Genetic Disease and Counseling
Genetic diseases or disorders are caused by changes in whole, or in a part of a person's DNA sequence away from its normal sequence. There are hundreds of genetic diseases, syndromes, and disorders. Sometimes a when a person knows that a certain condition runs in their family (hereditary, genetic, or familial) he or she may want to get tested for that particular genetic condition. Sometimes your doctor may recommend genetic testing and counseling if you have a genetic predisposition (it makes you susceptible for the disease) for a certain disease, particularly if it's deadly, like breast cancer.
Lipodystrophy definition and facts
- Lipodystrophy refers to medical problem where there is an abnormal distribution of fat in the body. This can refer both to fat loss (lipoatrophy) and abnormal accumulation of fat tissue.
- The disease may be inherited genetically, (for example, familial partial lipodystrophy or FPLD), or acquired. If inherited it may be present at birth (congenital).
- You can get the acquired form after an infection, autoimmune illness, trauma, or repeated pressure or injury on a specific area of the body. (For example, if you have diabetes and you give yourself insulin shots in the same spot every day, you may get lipodystrophy at the injection site.)
- Generalized lipodystrophy happens throughout the body, while the partial form only affects one area of the body.
- If you are infected with HIV (human immunodeficiency syndrome) you have a risk of developing lipodystrophy associated with antiretroviral treatment (for example, protease inhibitors or PIs) for HIV infection. Antiretroviral HIV treatment is directed precisely against the virus that causes HIV.
- Many individuals with lipodystrophy have low blood levels of leptin, a hormone produced by fat cells that's involved in how body fat is regulated.
- A range of biochemical processes (metabolic) abnormalities that affect the health of individuals with this syndrome can include insulin resistance, diabetes (diabetes mellitus), and elevated levels of blood lipids (such as high cholesterol).
- The drug metreleptin (Myalept) has been approved by the US FDA in conjunction with dietary therapy for the treatment of patients with congenital generalized or have the acquired generalized form of the disease who are leptin-deficient.
What is generalized lipodystrophy?
Lipodystrophy is a term that refers to abnormalities of the fat (adipose) tissue in the body. It is a group of rare conditions that are characterized by progressive loss or redistribution of fat, mainly from the tissues beneath the skin (subcutaneous tissues), but loss of fat surrounding the internal organs (visceral fat) also is possible.
What is inherited (familial) lipodystrophy?
Inherited lipodystrophy results from a genetic cause.
- Congenital generalized lipodystrophy (CGL, the Berardinelli-Seip syndrome) is inherited as an autosomal recessive trait.
- There also are several types of the familial partial lipodystrophy (FPLD), such as FPLD type 1 (Kobberling's syndrome), FPLD type 2 (Dunnigan's syndrome), and other rare types of the disease.
What is acquired lipodystrophy?
Acquired lipodystrophy is a form of the syndrome that is not genetic, but develops as a response to another condition. The acquired forms include:
- Acquired generalized lipodystrophy (AGL), or Lawrence syndrome
- Acquired partial lipodystrophy (Barraquer-Simons syndrome) is a disorder that leads to loss of fat in the upper trunk and face, which begins in childhood or adolescence.
- Lipodystrophy induced by protease inhibitors used in HIV infection treatment; this can involve both fat loss and abnormal fat buildup for the patient with HIV.
- Localized, or partial, lipodystrophy, such as at an injection site (for example, from cortisone injection), which typically does not affect the overall health of the patient.
Types of lipodystrophy
There are many different types of lipodystrophy. It can be acquired, or genetic (inherited). The inherited form may be present at birth or develop during childhood (congenital). It may result in fat loss in only one area of the body or throughout the body (generalized).
- Generalized lipodystrophy refers to the situation in which the fat tissue throughout the body is affected (sometimes mistaken for weight or fat gain).
- Partial, or localized, lipodystrophy affects only one area of the body and is not associated with abnormal health generally.
Medically Reviewed by a Doctor on 3/3/2017