Familial partial lipodystrophy: Difference between revisions
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{{Infobox medical condition | |||
| name = Familial partial lipodystrophy | |||
| synonyms = FPLD | |||
| image = | |||
| caption = | |||
| field = [[Endocrinology]] | |||
| symptoms = Loss of subcutaneous fat, insulin resistance, [[hypertriglyceridemia]], [[acanthosis nigricans]], [[polycystic ovary syndrome]] | |||
| complications = [[Diabetes mellitus]], [[cardiovascular disease]], [[non-alcoholic fatty liver disease]] | |||
| onset = Childhood or adolescence | |||
| duration = Lifelong | |||
| types = [[Dunnigan-type familial partial lipodystrophy]], [[Köbberling-type familial partial lipodystrophy]], [[Mandel's type familial partial lipodystrophy]] | |||
| causes = Genetic mutations (e.g., [[LMNA]], [[PPARG]], [[AKT2]]) | |||
| risks = Family history | |||
| diagnosis = Clinical evaluation, genetic testing | |||
| differential = [[Cushing's syndrome]], [[metabolic syndrome]], [[HIV-associated lipodystrophy]] | |||
| treatment = [[Diet]], [[exercise]], [[metformin]], [[insulin sensitizers]], [[lipid-lowering agents]] | |||
| medication = [[Metformin]], [[thiazolidinediones]], [[fibrates]] | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Familial partial lipodystrophy''' (FPL) is a rare genetic disorder characterized by the selective loss of subcutaneous fat from various parts of the body. This condition is inherited in an autosomal dominant manner, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. | '''Familial partial lipodystrophy''' (FPL) is a rare genetic disorder characterized by the selective loss of subcutaneous fat from various parts of the body. This condition is inherited in an autosomal dominant manner, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of familial partial lipodystrophy typically become noticeable during puberty. Affected individuals often have a lack of fatty tissue in the arms, legs, and trunk, and may have excessive fat deposits in the face and neck. Other symptoms may include [[insulin resistance]], [[hypertriglyceridemia]], [[hypertension]], and [[diabetes mellitus]]. | The symptoms of familial partial lipodystrophy typically become noticeable during puberty. Affected individuals often have a lack of fatty tissue in the arms, legs, and trunk, and may have excessive fat deposits in the face and neck. Other symptoms may include [[insulin resistance]], [[hypertriglyceridemia]], [[hypertension]], and [[diabetes mellitus]]. | ||
== Causes == | == Causes == | ||
Familial partial lipodystrophy is caused by mutations in the [[LMNA]] or [[PPARG]] genes. These genes provide instructions for making proteins that are involved in the regulation of fat cell differentiation and growth. | Familial partial lipodystrophy is caused by mutations in the [[LMNA]] or [[PPARG]] genes. These genes provide instructions for making proteins that are involved in the regulation of fat cell differentiation and growth. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of familial partial lipodystrophy is based on the clinical symptoms, family history, and genetic testing. Genetic testing can confirm the diagnosis and identify the specific gene mutation. | Diagnosis of familial partial lipodystrophy is based on the clinical symptoms, family history, and genetic testing. Genetic testing can confirm the diagnosis and identify the specific gene mutation. | ||
== Treatment == | == Treatment == | ||
Treatment for familial partial lipodystrophy is focused on managing the symptoms and preventing complications. This may include lifestyle modifications, medication to control diabetes and high cholesterol, and in some cases, plastic surgery to improve appearance. | Treatment for familial partial lipodystrophy is focused on managing the symptoms and preventing complications. This may include lifestyle modifications, medication to control diabetes and high cholesterol, and in some cases, plastic surgery to improve appearance. | ||
== See also == | == See also == | ||
* [[Lipodystrophy]] | * [[Lipodystrophy]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Insulin resistance]] | * [[Insulin resistance]] | ||
* [[Diabetes mellitus]] | * [[Diabetes mellitus]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Endocrine disorders]] | [[Category:Endocrine disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 02:56, 4 April 2025
| Familial partial lipodystrophy | |
|---|---|
| Synonyms | FPLD |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Loss of subcutaneous fat, insulin resistance, hypertriglyceridemia, acanthosis nigricans, polycystic ovary syndrome |
| Complications | Diabetes mellitus, cardiovascular disease, non-alcoholic fatty liver disease |
| Onset | Childhood or adolescence |
| Duration | Lifelong |
| Types | Dunnigan-type familial partial lipodystrophy, Köbberling-type familial partial lipodystrophy, Mandel's type familial partial lipodystrophy |
| Causes | Genetic mutations (e.g., LMNA, PPARG, AKT2) |
| Risks | Family history |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Cushing's syndrome, metabolic syndrome, HIV-associated lipodystrophy |
| Prevention | N/A |
| Treatment | Diet, exercise, metformin, insulin sensitizers, lipid-lowering agents |
| Medication | Metformin, thiazolidinediones, fibrates |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | |
Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by the selective loss of subcutaneous fat from various parts of the body. This condition is inherited in an autosomal dominant manner, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.
Symptoms[edit]
The symptoms of familial partial lipodystrophy typically become noticeable during puberty. Affected individuals often have a lack of fatty tissue in the arms, legs, and trunk, and may have excessive fat deposits in the face and neck. Other symptoms may include insulin resistance, hypertriglyceridemia, hypertension, and diabetes mellitus.
Causes[edit]
Familial partial lipodystrophy is caused by mutations in the LMNA or PPARG genes. These genes provide instructions for making proteins that are involved in the regulation of fat cell differentiation and growth.
Diagnosis[edit]
Diagnosis of familial partial lipodystrophy is based on the clinical symptoms, family history, and genetic testing. Genetic testing can confirm the diagnosis and identify the specific gene mutation.
Treatment[edit]
Treatment for familial partial lipodystrophy is focused on managing the symptoms and preventing complications. This may include lifestyle modifications, medication to control diabetes and high cholesterol, and in some cases, plastic surgery to improve appearance.
See also[edit]
References[edit]
<references />
