nih polycythemia patient case report

What is the definition of polycythemia in the newborn?

Polycythemia in the newborn is defined as a central venous hematocrit over 65% or a hemoglobin value above 22 g/dL. Polycythemia vera is a sub-type of polycythemia.

What is polycythemia and how is it managed?

Polycythemia can affect every organ in the body, and the symptoms are primarily related to impaired oxygen delivery and hyperviscosity of blood. The condition is primarily managed by the hematologist, but the management of complications requires an interprofessional team.

What is the role of phlebotomy in the treatment of polycythemia vera?

Phlebotomy was established as the backbone of therapy, primarily based on the trial conducted by the Polycythemia Vera Study Group (PVSG). The study found that, compared to the use of chlorambucil or radioactive phosphorous, treatment with phlebotomy alone was associated with longer median survival. [7]

What tests are used to diagnose secondary polycythemia?

An ultrasound and Doppler study of the abdomen would help identify a secondary cause. In cases of suspected secondary polycythemia, the utility of additional investigations such as a chest radiograph, lung function tests, sleep studies, and an echocardiograph are to be considered as appropriate. Treatment / Management

What are the 2 major criteria for a diagnosis of polycythemia vera?

Diagnosis is made using criteria developed by the Polycythemia Vera Study Group; major criteria include elevated red blood cell mass, normal oxygen saturation, and palpable splenomegaly. Untreated patients may survive for six to 18 months, whereas adequate treatment may extend life expectancy to more than 10 years.

What is the life expectancy of someone with polycythemia vera?

Recent studies estimate the average life expectancy after diagnosis with polycythemia vera to be about 20 years. The average age of death is about 77. The most common cause of death is complications from blood clots (about 33%). Advancing cancer is the second most common cause (15%).

What is the most common cause of polycythemia?

Apparent polycythaemia is often caused by being overweight, smoking, drinking too much alcohol or taking certain medicines – including diuretics (tablets for high blood pressure that make you pee more). Apparent polycythaemia may improve if the underlying cause is identified and managed.

Can you live a normal life with polycythemia vera?

Polycythemia vera (PV) is a rare blood cancer. While no cure exists for PV, it can be controlled through treatment, and you can live with the disease for many years.

Can you live 40 years with polycythemia vera?

Median survival in patients with polycythemia vera (PV), which is 1.5-3 years in the absence of therapy, has been extended to approximately 14 years overall, and to 24 years for patients younger than 60 years of age, because of new therapeutic tools.

How long can you live with JAK2 mutation?

How long can you live with the JAK2 mutation? In PV patients with a median follow-up of 12 years, overall survival was 83 percent at ten years and 37 percent at 20 years. Between a median follow-up of 8 years and 105 ETs, overall survival was 83 percent at ten years and 57 percent at 20 years.

What is the most common symptom in the early stage of polycythemia?

Many people with polycythemia vera don't have noticeable signs or symptoms. Some people might develop vague symptoms such as headache, dizziness, fatigue and blurred vision. More-specific symptoms of polycythemia vera include: Itchiness, especially after a warm bath or shower.

What is the best treatment for polycythemia?

The most common treatment for polychythemia vera is having frequent blood withdrawals, using a needle in a vein (phlebotomy). It's the same procedure used for donating blood. This decreases your blood volume and reduces the number of excess blood cells.

What is the latest treatment for polycythemia vera?

Today, the U.S. Food and Drug Administration approved Besremi (ropeginterferon alfa-2b-njft) injection to treat adults with polycythemia vera, a blood disease that causes the overproduction of red blood cells. The excess cells thicken the blood, slowing blood flow and increasing the chance of blood clots.

How serious is JAK2 mutation?

Mutations in JAK2 are also linked to other blood disorders. Most frequently, the mutations are linked to a condition called polycythemia vera (PV). In PV, the JAK2 mutation causes uncontrolled blood cell production. Around 10 to 15 percent of people with PV will go on to develop MF.

How fast does polycythemia progress?

