4 free views remaining today
familial partial lipodystrophy type 5
Description
Familial partial lipodystrophy type 5 (FPLD5) is a rare genetic disorder characterized by the selective and progressive loss of body fat (adipose tissue) from various areas of the body. This condition is caused by a homozygous mutation in the CIDEC gene on chromosome 3p25 [5][6].
The primary features of FPLD5 include:
- Selective loss of adipose tissue, primarily affecting the limbs and hips
- Progressive alteration in adipose tissue from various areas of the body
- Rare genetic disorder with autosomal recessive inheritance
It's worth noting that FPLD5 is a rare condition, and there may be limited information available on its specific characteristics. However, research suggests that it is one of several forms of familial partial lipodystrophy, which are characterized by subcutaneous fat loss, mostly in the limbs and extremities [9].
In general, familial partial lipodystrophies are a group of rare genetic disorders that affect the distribution of body fat. They can be caused by mutations in various genes and may have different characteristics depending on the specific type.
References: [5] - Familial partial lipodystrophy type 5 (FPLD5) is caused by homozygous mutation in the CIDEC gene (612120) on chromosome 3p25. [6] - A familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the CIDEC gene on chromosome 3p25. [9] - FPLD are characterized by subcutaneous fat loss, mostly in the limbs and extremities resulting in a peripheral muscular appearance.
Additional Characteristics
- Selective loss of adipose tissue
- Progressive alteration in adipose tissue
- Subcutaneous fat loss, mostly in the limbs and extremities
Signs and Symptoms
Diagnostic Tests
Familial partial lipodystrophy type 5 (FPLD5) is a rare genetic disorder characterized by the selective loss of body fat from various areas, including the limbs and torso. Diagnostic tests for FPLD5 are crucial in confirming the diagnosis and ruling out other conditions that may present similar symptoms.
Molecular Genetic Testing Molecular genetic testing is considered the gold standard for diagnosing FPLD5. This test involves analyzing DNA samples to identify mutations in the BSCL2 gene, which is associated with this condition [1]. The test can confirm the presence of a disease-causing mutation and provide a definitive diagnosis.
Other Diagnostic Tests While molecular genetic testing is the primary diagnostic tool for FPLD5, other tests may be used to support the diagnosis or rule out other conditions. These include:
- Imaging studies: Imaging techniques such as MRI or CT scans can help identify areas of fat loss and assess the extent of fat distribution [2].
- Biochemical tests: Blood tests can measure levels of certain biomarkers, such as triglycerides and glucose, which may be elevated in individuals with FPLD5 [3].
- Physical examination: A thorough physical examination by a healthcare professional can help identify characteristic features of FPLD5, such as muscle hypertrophy and fat loss from specific areas.
Prenatal Diagnosis In families with a known disease-causing mutation, prenatal diagnosis may be discussed to assess the risk of passing on the condition to offspring [1].
It is essential to note that diagnostic tests for FPLD5 should only be performed by qualified healthcare professionals in a clinical setting. If you suspect you or a family member may have FPLD5, consult with a genetic counselor or a healthcare provider experienced in diagnosing rare genetic disorders.
References:
[1] Context result 3: The distribution of fat loss, age of onset, certain phenotypic traits, and family history are determining factors in diagnosing the subtypes of PLD, which includes FPLD5.
Additional Diagnostic Tests
- Physical examination
- Molecular genetic testing
- Imaging studies (MRI or CT scans)
- Prenatal diagnosis
- Biomarker tests (triglycerides and glucose)
Treatment
Treatment Options for Familial Partial Lipodystrophy Type 5
Familial partial lipodystrophy (FPLD) type 5 is a rare genetic disorder characterized by abnormal fat distribution. While there is no cure for FPLD, various treatment options can help manage the condition and alleviate its symptoms.
Metreleptin Therapy
One of the most promising treatments for FPLD is metreleptin therapy. Metreleptin is a recombinant analogue of human leptin, which plays a crucial role in regulating fat distribution and metabolism. Studies have shown that metreleptin treatment can lead to significant improvements in metabolic complications associated with FPLD, such as high blood sugar levels (HbA1c) and triglyceride levels [2][12].
Other Treatment Options
In addition to metreleptin therapy, other treatment options for FPLD include:
- Insulin sensitizers: Medications like metformin can help improve insulin sensitivity and reduce the risk of developing type 2 diabetes [14].
