Dr. David P. Masiello, MD

Most people with hemophilia have a family history of the disorder, though about 30% do not. The most common forms are hemophilia A (classic hemophilia) and hemophilia B (Christmas disease). Hemophilia A and B share certain characteristics, but different genes are involved. Acquired hemophilia is very rare and has been linked to autoimmune conditions, cancer, and multiple sclerosis.

Hemophilia may be diagnosed using a blood test. If there is family history of the disorder, testing may be done prenatally. Treatment involves regular intravenous replacement of clotting factors, which may be produced in a laboratory (recombinant) or come from blood donors. For people with milder forms of the disease, a hormone called desmopressin may stimulate the body to produce clotting factors. Other drug therapies include medications that help slow the breakdown of blood clots and medications that are applied directly to the wound to promote clotting.

Living with hemophilia can be challenging, but simple things may help prevent excessive bleeding. For example, choosing activities like walking or swimming over contact sports can prevent injuries and strengthen muscles while protecting the joints. Chances for bleeding may also be reduced by making sure that children wear helmets and elbow pads during activities like bicycle rides.

Joint problems include bursitis and arthritis. Bursitis is the inflammation of a fluid-filled sac cushion on the outside of a joint, causing symptoms including pain and swelling. Arthritis is the inflammation and damage of a joint due to wear and tear or disease. There are several treatments for arthritis, but if the damage progresses far enough, joint replacement may be necessary. In joint replacement, a metal or plastic implant is surgically placed within the joint to make movement easier.

Bone problems include scoliosis, fractures, and osteoporosis. Scoliosis is a curvature of the spine, making the normally straight spine look like a 'C' or 'S.' It is treated with braces or surgery. Osteoporosis is a disease that causes bones to weaken and break easily. It's most common in women, especially older women. Fully half of all women over 65 have osteoporosis. Fractures are any break in the bone. They can be a simple crack or a severe and complicated shatter. Osteoporosis causes fractures in people who have it, but other causes are trauma (such as a fall) or overuse.

Tendon and ligament problems most often result from injury or overuse. Two good examples are ligament tears and tendonitis. The most common ligament tear is the ACL tear in the knee. This ligament supports and stabilizes the knee and is most often torn during sports activities. Tendonitis happens when a tendon, which connects muscles and bones together, becomes irritated and inflamed. This happens most often in older patients who push their bodies too far, leading to pain and swelling. Treatment for both tendon and ligament problems usually includes rest, ice, and supporting the area to let it heal.

Pain and numbness problems can be caused by overuse, disease, an injury, or a compressed nerve. Lower back pain and carpal tunnel syndrome are two of the most common conditions patients encounter. Lower back pain may be caused by sore muscles that have been overworked, or an injury to the disks separating the vertebrae in the spine. Lower back pain usually goes away on its own within a few days, but it may require medical treatment depending on the cause. Carpal tunnel syndrome occurs when the nerve at the base of the palm becomes trapped or pinched. Symptoms include tingling, pain, numbness, or weakness in the hand. Treatment involves rest and sometimes steroid injections.

Because the musculoskeletal system involves so much of the body, problems here can be incredibly varied in their type and severity. Some musculoskeletal problems will go away on their own or only require rest, while others may require medication, physical therapy, or even surgery.

If a doctor suspects a patient has thrombocytosis, a complete blood count (CBC) or platelet count test helps determine the concentration of platelets in a person's blood at a given time. Thrombocytosis can be diagnosed by hematologists using advanced tests on platelet samples. Flow cytometry tests detect abnormalities by evaluating the characteristics of a platelet sample using targeted lasers and lights.

Patients with high platelet counts are frequently prescribed a daily dose of over-the-counter medication aspirin to thin the blood. Platelet-lowering medications, such as hydroxyurea and Intron A, may reduce the likelihood of blood clot formation. Excess platelets may also be removed from the blood by a procedure called plateletpheresis or platelet reduction apheresis, where blood is drawn, circulated into a centrifuge that separates the blood components, and returned to the body with some platelets extracted. Plateletpheresis is a rare procedure reserved for patients who have severe clotting.

Patients can also modify their lifestyle to better manage their disorder and minimize complications. Patients with thrombocytosis are advised to drink plenty of water, exercise regularly, and to avoid smoking. Many people with thrombocytosis live healthy and fulfilling lives with proper treatment and precautions.