One study shows that anywhere from 2% to 14% of the time, polycythemia vera changes into AML within 10 years. In this disease, stem cells in your bone marrow turn into unhealthy blood cells, including white blood cells called myeloblasts. These cells grow out of control, crowding out healthy blood cells.

Can I fly with polycythemia vera?

As you may know, certain MPNs, like PV and ET, are already associated with a potential for blood clots. This is why it's important for people with MPNs to be mindful when flying. To keep your circulation moving, stretch your legs, wiggle your toes and get up every so often and walk around the cabin.

Is polycythemia vera a terminal illness?

Without treatment, polycythemia vera can be life-threatening. But proper medical care can help ease signs, symptoms and complications of this disease.

How quickly does polycythemia vera progress?

One study shows that anywhere from 2% to 14% of the time, polycythemia vera changes into AML within 10 years. In this disease, stem cells in your bone marrow turn into unhealthy blood cells, including white blood cells called myeloblasts. These cells grow out of control, crowding out healthy blood cells.

What is the most common symptom in the early stage of polycythemia?

Characteristics of early stages For example, early symptoms may include: fatigue. weakness. dizziness.

Can polycythemia vera go into remission?

There's no cure for polycythemia vera. Treatment focuses on reducing your risk of complications. These treatments may also ease your symptoms.

What is polycythemia vera?

Polycythemia vera is a sub-type of polycythemia. Often referred to colloquially as simply “ polycythemia,” it is an acquired, Philadelphia-chromosome negative,[2], myeloproliferative disorder. This condition is associated with overproduction of all 3 cell lines but with a notable prominence of red blood cells.

What is the primary defect in polycythemia vera?

The primary defect in nearly 95% of cases of polycythemia vera is an acquired mutation in exon 14 of the tyrosine kinase JAK2(V617F). Mutations have also been described in exon 12 of JAK2. These mutations result in a loss of the auto-inhibitory pseudo-kinase domain of JAK2, resulting in its constitutive activation. This constitutive activation results in both hypersensitivity to EPO and EPO-independent erythroid colony formation.

What is the difference between polycythemia and polycythemia vera?

Polycythemia, also called erythrocytosis, refers to an increase in red blood cell mass, noted on laboratory evaluation as increased hemoglobin and hematocrit levels. Polycythemia vera is a subtype of polycythemia and is associated with the overproduction of all 3 cell lines. The clinical significance of erythrocytosis, due to any cause, is related to the associated risk of thrombotic events due to hyperviscosity of blood. Additionally, in cases of polycythemia vera, there is potential for progression to leukemia. This activity reviews the evaluation, treatment, and potential complications of polycythemia vera and highlights the role of the interprofessional team in identifying and treating this condition.

What is the clinical significance of erythrocytosis?

The clinical significance of erythrocytosis, due to any cause, lies in the associated risk of thrombotic events due to hyperviscosity of blood. Additionally, the potential for progression to leukemia in cases of polycythemia vera also warrants attention.

What is the RBC of a male?

The standard RBC mass does not usually exceed 36 ml/kg in males and 32 ml/kg in females. The reference ranges for normal hemoglobin levels and hematocrits vary depending on altitude, from ethnicity to ethnicity and country to country.[1]  However, as a frame of reference, the hemoglobin, and hematocrit of a healthy adult male are 16 g/dL plus or minus 2 gm/dl and 47% plus or minus 6%, respectively. The hemoglobin and hematocrit of a menstruating adult female are usually 13 g/dL plus or minus 2 gm/dl and 40% plus or minus 6%, respectively.

What is NCBI bookshelf?

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Does cirrhosis cause increased RBC?

Liver cirrhosis and inflammatory liver disease have been associated with secondary polycythemia and increased RBC proliferation. [3]

Abstract and Figures

We report a case of 73 year old woman with known risk factor (hypertension) for cerebrovascular disease who developed a TIA like symptom & vertigo with spontaneous clinical improvement. CT showed left cerebral infarct. Haematological test revealed PRV. Clinical improvement was associated with a reduction in haematocrit levels.

References (14)

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