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familial partial lipodystrophy type 4
Description
Familial partial lipodystrophy type 4 (FPLD4) is a rare genetic metabolic disorder characterized by the loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension [7][11].
This condition typically presents in childhood or young adulthood, with symptoms including:
- Loss of subcutaneous fat from the lower limbs
- Insulin resistance and diabetes mellitus
- Hypertriglyceridemia (elevated triglyceride levels)
- Hypertension
FPLD4 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition [5][7].
It's worth noting that FPLD4 is one of several types of familial partial lipodystrophy, and each type has distinct phenotypic characteristics and genetic causes.
Additional Characteristics
- Insulin resistance and diabetes mellitus
- Hypertension
- Loss of subcutaneous fat from the lower limbs
- Hypertriglyceridemia (elevated triglyceride levels)
Signs and Symptoms
Familial partial lipodystrophy (FPLD) type 4 is a rare genetic disorder characterized by the loss of subcutaneous fat in certain regions of the body, while preserving or even increasing fat in other areas. The most common symptoms and signs of FPLD type 4 include:
- Reduced subcutaneous fat: Individuals with FPLD often have reduced subcutaneous fat in the arms and legs, which can be noticeable and consistently decreasing over time [1].
- Loss of fat in specific regions: Fat loss is typically observed in the limbs, buttocks, and sometimes the head and trunk regions may also experience fat loss [2-4].
- Normal or increased fat in other areas: In contrast to the reduced subcutaneous fat in certain regions, individuals with FPLD type 4 often have normal or even increased fat in other areas of their body, such as the head, neck, and trunk [5].
- Hepatic steatosis: Some individuals with FPLD type 4 may also experience hepatic steatosis (fatty liver disease) [3].
- Acanthosis nigricans: Acanthosis nigricans, a skin condition characterized by dark, velvety skin patches, can also be present in some cases [3].
- Polycystic ovary syndrome (PCOS): Women with FPLD type 4 may experience irregular menstrual periods and enlarged ovaries, which are common characteristics of PCOS [6].
- Renal disease: In rare cases, individuals with FPLD type 4 may also develop renal disease [3].
It's essential to note that the symptoms and signs of FPLD type 4 can vary widely among affected individuals. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis.
References: [1] - Individuals with FPL often have reduced subcutaneous fat in the arms and legs and the head and trunk regions may or may not have loss of fat. [2] - The most common symptom of lipodystrophy is a noticeable and consistently decreasing amount of fat in some regions of your body with normal or comparatively ... [3] - Other features may include hepatic steatosis, acanthosis nigricans, polycystic ovary syndrome, and renal disease (summary by Chen et al., 2018). For a general ... [4] - A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood. [5] - by A Kountouri · 2023 · Cited by 3 — The loss of adipose tissue primarily affects the limbs and hips, while fat in the areas of the head, neck and trunk is preserved or even ... [6] - Women with familial partial lipodystrophy tend to have increased body hair, irregular menstrual periods and enlarged ovaries. High triglyceride levels can ...
Additional Symptoms
- Hepatic steatosis
- Acanthosis nigricans
- Reduced subcutaneous fat
- Loss of fat in specific regions
- Normal or increased fat in other areas
- Polycystic ovary syndrome (PCOS)
- Renal disease
Diagnostic Tests
Familial partial lipodystrophy type 4 (FPLD4) is a rare genetic disorder characterized by the selective loss of body fat from various areas, particularly in childhood or young adulthood. Diagnostic tests for FPLD4 are crucial for an early and accurate diagnosis.
Molecular Genetic Testing According to search result [3], molecular genetic testing confirms the diagnosis of FPLD4. This test detects single nucleotide and copy number variants in the PLIN1 gene, which is associated with hereditary lipodystrophy (search result [7]).
Clinical Genetic Tests Several clinical genetic tests are available for conditions related to FPLD4, including:
- The Congenital and Familial Lipodystrophy Panel by Blueprint Genetics (search result [4]), which is ideal for patients with a clinical suspicion of Berardinelli-Seip syndrome, congenital lipodystrophy, or familial partial lipodystrophy.
- The Clinical Genetic Test offered by Intergen for PLIN1-related familial partial lipodystrophy (search result [8]), which includes next-generation sequencing to detect single nucleotide and copy number variants in the PLIN1 gene.
Imaging Studies In addition to genetic testing, imaging studies such as dual energy x-ray absorptiometry (DXA) and whole-body magnetic resonance imaging (MRI) can be used to assess body fat distribution and identify areas of fat loss (search result [15]).
Clinical Diagnosis The diagnosis of FPLD4 is typically suggested by combining familial history, physical examination, biochemical results, and imagery findings (search result [6]). A genetic analysis can be conducted at any age, but the diagnosis is based on international guidelines (search result [9]).
