Causes and risk factors:
The exact cause of thrombocythemia is not known, however it has been postulated that there occurs abnormal mutation of gene in the blood cells.
Clinical presentations:
Platelets are required for coagulation. Excess number of platelets will lead to formation of clots in blood vessels leading to thrombosis or embolism. Most of the time the patient remains asymptomatic and is diagnosed accidently while going through a routine blood checkups. Manifestations are seen at different levels. The patient comes up with complaints of easy fatigue, pain in lower extremities, swelling of extremities, easy bruising, and pain in chest and difficulty in breathing. Bleeding from various parts of the body occurs. It is usually mild, epistaxis or bleeding from gastrointestinal tract is seen.(This is primarily due to deficiency of specific protein in blood) The extremities are warm to touch and the patient complains of burning sensation in palms and soles. Blood clots can travel to brain and lead to stroke. Thromocythemia can lead to various complications like inflammation of liver, spleen, heart attack etc.
Diagnosis and investigations:
Diagnosis is done on the basis of the symptoms narrated by the patient and the examination carried out by the doctor. Certain sets of investigations can be advised. Routine blood test and peripheral smear are done. The peripheral blood smear >4.5lac/cumm of blood are diagnostic. Biopsies of the bone marrow along with JAK2 gene test is also suggested.
Treatment:
Asymptomatic patient usually do not need any treatment however periodic checkup and follow ups for monitoring is necessary. Medications like platelets reducing drugs, aspirin, or cytotoxic agents are advised. Stem cell transplantation for replacing the diseases bone marrow can be done.
Other modes of treatment:
The other modes of treatment can also be effective. Homoeopathy is a science which deals with individualization and considers a person in a holistic way. This science can be helpful in combating the symptoms.
Recent update:
Melbourne researchers have found out as to how an essential blood-making hormone stimulates production of platelets, this has made it easy to understand the modus operandi of thrombocythemia.
Facts and figures:
Thrombocythemia accounts for 1 to 24 per million people affected worldwide.
