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Familial Mediterranean Fever

Familial Mediterranean Fever – General Information

The Familial Mediterranean Fever is a disease that usually appears in individuals who have a Mediterranean origin and can include: Sephardic Jews, Arabs, Armenians and Turks, but it can also affect any ethnic group. It is also considered a rare disease which is characterized by painful inflammation of the patient’s abdomen, joints or lungs. The Familial Mediterranean Fever disease is, in most cases, discovered in childhood. Because there is no available cure for the disease, the doctor can recommend medicines or certain therapies that can help relieve the signs and symptoms, or use these treatments to prevent any attacks of the disease. The main cause of the disease is the defection of a gene in the chromosome 16. It is not known for certain if this mutation leads to the appearance of the disease, but the individuals who have the defect do not secret the protein that inhibits the inflammatory response in some parts of the body. The Familial Mediterranean Fever disease is also considered an autosomal recessive trait, because the patient has to inherit the affected gene from another patient in order to develop it. If the disease is left untreated or if it is treated incorrectly, it can cause sever complications such as amyloidosis, which affects the kidneys, causing the nephroting syndrome, in which the filtering systems of the kidneys are affected causing failure of the each kidney. Other complications that should be considered are the chronic arthritis or infertility, in female patients, because it can affect the reproductive organs.

Familial Mediterranean Fever – Symptoms

The signs and symptoms of the Familial Mediterranean Fever appear during the patient’s childhood. In most cases patients who are diagnosed with the disease have an age between 15 and 20 years. The main symptom appears as an attack, which usually comes with almost no warning. The attack can last from two to three days, progressing in intensity in the first 24 hours. The most encountered signs and symptoms can include a sudden fever, between 100 to 104 F, abdominal pain, chest pain, achy, swollen joints constipation followed by diarrhea and rash on the legs, particularly below the knees. There are severe less encountered signs and symptoms of the Familial Mediterranean Fever and can include muscle aches, inflammation of the reproductive organs, a condition called pelvic inflammatory disease, in female patients, a swollen, tender scrotum and inflammation of the blood vessels, also known as vasculitis. In most cases the Familial Mediterranean Fever attacks appear spontaneously, but there are cases in which the patient reported that an intense exercise caused the attack. The period between the attacks is usually normal, with no signs and symptoms at all, and can last for more that one week, in some cases, even months. If the patient experiences symptoms such as diarrhea, nausea or vomiting after the treatment trial with colchicines, he or she has to visit the doctor immediately. There is no way to prevent the disease without knowing that you have it, but if the patient has been diagnosed with the disease, the best way to prevent the attacks is to take colchicine medicines.

Familial Mediterranean Fever – Treatment

There is no specific way to diagnose the disease, but the doctor can take into consideration a few facts that can lead to an exact diagnosis. Signs of Familial Mediterranean Fever help the doctor; they can include unusual fever, abrupt fever and a sensation of pain in the abdominal, chest and joints areas. The abdominal pain can be similar to the one caused by the inflammation of the appendix, but it disappears over time. The diagnosis of the disease also depends on the patient’s ethnicity, because most affected patients include Sephardic Jews, Armenians, Turks, North Africans, Arabs, Greeks and Italians. There are cases in which Ashkenazi Jews in the United States had been diagnosed with the disease, and that is why the ethnicity is not a criteria in diagnosis. In some cases, the doctor can also demand blood tests, to see if there are any levels of certain markers that usually indicate an inflammation in a part of the patient’s body.

The main blood cells that are examined are the white ones, which help the body to fight infections. Genetic tests can also be done to see if the patient’s genes have mutations that can be similar to those of the Familial Mediterranean Fever. This procedure is efficient when the patient experiences atypical signs and symptoms. In most cases, the doctors can prescribe colchicine to treat Familial Mediterranean Fever. Although there is an effective treatment for this type of disease, it can only ease the patient’s symptoms, as the disorder itself can not be cured. The colchicine medicine, which is usually administered in the form of pills, acts by reducing the inflammation in the patient’s body. The doctor usually recommends one dose of the drug each day, but there are cases in which the patient requires more than two doses a day. The medicine is helpful in patients who know when they are about to have an attack, and prevent it by taking the drug. It is important to know when to take colchicines, because if it is used immediately after the first symptom, it becomes inefficient. However, if it is taken in the opportune moment, the medicine can relive the signs and symptoms of the Familial Mediterranean Fever. It also decreases the risk of developing complication such as amyloidosis. In most cases, the drug leads to the appearance of several side effects such as pain, tingling or numbness in the hands or feet, muscle weakness, particularly in elderly patients who consume a lot of alcohol and whose kidneys are not functioning properly. Another way to treat Familial Mediterranean Fever is the dialysis or kidney transplantation. These procedures were applied before the colchicine medicine had been discovered, but there are places in which the doctors still apply such methods. The dialysis procedure consists in the removal of the wastes from the blood using special equipment. The kidney transplant consists in the replacement of the affected kidney. These two operations can also be performed if the patient can not tolerate the colchicine medicine or if the disorder appears to be resistant to it.




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