Dunnigan familial partial lipodystrophy: Difference between revisions
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{{Infobox medical condition | |||
| name = Dunnigan familial partial lipodystrophy | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Dunnigan familial partial lipodystrophy is inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = Familial partial lipodystrophy type 2 (FPLD2) | |||
| pronounce = | |||
| specialty = [[Endocrinology]] | |||
| symptoms = Loss of subcutaneous fat from limbs and trunk, accumulation of fat in face and neck, [[insulin resistance]], [[diabetes mellitus]], [[dyslipidemia]] | |||
| onset = [[Puberty]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[LMNA]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], clinical evaluation | |||
| differential = Other forms of [[lipodystrophy]] | |||
| treatment = [[Diet]], [[exercise]], [[metformin]], [[insulin]] | |||
| prognosis = Variable, depends on management of metabolic complications | |||
| frequency = Rare | |||
}} | |||
'''Dunnigan Familial Partial Lipodystrophy''' (also known as '''FPLD''', '''FPLD2''', or '''Kobberling-Dunnigan Syndrome''') is a rare genetic disorder characterized by the abnormal distribution of fat in the body. It is a type of [[lipodystrophy]], a group of conditions that affect the body's ability to produce, use, and store fat. | '''Dunnigan Familial Partial Lipodystrophy''' (also known as '''FPLD''', '''FPLD2''', or '''Kobberling-Dunnigan Syndrome''') is a rare genetic disorder characterized by the abnormal distribution of fat in the body. It is a type of [[lipodystrophy]], a group of conditions that affect the body's ability to produce, use, and store fat. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Dunnigan Familial Partial Lipodystrophy typically become apparent during puberty. Affected individuals may initially appear normal, but as they reach puberty, they begin to lose subcutaneous fat from the arms, legs, and trunk. This is often accompanied by an increase in fat deposits in the face, neck, and intra-abdominal region. Other symptoms may include [[insulin resistance]], [[hypertriglyceridemia]], [[diabetes mellitus]], and [[polycystic ovary syndrome]]. | The symptoms of Dunnigan Familial Partial Lipodystrophy typically become apparent during puberty. Affected individuals may initially appear normal, but as they reach puberty, they begin to lose subcutaneous fat from the arms, legs, and trunk. This is often accompanied by an increase in fat deposits in the face, neck, and intra-abdominal region. Other symptoms may include [[insulin resistance]], [[hypertriglyceridemia]], [[diabetes mellitus]], and [[polycystic ovary syndrome]]. | ||
== Causes == | == Causes == | ||
Dunnigan Familial Partial Lipodystrophy is caused by mutations in the [[LMNA]] gene. This gene provides instructions for making a protein that is an important component of the nuclear envelope, which surrounds the nucleus in cells. Mutations in the LMNA gene disrupt the normal structure and function of the nuclear envelope, leading to the abnormal distribution of fat in the body. | Dunnigan Familial Partial Lipodystrophy is caused by mutations in the [[LMNA]] gene. This gene provides instructions for making a protein that is an important component of the nuclear envelope, which surrounds the nucleus in cells. Mutations in the LMNA gene disrupt the normal structure and function of the nuclear envelope, leading to the abnormal distribution of fat in the body. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Dunnigan Familial Partial Lipodystrophy is based on the clinical symptoms, family history, and genetic testing. Genetic testing can confirm the presence of a mutation in the LMNA gene. | Diagnosis of Dunnigan Familial Partial Lipodystrophy is based on the clinical symptoms, family history, and genetic testing. Genetic testing can confirm the presence of a mutation in the LMNA gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Dunnigan Familial Partial Lipodystrophy. Treatment is focused on managing the symptoms and preventing complications. This may include lifestyle modifications, such as a healthy diet and regular exercise, and medications to manage insulin resistance and high triglyceride levels. | There is currently no cure for Dunnigan Familial Partial Lipodystrophy. Treatment is focused on managing the symptoms and preventing complications. This may include lifestyle modifications, such as a healthy diet and regular exercise, and medications to manage insulin resistance and high triglyceride levels. | ||
== See also == | == See also == | ||
* [[Lipodystrophy]] | * [[Lipodystrophy]] | ||
* [[LMNA]] | * [[LMNA]] | ||
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* [[Diabetes mellitus]] | * [[Diabetes mellitus]] | ||
* [[Polycystic ovary syndrome]] | * [[Polycystic ovary syndrome]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Endocrine diseases]] | [[Category:Endocrine diseases]] | ||
{{genetic-disorder-stub}} | {{genetic-disorder-stub}} | ||
Latest revision as of 19:27, 5 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Dunnigan familial partial lipodystrophy | |
|---|---|
| |
| Synonyms | Familial partial lipodystrophy type 2 (FPLD2) |
| Pronounce | |
| Specialty | Endocrinology |
| Symptoms | Loss of subcutaneous fat from limbs and trunk, accumulation of fat in face and neck, insulin resistance, diabetes mellitus, dyslipidemia |
| Complications | N/A |
| Onset | Puberty |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the LMNA gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other forms of lipodystrophy |
| Prevention | N/A |
| Treatment | Diet, exercise, metformin, insulin |
| Medication | N/A |
| Prognosis | Variable, depends on management of metabolic complications |
| Frequency | Rare |
| Deaths | N/A |
Dunnigan Familial Partial Lipodystrophy (also known as FPLD, FPLD2, or Kobberling-Dunnigan Syndrome) is a rare genetic disorder characterized by the abnormal distribution of fat in the body. It is a type of lipodystrophy, a group of conditions that affect the body's ability to produce, use, and store fat.
Symptoms[edit]
The symptoms of Dunnigan Familial Partial Lipodystrophy typically become apparent during puberty. Affected individuals may initially appear normal, but as they reach puberty, they begin to lose subcutaneous fat from the arms, legs, and trunk. This is often accompanied by an increase in fat deposits in the face, neck, and intra-abdominal region. Other symptoms may include insulin resistance, hypertriglyceridemia, diabetes mellitus, and polycystic ovary syndrome.
Causes[edit]
Dunnigan Familial Partial Lipodystrophy is caused by mutations in the LMNA gene. This gene provides instructions for making a protein that is an important component of the nuclear envelope, which surrounds the nucleus in cells. Mutations in the LMNA gene disrupt the normal structure and function of the nuclear envelope, leading to the abnormal distribution of fat in the body.
Diagnosis[edit]
Diagnosis of Dunnigan Familial Partial Lipodystrophy is based on the clinical symptoms, family history, and genetic testing. Genetic testing can confirm the presence of a mutation in the LMNA gene.
Treatment[edit]
There is currently no cure for Dunnigan Familial Partial Lipodystrophy. Treatment is focused on managing the symptoms and preventing complications. This may include lifestyle modifications, such as a healthy diet and regular exercise, and medications to manage insulin resistance and high triglyceride levels.
See also[edit]
- Lipodystrophy
- LMNA
- Insulin resistance
- Hypertriglyceridemia
- Diabetes mellitus
- Polycystic ovary syndrome
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