Dr. Paul Sackstein, 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.

Kidney stones can be smooth or jagged and are yellow to brown in color. They are mostly comprised of the minerals calcium, oxalate, and phosphorus. Examining the stones to see what they are made of can show what caused the stone to be formed in the first place. For example, a stone made of mostly calcium, which is the most common type, can happen any time the urine becomes too concentrated due to dehydration or a blockage in the kidney. A uric acid stone forms when acid levels in the urine get too high, usually due to excessive consumption of animal protein such as meat and fish. A struvite stone is a sign of certain infections, and a cystine stone can be due to a genetic disorder that raises the risk of kidney stones.

The most common symptom of kidney stones is pain, either in the back or lower abdomen, or severe pain when urinating. There may also be blood in the urine. Treatment for kidney stones depends on how large the stone is. Very small stones can pass out of the body on their own, and they do not require treatment other than drinking adequate water and taking pain killers. Larger stones need to be broken apart and removed. The main treatment options are:

• Shock wave lithotripsy, which uses sound wave vibrations to break apart the stone
• Percutaneous nephrolithotomy, or the use of a very tiny tool (like a wire inserted through the back) to break apart and remove the stone
• Ureteroscopy, a thin tube inserted through the urethra and bladder to the stone, where tiny tools can grasp the stone and remove

People who have had one kidney stone are at risk of developing another. To reduce this risk, patients are given instructions specific to the type of stone they developed. Generally the instructions will include drinking more water to dilute the urine, but it may also involve lowering sodium intake or eating less meat.

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.