Health and Fitness

Alpha-1 Antitrypsin Deficiency Overview Alpha-1 antitrypsin deficiency (sometimes just called “Alpha-1”) is an inherited genetic disorder that causes low levels of a protein (AAT) that protects your lungs. Alpha-1 increases your risk of developing certain diseases, including emphysema (damaged air sacs in your lungs), cirrhosis (liver scarring) and panniculitis (an uncommon skin condition). Some of these conditions can be life-threatening. Alpha-1 is sometimes referred to as “genetic COPD” or “genetic emphysema.” Alpha-1 antitrypsin deficiency affects people who have two copies of the SERPINA1 gene that makes an abnormal type of the Alpha-1 protein. Genes are the instructions for how your body should function. These gene changes can cause your body to have low levels of AAT or no AAT in your lungs, and, depending on the changes, a buildup of AAT in your liver. Any of these changes can cause health issues. People with one abnormal copy of the gene and one normal copy (called Alpha-1 car...

  Aarskog Scott Syndrome Overview Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. Additionally, some types of cognitive disorders may occasionally be present. Up to now, the FGD1 gene on the X chromosome is the only gene known to be associated with Aarskog syndrome. Symptoms Aarskog syndrome primarily affects males. Affected boys exhibit a characteristic set of facial, skeletal, and genital abnormalities. Clinical signs may vary from person to person (clinical heterogeneity), even within families. Males with Aarskog syndrome often have a rounded face with a broad forehead. Additional characteristic facial features include widely spaced eyes (ocular hypertelorism), drooping (ptosis) of the eyelids, downwardly slanting eyelid folds (palpebral fissures), a small nose with nostrils that are flared forward (anteverted nares), an underdeveloped upper jawbone (maxilliary hypoplasia), and a widow’s peak. Affec...

 Hereditary Angioedema Hereditary angioedema is a rare genetic condition that causes swelling under the skin and lining of the gut and lungs. It can happen in different parts of your body. You are born with hereditary angioedema (HAE). Although you’ll always have it, treatment helps you manage it. There have been big improvements in treatment, and researchers continue to look for new solutions. Symptoms most often initially show up in childhood and get worse during the teen years. Many people don't know HAE is causing their swelling until they're adults. Where you have it on your body, how often the bouts happen, and how strong they are different for everyone. The attacks can come and go as well as move to different spots during the same bout. The swelling typically goes away on its own but can also occur as a life-threatening event. Your throat can swell. That can cut off your airways and could be deadly. So if you know you have HAE and you feel any change like that, call 911 ...

Juvenile Myositis Overview Juvenile Myositis (JM) is found in children under the age of 18 and affects two to four children per million. The most frequent form of juvenile myositis is juvenile dermatomyositis (JDM), in which children experience marked muscle weakness and skin rash. Juvenile polymyositis can also occur in children, but it is extremely rare. There is no known cause or cure for juvenile myositis. However, there are treatments that can successfully manage the symptoms. Symptoms The following are common signs and symptoms for juvenile dermatomyositis and polymyositis: Reddish-purple rash over the eyelids or joints General tiredness Moodiness or irritability Complaints of tummy aches Trouble climbing stairs or onto a bus, standing from a seated position, or getting dressed Difficulty reaching up, like to shampoo or comb hair Trouble lifting the head Swelling or redness in the skin around the fingernails Gradual muscle weakness, most often those closest to the body such as ne...

Prolactinoma Overview Prolactinoma is a noncancerous tumor of the pituitary gland. This tumor causes the pituitary gland to make too much of a hormone called prolactin. The major effect of a prolactinoma is decreased levels of some sex hormones — namely, estrogen and testosterone. A prolactinoma isn't life-threatening. But it can cause vision difficulties, infertility and other problems. Prolactinoma is the most common type of hormone-producing tumor that can develop in the pituitary gland. A prolactinoma can usually be treated with medications to bring the prolactin level down into the standard range and shrink the tumor. In some cases, surgery to remove the tumor might be an option. Symptoms A prolactinoma might not cause any signs or symptoms. However, too much prolactin in your blood (hyperprolactinemia) can cause symptoms. So can pressure on surrounding tissues from a large tumor. Because too much prolactin can disrupt the reproductive system (hypogonadism), some of the signs ...

Tyrosinemia Overview In tyrosinemia, the body doesn't have an enzyme it needs [called fumarylacetoacetate hydrolase (FAH)] to metabolize tyrosine. Metabolism is a process in which our bodies break down substances as we use them for energy; in this case tyrosine. Tyrosine is an amino acid that is found in most proteins. When people with tyrosinemia break down protein, abnormal toxic break down products of tyrosine build up in their bodies. This causes progressive damage to the liver and kidneys, but mainly the liver. This is because the liver is normally the primary place tyrosine is metabolized. Tyrosinemia is hereditary; in order to have the disease, a child must get a mutation in the gene for tyrosinemia from each parent. In families where both parents carry a mutation, there is a one in four risk that a child will have tyrosinemia. There is now a genetic test available, so that couples at high risk of being carriers can determine their risk of having a child with tyrosinemia. Th...

Takayasu's arteritis Overview Takayasu's arteritis (tah-kah-YAH-sooz ahr-tuh-RIE-tis) is a rare type of vasculitis, a group of disorders that causes blood vessel inflammation. In Takayasu's arteritis, the inflammation damages the large artery that carries blood from your heart to the rest of your body (aorta) and its main branches. The disease can lead to narrowed or blocked arteries, or to weakened artery walls that may bulge (aneurysm) and tear. It can also lead to arm or chest pain, high blood pressure, and eventually heart failure or stroke. If you don't have symptoms, you may not need treatment. But most people with the disease need medications to control inflammation in the arteries and to prevent complications. Even with treatment, relapses are common, and your symptoms may come and go. Large arteries Takayasu's arteritis is a form of vasculitis — inflammation of the blood vessels — that damages the large arteries, especially the aorta. Chambers and valves of...