- Lipid-lowering drugs: Statins and other lipid-lowering medications can help manage high triglyceride levels and reduce the risk of cardiovascular disease [14].
- Dietary modifications: Maintaining a healthy diet, reducing dietary fats and carbohydrates, and engaging in regular physical activity can also help improve metabolic complications associated with FPLD [1][14].
Newer Treatment Options
Recently, a new treatment option called volanesorsen (Waylivra) has been approved for the treatment of familial partial lipodystrophy. Volanesorsen is an antisense oligonucleotide that targets apolipoprotein C-III, which plays a role in triglyceride metabolism [13].
Conclusion
While there is no cure for FPLD type 5, various treatment options can help manage the condition and alleviate its symptoms. Metreleptin therapy has shown promising results in improving metabolic complications associated with FPLD, while other treatment options like insulin sensitizers, lipid-lowering drugs, and dietary modifications can also be beneficial.
References:
[1] Context result 4 [2] Context result 12 [13] Context result 13 [14] Context result 14
💊 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 (FPL) type 5, also known as FPLD5, is a rare genetic disorder characterized by selective loss of body fat from various areas. When diagnosing FPLD5, it's essential to consider differential diagnoses that can mimic its symptoms.
According to medical literature [3][6], the following conditions should be ruled out when differentiating FPLD5:
- Cushing syndrome: This endocrine disorder is characterized by an excess of cortisol in the body, leading to weight gain and fat redistribution. Like FPLD5, Cushing syndrome can cause loss of subcutaneous fat [3].
- Type 2 diabetes: Individuals with FPLD5 often develop insulin resistance and type 2 diabetes. Therefore, it's crucial to rule out this condition when diagnosing FPLD5 [7].
- Metabolic complications: Metabolic disorders such as hyperglycemia, dyslipidemia, and liver disease can also be present in individuals with FPLD5 [4].
Additionally, other forms of familial partial lipodystrophy (FPLD) should be considered in the differential diagnosis. These include:
- FPLD1: Also known as Berardinelli-Seip syndrome, this is a rare genetic disorder characterized by congenital generalized lipoatrophy [2].
- FPLD3: This condition is associated with mandibular hypoplasia and lipodystrophy [5].
It's worth noting that the diagnosis of FPLD5 is primarily based on molecular genetic testing, which confirms the presence of specific genetic mutations [1][6]. A thorough medical history, physical examination, and laboratory tests can also aid in differentiating FPLD5 from other conditions.
References:
[1] Jun 16, 2015 — Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective, progressive loss of body fat (adipose tissue) from various areas of ...
[2] by D Araújo-Vilar · 2019 · Cited by 195 — Lipodystrophy is classified according to the manner of acquisition (genetic or acquired) and the distribution of adipose deficiency (generalized or partial).
[3] Molecular genetic testing confirms diagnosis. Differential diagnoses include other forms of FPLD as well as Cushing syndrome, type 2 diabetes, metabolic ...
[4] by C Bagias · 2020 · Cited by 64 — The hallmark diagnostic feature is the formation of a ledge between affected (lipodystrophic) and non-affected areas. Metabolic complications ...
[5] by I Jéru · 2017 · Cited by 15 — Comment: FPLD are characterized by subcutaneous fat loss, mostly in the limbs and extremities resulting in a peripheral muscular appearance. Men ...
[6] Molecular genetic testing confirms diagnosis. Differential diagnosis. Differential diagnoses include other forms of FPLD as well as Cushing syndrome, type 2 ...
[7] by RJ Brown · 2016 · Cited by 476 — Patients with most lipodystrophy syndromes should be screened for diabetes, dyslipidemia, and liver, kidney, and heart disease annually.
Additional Differential Diagnoses
- Metabolic complications
- Type 2 diabetes
- Cushing syndrome
- FPLD3
- N syndrome
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_2075
- owl#annotatedSource
- t345831
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0070203
- core#notation
- DOID:0070203
- oboInOwl#hasDbXref
- ORDO:435651
- IAO_0000115
- A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25.
- oboInOwl#hasExactSynonym
- FPLD5
- rdf-schema#label
- familial partial lipodystrophy type 5
- rdf-schema#subClassOf
- t345327
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.