Health and Fitness

 Familial Eosinophilic Cellulitis DISEASE OVERVIEW Familial eosinophilic cellulitis is a rare skin disorder. It is characterized by raised, red, swollen, and warm areas of skin, in a flame-shaped pattern with associated pain. The exact cause of the disease is unknown. However, bites of spiders, bees, mites, fleas, or ticks (arthropods) are often associated with this skin condition. SIGNS & SYMPTOMS Familial eosinophilic cellulitis is a rare skin disorder. It sometimes occurs as an exaggerated response to bites of spiders, bees, fleas, ticks, or mites (arthropods), or it may have other causes such as surgery or drugs. The skin of the person will develop flame shaped patterns of raised, swollen, red areas that are warm to the touch. The episodes usually come on rapidly. Often, familial eosinophilic cellulitis will recur suddenly over a period of years with swelling and redness developing for no apparent reason. The attack may last up to six weeks and may continue to recur for yea...

 Familial Cold Autoinflammatory Syndrome Overview Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, chest and joints. Familial Mediterranean fever (FMF) is an inherited disorder that usually occurs in people of Mediterranean origin — including those of Jewish, Arab, Armenian, Turkish, North African, Greek or Italian ancestry. But it can affect people in any ethnic group. FMF is typically diagnosed during childhood. While there's no cure for this disorder, you may be able to relieve or even prevent signs and symptoms of FMF by following your treatment plan. Symptoms Signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in bouts called attacks that last 1-3 days. Arthritic attacks may last for weeks or months. Signs and symptoms of FMF attacks vary, but can include: *Fever *Abdominal pain *Chest pain, which can make it hard to breathe deeply *Painful,...

 Familial Adenomatous Polyposis Overview Familial adenomatous polyposis (FAP) is a rare, inherited condition caused by a defect in the adenomatous polyposis coli (APC) gene. Most people inherit the gene from a parent. But for 25 to 30 percent of people, the genetic mutation occurs spontaneously. FAP causes extra tissue (polyps) to form in your large intestine (colon) and rectum. Polyps can also occur in the upper gastrointestinal tract, especially the upper part of your small intestine (duodenum). If untreated, the polyps in the colon and rectum are likely to become cancerous when you are in your 40s. Most people with familial adenomatous polyposis eventually need surgery to remove the large intestine to prevent cancer. The polyps in the duodenum also can develop cancer, but they can usually be managed by careful monitoring and by removing polyps regularly. Some people have a milder form of the condition, called attenuated familial adenomatous polyposis (AFAP). People with AFAP usu...

  Factor XI Deficiency Summary Factor XI deficiency is a rare genetic bleeding disorder caused by reduced levels and insufficient activity of a blood protein called factor XI. Factor XI is a clotting factor. Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood solidifies like glue to plug the site of a wound to stop bleeding. Individuals with factor XI deficiency do not bleed faster or more profusely than healthy individuals, but, because their blood clots poorly, they may have difficulty stopping the flow of blood from a deep or surgical wound. This may be referred to as prolonged bleeding or a prolonged bleeding episode. The severity of symptoms in factor XI deficiency can vary from one person to another and is not clearly related to the blood factor XI level. In most patients, prolonged bleeding episodes only occur after surgery, dental procedures or trauma. Bleeding tendencies in factor XI deficiency are unpredictable and ...

 Factor X Deficiency DISEASE OVERVIEW Factor X deficiency is a rare genetic blood disorder that causes the normal clotting process (coagulation) to take longer than normal. This causes people to bleed for a longer amount of time spontaneously or after trauma/surgery. Factor X is a clotting protein (also called a clotting factor). Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood clumps together to plug the site of a wound to stop bleeding. Clotting requires a series of reactions to ultimately form a clot to plug a wound. This is referred to as the clotting (coagulation) cascade. The clotting cascade involves different substances in addition to clotting factors. Factor X, which is produced (synthesized) in the liver, eventually interacts with other clotting factors and certain cells or substances, e.g., platelets or fibrinogen, to help to form a clot. Factor X deficiency is caused by a change (variant or mutation) in the F10...

 Factor VII Deficiency Summary Factor VII deficiency is a rare genetic bleeding disorder characterized by a deficiency or reduced activity of clotting factor VII. Clotting factors are specialized proteins that are essential for the blood to clot normally. Individuals with factor VII deficiency can experience prolonged, uncontrolled bleeding episodes. The severity of factor VII deficiency can vary greatly from one person to another. Some individuals may have no symptoms (asymptomatic); others may develop mild, moderate or potentially severe, life-threatening complications as early as in infancy. Factor VII deficiency is caused by mutations of the F7 gene and is inherited as an autosomal recessive disorder. Introduction Factor VII deficiency was first described in the medical literature by Dr. Alexander, et al. in 1951 and was referred to as prothrombin conversion accelerator deficiency. The disorder has also been known as Alexander’s disease. In extremely rare instances, factor VII ...

 Fabry Disease DISEASE OVERVIEW Fabry disease is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). This disorder belongs to a group of diseases known as lysosomal storage disorders. This enzymatic deficiency is caused by alterations (mutations) in the α-galactosidase A (GLA) gene that instructs cells to make the α-galactosidase A (α-Gal A) enzyme. Lysosomes function as the primary digestive tract of cells. Enzymes within lysosomes break down or digest particular compounds and intracellular structures. α-Gal A functions to break down complex sugar-lipid molecules called glycolipids, specifically, globotriaosylceramide (GL-3 or Gb3), its deacylated form Lyso-GL-3/Gb3 and related glycolipids, by removing the terminal galactose sugar from the end of these glycolipid molecules. The enzyme deficiency causes a continuous build-up of GL-3/Gb3 and related glycolipids ...