I had a follow up check-up with the patient. Since treatment began, her mother noted that she is less irritable which is a sign that muscle pain due to bleeding has stopped. Also, there are no signs of blood in urine or stool and no further bruising. Additionally, there are no signs of any inhibitors developing. Inhibitors are very common when clotting factors are used to treat hemophilia. The body often creates proteins that inactivate the clotting factors. About fifteen to twenty percent of all patients going through this type of treatment will develop inhibitors. While they can develop at any given time, they will mostly appear during the first year. The patient will have to have several check ups to ensure that the treatment does not become ineffective because of inhibitors. She is expected to live a long, healthy life. While she is only seven months old, I already began discussing with her mother the sort of implications and precautions that she must keep in mind when she is older. She will not be able to take part in any contact sports-football, hockey, and wrestling. Of course regular exercise will be strongly recommended in the future. However, all precautions must be done. It is imperative she wears safety equipment when necessary. A bump on the head or any other injury to the head can cause bleeding in the brain. In that case, her mother should be very wary of vomiting, changes in sleep patterns, and seizures as these are all signs of brain bleeding. Also, she must not take any pain medications that can aggravate bleeding or blood-thinning medications that can inhibit blood clotting. It is also imperative for anyone taking care of the child (babysitters, teachers, relatives, etc) to be well aware of her condition in order to take care of her in case of an emergency. Overall, her treatment is working well and with the right steps she will live a normal life.
The patient will be treated through recombinant factor concentrates. I recommend this to most of my patients because of its availability and effectiveness. Currently, there is no cure for hemophilia, but patients can still live long, healthy lives. The recombinant factor concentrates do not come from human plasma and are genetically engineered. There is no risk of bloodborne viruses because they can be made without plasma and albumin. The patient will of course be treated with VIII (8) concentrate to raise her concentrations of the low VIII (8) clotting factor. I went over how to store and use the factor concentrates. The factor concentrate can either be used during bleedings or daily to prevent bleedings. I prescribed a daily dose, as her condition is severe. It is very easy to use at home. They come as a powder and must be mixed with sterile water. The clotting factors can either be slowly dripped or injected into a vein. The concentrate must be stored in a refrigerator and should not be frozen. The patient’s mother will have to do her injections for her until she is about the age of ten, when she can start learning how to infuse herself. I am prescribing amicar to the patient because of the bleeding due to teething. Amicar is a chemical that works especially well in bleedings in the mouth or teeth because it blocks an enzyme in the saliva that prevents clots.
A blood test done was done to determine if the patient had hemophilia. The type of hemophilia and the severity can also determined. The screening test showed if the blood was clotting properly. I used a CBC (complete blood count) test on the patient. This is a common method to measure the amount hemoglobin is in the blood, the size and number of red blood cells, and the types of white blood cells and platelets. The patient had a low amount of hemoglobin and red blood cells. This is a stronger indicator of hemophilia, as excessive bleeding will produce a low amount. I conducted an APTT (Activated Partial Thromboplastin Time Test) to determine the type and severity. The test measures how long the blood takes to clot and the abilities of the clotting factors VIII (8), IX (9), XI (11), and XII (12). The patient had less than 1% VIII (8), which determined she had severe type hemophilia A, the most common form of hemophilia. We will immediately be discussing treatment.
Today, a seven-month old female baby was brought in by her mother. Although undiagnosed, many of her symptoms are similar to hemophilia. She has no family history that suggests hemophilia runs in the family. However, thirty-percent of hemophiliacs have no family history. This can happen due to a mutation that causes the blood to lack a clotting protein. It is also very rare for females to have hemophilia because hemophilia is a sex-linked gene, so females only need to receive one copy of the gene from one parent to have the disease. The patient has started teething with excessive bleeding and bruising is noted from crawling. Some blood has also been noted in urine. This is quite alarming, as it could suggest internal bleeding. Her mother has noted extreme irritability which could arise from muscle pain due to muscle bleeding. It seems very likely that it could be a severe case, and thus, treatment must start promptly if that is the case to prevent even further life-threatening damage to the tissue and organs. A blood test will be conducted tomorrow to determine if the symptoms are due to hemophilia.
http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/definition/CON-20029824
http://www.webmd.com/a-to-z-guides/understanding-hemophilia-basics http://www.cdc.gov/ncbddd/hemophilia/facts.html http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/ http://www.medicalnewstoday.com/info/hemophilia/symptoms-and-diagnosis.php |