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Lipodystrophy
Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, ''lipoatrophy ("lipo" is Greek for "fat", and "dystrophy" is Greek for "abnormal or degenerative condition")'', is used when describing the loss of fat from one area (usually the face). This condition is also characterized by a lack of circulating leptin which may lead to osteosclerosis. The absence of fat tissue is associated with insulin resistance, hypertriglyceridemia, non-alcoholic fatty liver disease (NAFLD) and metabolic syndrome. Types Lipodystrophy can be divided into the following types: *Congenital lipodystrophy syndromes **Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) **Familial partial lipodystrophy **Marfanoid–progeroid–lipodystrophy syndrome ** Chronic atypical neutrophilic d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acquired Generalized Lipodystrophy
Acquired generalized lipodystrophy (also known as "Lawrence syndrome," and "Lawrence–Seip syndrome", abbreviation: AGL) is a rare skin condition that appears during childhood or adolescence, characterized by fat loss affecting large areas of the body, particularly the face, arms, and legs. There are 4 types of lipodystrophy based on its onset and areas affected: acquired or inherited (congenital or familial), and generalized or partial. Both acquired or inherited lipodystrophy present as loss of adipose tissues, in the absence of nutritional deprivation. The near-total loss of subcutaneous adipose tissue is termed generalized lipodystrophy while the selective loss of adipose tissues is denoted as partial lipodystrophy. Thus, as the name suggests, AGL is a near-total deficiency of adipose tissues in the body that is developed later in life. It is an extremely rare disease that only about 100 cases are reported worldwide. There are three main etiologies of AGL suspected: autoimmune ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy (also known as Berardinelli–Seip lipodystrophy) is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. It is a type of lipodystophy disorder where the magnitude of fat loss determines the severity of metabolic complications. Only 250 cases of the condition have been reported, and it is estimated that it occurs in 1 in 10 million people worldwide. Presentation Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder which manifests with insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Homozygous or compound heterozygous mutations in four genes are associated with the four subtypes of CGL. The condition appears in early childhood with accelerated linear growth, quick aging of bones, and a large appetite. As the child grows up, acanthosis nigricans (hyperpigmentation and thickening of skin) will begin to present itself throu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marfanoid–progeroid–lipodystrophy Syndrome
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy. It is a genetic condition that is caused by mutations in the ''FBN1'' gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone. As of 2016, fewer than 10 cases of the condition have been reported. Lizzie Velásquez and Abby Solomon have become known publicly through the media for having the condition. In addition to severe lipodystrophy (loss of adipose tissue), individuals with MPL show a concomitant marked loss of lean tissue mass, which ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HIV-associated Lipodystrophy
HIV-associated lipodystrophy is a condition characterized by loss of subcutaneous fat associated with infection with HIV. Presentation HIV-associated lipodystrophy commonly presents with fat loss in face, buttocks, arms and legs. There is also fat ''accumulation'' in various body parts. Patients often present with "buffalo hump"-like fat deposits in their upper backs. Breast size of patients (both male and female) tends to increase. In addition, patients develop abdominal obesity. Cause The exact mechanism of HIV-associated lipodystrophy is not fully elucidated. There is evidence indicating both that it can be caused by anti-retroviral medications and that it can be caused by HIV infection in the absence of anti-retroviral medication. Evidence implicating anti-retroviral medications On the one hand, lipodystrophy seems to be mainly due to HIV-1 protease inhibitors. Interference with lipid metabolism is postulated as pathophysiology. Also, the development of lipodystrophy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leptin
Leptin (from Ancient Greek, Greek λεπτός ''leptos'', "thin" or "light" or "small") is a hormone predominantly made by adipose cells and enterocytes in the small intestine that helps to regulate Energy homeostasis, energy balance by inhibiting Hunger (motivational state), hunger, which in turn diminishes fat storage in adipocytes. Leptin is coded for by the ''LEP'' gene. Leptin acts on cell receptors in the arcuate nucleus, arcuate and Ventromedial nucleus of the hypothalamus, ventromedial nuclei, as well as other parts of the hypothalamus and Dopamine, dopaminergic neurons of the ventral tegmental area, consequently mediating Eating, feeding. Although regulation of fat stores is deemed to be the primary function of leptin, it also plays a role in other physiological processes, as evidenced by its many sites of synthesis other than fat cells, and the many cell types beyond hypothalamic cells that have leptin receptors. Many of these additional functions are yet to be fully ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial Partial Lipodystrophy
Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. The upper section of the body, face, neck, shoulders, back and trunk carry an excess amount of fat. As the body is unable to store fat correctly this leads to fat around all the vital organs and in the blood (triglycerides). This results in heart problems, cirrhosis of the liver, lipoatrophic diabetes, and pancreatitis, along with various other complications. Types Presentation Type 1 is believed to be underdiagnosed. Genetics A mutations in a number of genes have been associated with this condition. Mutations associated with FPL have been reported in ''LMNA'' (lamin A/C), ''PPARG'' (PPARγ), ''AKT2'' (AKT serine/threonine kinase 2), ''PLIN1'' (perilipin-1), and '' CIDEC'' (cell-death-induc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CANDLE Syndrome
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autosomal recessive disorder that presents itself via various autoinflammatory responses throughout the body, multiple types of skin lesions, and recurrent long-term fever symptoms. The current known cause for the disorder is a mutation in the PSMB8 gene or mutations in other closely related genes. The syndrome was first named and classified in March 2010 after four patients were reviewed with similar symptoms. There have been approximately 30 cases reported in the scientific literature as of 2015. Signs and symptoms The symptoms of CANDLE syndrome can manifest themselves in a variety of different ways and combinations related to skin disorders, internal inflammatory responses, and fever-based conditions. The types of outwardly visible conditions involve Facies (medical), facies not matching other known disorders, contracture of the joints, and skin lesions appearing across a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metabolic Syndrome
Metabolic syndrome is a clustering of at least three of the following five medical conditions: abdominal obesity, high blood pressure, high blood sugar, high serum triglycerides, and low serum high-density lipoprotein (HDL). Metabolic syndrome is associated with the risk of developing cardiovascular disease and type 2 diabetes. In the U.S., about 25% of the adult population has metabolic syndrome, a proportion increasing with age, particularly among racial and ethnic minorities. Insulin resistance, metabolic syndrome, and prediabetes are closely related to one another and have overlapping aspects. The syndrome is thought to be caused by an underlying disorder of energy utilization and storage. The cause of the syndrome is an area of ongoing medical research. Signs and symptoms The key sign of metabolic syndrome is central obesity, also known as visceral, male-pattern or apple-shaped adiposity. It is characterized by adipose tissue accumulation predominantly around the wais ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Antiretroviral Drug
The management of HIV/AIDS normally includes the use of multiple antiretroviral drugs as a strategy to control HIV infection. There are several classes of antiretroviral agents that act on different stages of the HIV life-cycle. The use of multiple drugs that act on different viral targets is known as highly active antiretroviral therapy (HAART). HAART decreases the patient's total burden of HIV, maintains function of the immune system, and prevents opportunistic infections that often lead to death. HAART also prevents the transmission of HIV between serodiscordant same sex and opposite sex partners so long as the HIV-positive partner maintains an undetectable viral load. Treatment has been so successful that in many parts of the world, HIV has become a chronic condition in which progression to AIDS is increasingly rare. Anthony Fauci, head of the United States National Institute of Allergy and Infectious Diseases, has written, "With collective and resolute action now and a steadfa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lipoatrophy
Lipoatrophy is the term describing the localized loss of fat tissue. This may occur as a result of subcutaneous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutaneous injections of copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy occurs in HIV-associated lipodystrophy, one cause of which is an adverse drug reaction that is associated with some antiretroviral medications. A more general term for an abnormal or degenerative condition of the entire body's adipose tissue is ''lipodystrophy Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue. ...''. References External links Symptoms and signs {{Symptom-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Centrifugal Abdominal Lipodystrophy
Centrifugal abdominal lipodystrophy is a skin condition characterized by areas of subcutaneous fat loss that slowly enlarge. See also * Lipodystrophy * List of cutaneous conditions * Skin lesion A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this s ... References Conditions of the subcutaneous fat {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Localized Lipodystrophy
Localized lipodystrophy is a skin condition characterized by the loss of subcutaneous fat localized to sites of insulin injection. See also * Lipodystrophy * List of cutaneous conditions * Skin lesion A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this s ... References External links Conditions of the subcutaneous fat {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