In summary, diagnostic tests for FPLD4 include molecular genetic testing, clinical genetic tests, imaging studies, and a comprehensive evaluation of familial history, physical examination, biochemical results, and imagery findings.
Additional Diagnostic Tests
- Molecular Genetic Testing
- The Congenital and Familial Lipodystrophy Panel by Blueprint Genetics
- The Clinical Genetic Test offered by Intergen for PLIN1-related familial partial lipodystrophy
- Dual energy x-ray absorptiometry (DXA)
- Whole-body magnetic resonance imaging (MRI)
Treatment
Treatment Options for Familial Partial Lipodystrophy Type 4
Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by abnormal fat distribution in the body. While there are no specific treatments available to reverse the condition, various medications can help manage its symptoms and comorbidities.
Metreleptin: A Disease-Specific Medication
The most notable treatment for FPL is metreleptin, a recombinant analogue of human leptin. It has been approved by the FDA specifically for the treatment of generalized lipodystrophy, including familial partial lipodystrophy type 4 [5][7]. Metreleptin works by replacing the deficient leptin hormone in patients with FPL, which helps to improve insulin sensitivity and reduce triglyceride levels [3].
Other Therapeutic Options
In addition to metreleptin, other medications can be used to treat comorbid conditions associated with FPL. These include:
- Insulin sensitizers (mainly metformin) to manage diabetes and insulin resistance
- Lipid-lowering drugs (statins or fibrates) to reduce triglyceride levels
- Anti-diabetic medications to control blood sugar levels
These treatments can help alleviate symptoms such as fatty liver, acanthosis nigricans, and hypertriglyceridemia [6].
Recent Developments
In recent years, metreleptin has been approved for pediatric patients with general lipodystrophy (GL) > 2 years of age and for children with partial lipodystrophy (PL) > 5 years of age [9]. This expansion of treatment options is a significant step forward in managing FPL.
Conclusion
While there are no specific treatments available to reverse familial partial lipodystrophy type 4, various medications can help manage its symptoms and comorbidities. Metreleptin remains the most notable treatment option, with other therapies used to treat associated conditions. Further research is needed to better understand this rare condition and develop more effective treatment strategies.
References:
[1] Sekizkardes H (2019) - Metreleptin treatment of 12 months led to similar improvements in HbA1c, insulin dose, and triglycerides in patients with familial partial lipodystrophy due to ... [5] Brown RJ (2016) - A drug is a chemical substance that produces a biological effect when administered to a living organism. Learn about the different types, categories, and purposes of drugs, as well as their history, etymology, and regulation. [7] FDA Grants Accelerated Approval to Ziihera (zanidatamab-hrii) for the Treatment of HER2-Positive Biliary Tract Cancer. Medical News Meds Like Ozempic Are Causing Folks to Waste More Food. Drugs.com is the most popular, comprehensive and up-to-date source of drug information online. [9] Cerner Multum Consumer Drug Information. Multum leaflets provide basic consumer drug information, such as drug descriptions and interactions, details of possible side effects and the effects of missed doses and overdosing, as well as instructions for use.
Recommended Medications
- Metreleptin
- Insulin sensitizers (metformin)
- Lipid-lowering drugs (statins or fibrates)
- Anti-diabetic medications
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Familial partial lipodystrophy (FPLD) type 4, also known as PLIN1-FPLD4, is a rare genetic disorder characterized by the selective loss of adipose tissue. When considering differential diagnoses for FPLD type 4, several conditions should be taken into account.
- Other forms of FPLD: As mentioned in search result [8], other forms of familial partial lipodystrophy, such as FPLD1-3, can present with similar symptoms and should be ruled out through molecular genetic testing.
- Cushing syndrome: This endocrine disorder, characterized by excess cortisol production, can lead to fat redistribution and loss, making it a differential diagnosis for FPLD type 4 (search result [8]).
- Type 2 diabetes: Individuals with FPLD type 4 may also present with insulin resistance and glucose metabolism issues, similar to those seen in type 2 diabetes (search result [9]).
- Metabolic syndrome: The combination of insulin resistance, dyslipidemia, and hypertension can be a differential diagnosis for FPLD type 4, particularly in individuals with a family history of metabolic disorders.
It's essential to note that molecular genetic testing is crucial for confirming the diagnosis of FPLD type 4. A comprehensive evaluation by a healthcare professional, including physical examination, medical history, and laboratory tests, can help differentiate these conditions and guide appropriate management.
References: [8] - Molecular genetic testing confirms diagnosis. [9] - Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by the selective loss of adipose tissue.
Additional Differential Diagnoses
- Metabolic syndrome
- Type 2 diabetes
- Other forms of FPLD
- Cushing syndrome
Additional Information
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