Pharma Pathologies
Lipodystrophy *Myalept
Lipodystrophy is a clinical entity characterized by an abnormal distribution of adipose tissue, including lipoatrophy. It is typically, but not always, associated with insulin resistance and other metabolic alterations. Lipodystrophies have a genetic origin or are acquired in response pathogenic insults, which have not been well-characterized. In generalized lipodystrophy, adipose tissue is nearly absent in patients, whereas in partial lipodystrophy, lipoatrophy affects only specific anatomical sites.
HOFH* Juxtapid
Homozygous familial hypercholesteraemia (HoFH) is a form of FH (familial hypercholesterolaemia). This is a condition which is passed down through families in the genes and raises your blood cholesterol to very high levels. HoFH is the more severe form and it raises your cholesterol even higher.
Epidermolysis Bullosa* Filsuvez
Epidermolysis bullosa is a rare condition that causes fragile, blistering skin. The blisters may appear in response to minor injury, even from heat, rubbing or scratching. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or stomach. Epidermolysis bullosa is inherited, and it usually shows up in infants or young children. Some people don’t develop symptoms until they’re teens or young adults.
Acromegaly* Mycapssa
Acromegaly is a disorder that occurs when your body makes too much growth hormone (GH). Produced mainly in the pituitary gland, GH controls the physical growth of the body. In adults, too much of this hormone causes bones, cartilage, body organs, and other tissues to increase in size. Common changes in appearance include enlarged or swollen nose, ears, hands, and feet.
MPNs* Pegasys
Interferon alfa is approved in the treatment of hairy cell leukemia, hepatitis B and C infections, malignant melanoma, AIDS-related Kaposi sarcoma, follicular lymphoma and condyloma acuminata, and has additional off-label use for many hematologic and solid cancers including MPNs
MSMD* Imukin/Actimmune
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, in otherwise healthy individuals with no overt abnormalities in routine hematological and immunological tests.
BASD* Cholbam
Bile acid synthesis disorders (BASDs) are a group of rare metabolic disorders characterized by defects in the creation (synthesis) of bile acids. Bile acids are chemical compounds found in the liver that have several roles in the body including promoting the flow and excretion of bile and assisting in the intestinal absorption of fat and fat-soluble vitamins. Bile acids are formed from cholesterol and, therefore, bile acid synthesis serves as the main pathway in breaking down and eliminating cholesterol from the body (cholesterol degradation). The failure to produce normal or functional bile acids results in the accumulation of abnormal bile acids and other substances that normally would be broken down (intermediary metabolites) within the body. The resulting accumulation of abnormal bile acids, intermediary metabolites and cholesterol in the body can damage certain organ systems.