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Factor X Deficiency

Factor X deficiency (also known as Stuart-Prower deficiency) is a rare bleeding disorder caused by the absence or low levels of a specific clotting protein in the blood, called “factor X.” Factor X deficiency affects males and females equally. Symptoms can be mild, moderate or severe depending on the level of circulating factor X in the bloodstream. Common symptoms include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. Women with Factor X deficiency may also experience heavy menstrual bleeding and may have an increased risk for first trimester miscarriages. Acquired (non-inherited) Factor X deficiency is the most common form of the disorder. Acquired Factor X deficiency can be caused by liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and certain types of cancer.

Von Willebrand Disease

Von Willebrand disease (VWD) is considered the most common inherited bleeding disorder – estimated to affect 1% of the population. Like hemophilia, it is caused by the deficiency of a specific blood clotting protein. This protein, called von Willebrand factor (VWF), helps platelets stick together to form a clot at the site of an injury. Low levels of VWF in the blood results in delayed or prolonged bleeding time. Depending on the severity of the disease, prolonged bleeding can occur spontaneously or following trauma or surgery. The lower the level of VWF factor in the bloodstream, the more at risk a person is for bleeding. Unlike hemophilia, VWD affects males and females equally. VWD is usually mild and often goes undiagnosed, but an estimated 3% of von Willebrand patients are considered severe. Some women who experience heavy menstrual bleeding may have VWD as the underlying cause.

Hemophilia

Hemophilia is rare, x-linked bleeding disorder caused by the deficiency of a specific blood clotting protein (factor VIII or IX). This results in delayed or prolonged bleeding time. Depending on the severity of the disease, prolonged bleeding can occur spontaneously or following trauma or surgery. People with hemophilia A have low levels of factor VIII, while people with hemophilia B have low levels of factor IX. The lower the level of clotting factor in the bloodstream, the more at risk a person is for bleeding. Head and organ injuries pose the greatest danger, while repeated joint and muscle bleeds can lead to long-term joint and tissue damage.

Crohn’s disease

Crohn’s disease is a condition of chronic inflammation potentially involving any location of the gastrointestinal tract, but it frequently affects the end of the small bowel and the beginning of the large bowel. In Crohn’s disease, all layers of the intestine may be involved and there can be normal healthy bowel between patches of diseased bowel. The Center for Disease Control and Prevention (CDC) reports that symptoms include persistent diarrhea (loose, watery, or frequent bowel movements), cramping, abdominal pain, fever, and, at times, rectal bleeding. Loss of appetite and weight loss also may occur.

However, the disease is not always limited to the gastrointestinal tract; it can also affect the joints, eyes, skin, and liver. Fatigue is another common complaint. The exact cause of Crohn’s disease is unknown. People with Crohn’s disease have ongoing (chronic) inflammation of the gastrointestinal tract (GI tract). Crohn’s disease may involve the small intestine, the large intestine, the rectum, or the mouth. The inflammation causes the intestinal wall to become thick. There are different types of Crohn’s disease. The type depends on what part of your body is affected.

Chronic inflammatory demyelinating polyneuropathy (CIDP)

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic disorder of the peripheral nerves characterized by gradually increasing loss of sensation and weakness associated with loss of reflexes. It is caused by damage to the myelin sheath (the fatty covering that wraps around and protects nerve fibers) of the peripheral nerves. Symptoms often include tingling or numbness (beginning in the toes and fingers), weakness of the arms and legs, loss of deep tendon reflexes, fatigue, and abnormal sensations. CIDP is closely related to Guillain-Barre syndrome and is considered the chronic counterpart of that acute disease.

Guillain–barré Syndrome (GBS)

Guillain- Barré syndrome (GBS) is a rare disorder in which the body’s immune system attacks the nerves. Initial symptoms usually include weakness and tingling in the hands and feet. These sensations can quickly spread, leading to paralysis of the whole body. The exact cause of GBS is unknown, but two-thirds of patients report symptoms of an infection in the six weeks preceding the onset of symptoms. These include respiratory or gastrointestinal infection or Zika virus. 

Huntington’s disease (HD)

Huntington’s disease (HD), also known as Huntington’s chorea, is an inherited disorder that results in death of brain cells. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unsteady gait often follow. As the disease advances, uncoordinated, jerky body movements become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia.

The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age but can start at any age. The disease may develop earlier in life in each successive generation. About eight percent of cases start before the age of 20 years and typically present with symptoms more similar to Parkinson’s disease. People with HD often underestimate the degree of their symptoms.

Immune thrombocytopenia (ITP)

Immune thrombocytopenia (ITP) is a rare autoimmune condition in which the body’s immune system destroys healthy platelets, a component of the blood involved in clotting. Symptoms can include easy or excessive bruising, petechiae (tiny red dots on the skin caused by broken or leaky blood vessels), bleeding from the gums or nose, blood in urine or stools, unusually heavy menstrual flow, and fatigue. Treatment depends on the severity of bleeding and the platelet count. In mild cases, treatment may not be needed.

Multiple sclerosis (MS)

Multiple sclerosis (MS) is a condition in which the insulating cover along the nerve cells is damaged. This damage disrupts the transmission of nerve signals, causing a variety of symptoms, including double vision, blindness in one eye, muscle weakness, and trouble with sensation or coordination. MS takes several forms, including relapsing MS (symptoms occur sporadically) and progressive MS (symptoms build up over time). In the relapsing MS, symptoms may disappear completely between attacks, although some permanent nerve problems often remain. While the cause of MS is unclear, the underlying problem is related to damage to the insulating layer of nerves (myelin sheath), possibly caused by the immune system.

There is still no cure for MS, but there are treatments for initial attacks, medications and therapies to improve symptoms, and recently developed drugs to slow the worsening of the disease. These new drugs have been shown to reduce the number and severity of relapses and to delay the long-term progression of MS. These treatments may include injectable steroids, oral steroids, and plasma exchange as a secondary option in certain types of MS.

Myasthenia gravis (MG)

Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eye and eyelid, facial expressions, chewing, talking, and swallowing. Weakness tends to increase during periods of activity and improve after periods of rest. The condition results from a defect in the transmission of nerve impulses to muscles because the immune system blocks or destroys acetylcholine receptors, a critical link between the nerve and muscle.

The exact reason this occurs is not known. Some cases have been linked to tumors in the thymus gland. Researchers believe that variations in certain genes may increase a person’s risk to develop MG, but other factors likely also play a role. There is no cure for MG at this time, but treatment can significantly improve muscle weakness. Some cases may go into remission temporarily, and muscle weakness may disappear so that medications can be discontinued. People can develop MG at any age. For unknown reasons, it is most commonly diagnosed in women younger than age 40 and men older than age 60.

20% of CSI Pharmacy patients have a form of Myasthenia Gravis.