There is no single area of medicine more confusing to a physician than bleeding and clotting problems. For a blood clot to form no fewer than 20 separate proteins in the blood must react sequentially. Prevention of bleeding is critical for the maintenance of life. But with 20 different proteins involved in the process, both hereditary and acquired defects in any one of these protein products can interfere with normal production of a blood clot. Most people have heard of hemophilia which was described in the first century AD. With hemophilia A the patient lacks factor VIII in the clotting sequence and severe fatal bleeding is a common expectation in the absence of treatment. With modern treatment most bleeding disorders including Hemophilia A can be effectively treated preventing both early mortality and disability.

     The opposite end of the problem are those patients that clot too easily. Just as there are 20 proteins that lead to a blood clot forming, there are at least that many involved in preventing blood clots from forming when they are not wanted.   And there are special proteins for dissolving those blood clots that form inside of  the body and have to be cleaned up.  One of these is called TPA (tissue plasminogen activator) which is the famous "clot buster" used to treat patients who have had a heart attack.

     In the past several years, new members of the bleeding and clotting family have been added as research  continues.  There is a disease called thrombotic thrombocytopenic purpura (TTP) that used to be fatal in 80% of the cases. To make it easier to understand medical jargon the word "thrombotic" means that blood clots form where they are not wanted. Thrombocyto- is the term doctors use denote little particles in the blood called plateletes that participate in making blood clots.  "-penic" means that the platelets in blood have been used up. Purpura means that the person has large bruises that form with very little pressure on the skin. People with this condition form lots of little bood clots in their arteries where blood clots do not belong.  These blood clots stop blood  from flowing to vital parts of the body.  These patients come to the doctor with headaches, visual disturbances, large bruises that seem to occur for no reason, kidney failure and eventually strokes. The condition usually evolves over a week or two and as mentioned above is fatal in 80% of untreated cases.

      Several years ago it was accidentally found that if patients with TTP were given normal blood plasma they seemed to get better. One smart observing doctor decided to give even more plasma and saw that several patients recovered completely. Thus was born a effective treatment for this disease. It appears that patients with thrombotic thrombocytopenic purpura (TTP) lack a protein called ADAMTS-13 in their blood.   This protein (ADAMTS-13) prevents uncontrolled clotting inside the blood vessels where clots do not belong. When this absent protein is provided from an external source such as a blood donor, the person with thrombotic thrombocytopenia purpura stops clotting their own blood abnormally and gets well. This is a very rare disease but provides a very gratifying thrill for the doctor who can recognize the condition and then save a life.

    There is a very rare occurrence of a hereditary condition in which the patient simply was not provided with the genetic information on how to make this clot preventing protein (ADAMST13). These patients will have recurrent episodes in which their platelets are used up, their kidneys maybe damaged and clots can form inside the blood vessels. Fortunately, the hereditary condition can be treated by provision of the absent protein using transfusions of fresh frozen plasma on a periodic basis. While allergic reactions to the transfusions are sometimes a problem, eventually plasma donors can be identified to which the patient does not become allergic and long term treatment can be provided.

     For individuals who have this hereditary form of clotting problem, avoidance of unusually stressful situations is important. Crises in this condition tend to come on with what would otherwise be minor irritations. Upper respiratory tract infections such as colds can cause a crisis. Unusual fatigue or physical exertion also can cause problems. Thus observation of "mother's rules" becomes an important part of life for individuals with hereditary bleeding or clotting disorders.

     The complexities of bleeding and clotting disorders involve at least a 100 or more different hereditary or acquired conditions. The common denominator of each of these is that the person is either abnormally bleeding or abnormally clotting their blood. Recognition of this abnormality begins at the primary care level in your local clinics. As basic blood tests begin to show up abnormalities, referral on to specialists in this area is arranged so the plan for long term care can be designed. Once the treatment/plan is in place, return to the local community with treatment directed by the primary healthcare providers can be arranged with infrequent visits to the specialist. On Saturday, November 16th, a discussion of bleeding and clotting problems will be held at the Medicine Rock Café in Gettysburg at 10:00 am.