support groups and centers that seek to insert and maintain the patients’ social circle, reducing cases of isolation and, consequently, emotional worsening.

Sharing the routine can help the patient and others who are in similar conditions.

Prognosis

Patients with primary myelofibrosis have an average survival between 3.5 years and 5.5 years after diagnosis. It is estimated that after 10 years, less than 10% of patients are alive.

Death is usually caused by infections, hemorrhages, heart failure and the worsening of myelofibrosis for acute leukemia – about 20% of patients develop the condition within 10 years.

The prognosis depends on a number of factors, but the professional will estimate it through the DIPPS and DIPPS PLUS parameters, according to the score calculated under the 8 criteria, which take into account factors such as age, leukocyte count, hemoglobin, concentration of platelets in the blood and other aspects. At the end, the life expectancy according to the DIPSS is:

  • DIPP / DIPP PLUS 0 (low risk) : 15.4 years;
  • DIPP / DIPP PLUS 1 (intermediate 1) : 6.5 years;
  • DIPP / DIPP PLUS 2 to 3 (intermediate 2) : 2.9 years;
  • DIPP 4 to 6 (high risk) : 1.3 years.

Patients undergoing bone marrow transplantation, when therapy is successful, are cured. When there is complete compatibility between donor and transplant, the recovery is good, the chances of infections are low and the patient’s quality of life is gradually restored.

Complications

The worsening of myelofibrosis can result in complications to the patient’s health. Between them:

Portal hypertension

As a result of the enlargement of the spleen, there is an increase in blood flow and pressure within a vein called the portal (responsible for the transport of blood between the spleen and the liver).

High pressure can force smaller veins in the stomach and esophagus, causing rupture and bleeding. About 7% of patients have portal hypertension.

Spleen infarction

In addition to discomfort and pain in the spleen, due to the increase in size, blood obstruction can occur, which prevents blood from reaching the organ.

With blood flow, nutrients and oxygen are reduced or blocked, causing tissue necrosis (the entire organ or part of it), which is called a splenic or splenic infarction.

Extramedullary hematopoiesis

In addition to the spleen and liver, other regions can begin to produce blood cells, such as the lungs and organs of the digestive system, causing changes in the body, such as possible bleeding or tumors.

Bleeding and bleeding

In general, patients with myelofibrosis have a gradual reduction in platelets, impairing the action of blood clotting. The result is that when there is an injury, cuts or even minor bruises, bleeding and bleeding that are difficult to stop can occur.

Infections

Patients with myelofibrosis are more susceptible to various infections, even if they do not have a marked reduction in white blood cells.

Drop

Myelofibrosis causes an increase in the production of uric acid in the body. The substance results in the accumulation of crystals in the joints, generating inflammation and severe pain.

Acute myeloid leukemia (AML)

It is the most serious complication of myelofibrosis, since cancer has an aggressive and very rapid evolution. Between 20% and 30% of patients develop (AML).

How to prevent?

There are no preventive measures that can be taken for myelofibrosis. Although some cases are triggered by external agents (such as radiation or chemicals), it is estimated that there is a genetic predisposition for mutations.

Health care, then, should be geared to the proper functioning of the organism, carrying out treatments and monitoring when necessary, in addition to maintaining routine exams, always evaluated by a health professional.

Myelofibrosis in dogs

It is not only humans who are susceptible to myelofibrosis, because although rare, puppies can also develop bone marrow changes.

There is no breed, size or sex that predisposes to the disease, but it usually occurs most often in basenjis, beagles and West Highland white terriers.

In animals, myelofibrosis is usually a secondary condition, caused by other diseases, such as congenital hemolytic anemia, myeloid metaplasia, ehrlichiosis (caused by ticks), septicemia (generalized infection) or blood poisoning.

Treatments for phenobarbital and dilantin-based seizures, those for liver disease, with phenylbutazone and colchicine, in addition to radiation can trigger myelofibrosis.

Your pet may start to show tiredness, weakness, pale mucous membranes and rapid heartbeat.

Changes in diet (amount of feed consumed) and hours of sleep also indicate changes in myelofibrosis.

In general, the veterinarian will use corticosteroid medications along with hormones, such as erythropoietin to do the treatment. But the referral will depend on the stage of the disease and the condition of the puppy.


It is estimated that, in Brazil, there are 13 million people with some rare disease and there is still no effective data on myelofibrosis, with the disease possibly being confused with other conditions due to the scope of the symptoms.

Conducting regular medical consultations and taking care of your health, in general, can assist in the early detection of organ dysfunctions, assisting in the treatment referral and improving the patient’s quality of life.

Paying attention to the body’s signs and investigating any health changes can be crucial for a quick diagnosis and more effective treatment.

In Hickey solution you can find out more about diseases, health and well-being.

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