Dr. Joseph H. Schneider, 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.

Hydrocephalus is most often treated with an implanted device called a shunt. A shunt is a long, thin tube that is used to drain excess fluid. One end is placed within the brain. The tube runs under the skin, along the neck behind the ear, and to another part of the body where the fluid can be reabsorbed. Most often this is the abdomen, but the chest or other areas can also be used. Shunts have a valve that allows doctors to monitor and control the pressure within the brain. Insertion of a shunt is a surgical procedure that takes one to two hours. Incisions are made in the head and the abdomen, and the shunt is threaded into place before the openings are stitched closed.

In cases where hydrocephalus is caused by a blockage, a procedure called endoscopic third ventriculostomy, or ETV, may be performed. During this procedure, a surgeon makes a dime-sized hole in the skull and uses a thin tube with a camera on the end (called an endoscope) to see inside the brain. The surgeon punctures a hole in the floor of the third ventricle, a fluid-filled space within the brain. The hole provides an opening for cerebrospinal fluid to flow around the blockage, normalizing pressure. The entire procedure usually takes less than an hour and patients can often go home the following day. ETV can provide a permanent and safe alternative to a shunt, but it is only useful for patients whose hydrocephalus is caused by a blockage.