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Autoimmune Diseases

Autoimmune Diseases Overview Autoimmune diseases are health conditions that happen when your immune system attacks your body instead of defending it. Healthcare providers sometimes call them autoimmune disorders. Usually, your immune system is like your body’s built-in security system. It automatically detects substances that shouldn’t be in your body (like viruses, bacteria or toxins) and sends out white blood cells to eliminate them before they can damage your body or make your sick. If you have an autoimmune disease, your immune system is more active than it should be. Because there aren’t invaders to attack, your immune system turns on your body and damages healthy tissue. Autoimmune diseases are chronic conditions. This means if you have an autoimmune disease, you’ll probably have to manage it and the symptoms it causes for the rest of your life. Types of autoimmune diseases There are more than 100 different autoimmune diseases. They can affect almost any tissue or organ in ...

Aromatase Excess Syndrome (AES)

Description Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. Affected females rarely show signs and symptoms of the condition, but they may have increased breast growth (macromastia), irregular menstrual periods, and short stature. The ability to have children (fertility) is usually normal in both males and females with aromatase excess syndrome. Causes Rearrangements of genetic material involving the CYP19A1 gene cause aromatase excess syndrome. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones ca...

African Iron Overload

Disease Overview Summary African iron overload is a rare disorder characterized abnormally elevated levels of iron in the body. The name originates from the initial description of this entity in sub-Saharan Africa, in communities where affected individuals drink a traditional, homemade beer that contains a high amount of iron. Symptoms may vary from case to case but can include the accumulation of fibrous tissue (fibrosis) in the liver and, eventually, scarring of the liver (cirrhosis). The exact cause of African iron overload is unknown, but researchers believe that a combination of dietary and genetic factors result in the development of the disorder. Introduction Researches originally believed that the popular, iron-rich beer caused cases of African iron overload. However, many individuals that drank the beer did not develop the disorder and some individuals that did not drink the beer did develop it. This led researchers to speculate that a mutation of a gene or genes involved in t...

Congenital Afibrinogenemia

Disease Overview Summary Congenital afibrinogenemia is a rare bleeding disorder characterized by absence of fibrinogen (also known as coagulation factor I) in the blood, a protein that is essential in the blood clotting (coagulation) process. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Bleeding can occur anywhere in the body, including the skin, nose, oral cavity, gastrointestinal tract, liver, genital and urinary tract, joints, muscles and central nervous system. Bleeding can also happen in the skull (intracranial hemorrhage) and is a leading cause of death and disability in individuals with congenital afibrinogenemia. Women are at increased risk for vaginal bleeding and increased blood loss during menstruation and tend to have recurrent miscarriages. Other manifestations of the disease include risk of spontaneous spleen rupture, formation of painful bone cysts, poor wound healing and increased risk of ...

Palate syndrome

Palate syndrome Overview A "palate syndrome" typically refers to congenital conditions involving an opening or split in the roof of the mouth (cleft palate). These can occur in isolation or as part of a wider genetic disorder, like DiGeorge syndrome (22q11.2 deletion), and often require coordinated surgical and speech therapy. Symptoms Palate syndrome symptoms most commonly present as feeding difficulties (milk or food coming out of the nose), speech abnormalities (nasally sounding voice or hypernasality), frequent ear infections, and dental misalignments. These traits are heavily associated with congenital conditions like cleft palate or syndromes involving a high-arched palate.Because the term "palate syndrome" can refer to several distinct medical conditions (such as cleft palate, submucous cleft palate, or syndromes that impact the structure of the mouth), symptoms are categorized below by the primary functional area the...

Hyperkalemic Periodic Paralysis

Hyperkalemic Periodic Paralysis What Is Hyperkalemic Periodic Paralysis? Hyperkalemic periodic paralysis (hyperKPP or HYPP) causes sudden episodes (attacks) of muscle weakness or temporary paralysis. It happens when potassium levels in your blood get too high. Hyperkalemia means your blood has more potassium than normal. Potassium is an important mineral that helps muscles contract and work properly. During an attack, the extra potassium can get in the way of muscle control. Attacks for this rare genetic disorder often last 15 minutes to an hour. But sometimes, they may be longer. The condition can start in childhood, adolescence or early adulthood. Many people notice their first episode before age 20. Treatment may not stop every episode, but it can make attacks happen less often. Symptoms HyperKPP mostly affects the muscles in your arms and legs. The symptoms come and go, which means they shouldn’t last forever. Common symptoms include: Muscle weakness or paralysis Muscle stiffness P...