familial partial lipodystrophy type 3

Familial partial lipodystrophy type 3 (FPLD3) is a rare genetic disorder characterized by the selective loss of fatty tissue in specific areas of the body [5]. The condition typically affects adults, with symptoms including distal lipoatrophy (loss of fat in the extremities), gluteofemoral fat loss, and increased fat accumulation in other areas [3].

The pathophysiology of FPLD3 is usually associated with a heterozygous mutation in the PPARG gene [7]. This genetic mutation leads to an abnormal distribution of fatty tissue, resulting in the characteristic symptoms of the condition.

In terms of description, FPLD3 is characterized by:

• Loss of fatty tissue in the upper and lower limbs
• Gluteal region fat loss
• Increased fat accumulation in other areas
• Adult onset of distal lipoatrophy

It's worth noting that FPLD3 is a rare condition, and more research is needed to fully understand its characteristics and effects on individuals [9].

References: [3] - Context result 3 [5] - Context result 5 [7] - Context result 7 [9] - Context result 9

Familial partial lipodystrophy type 3 (FPLD3) 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 signs and symptoms of FPLD3 can vary from person to person, but here are some common ones:

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Familial partial lipodystrophy type 3 (FPLD3) is a rare genetic disorder characterized by the selective loss of adipose tissue, and diagnostic testing plays a crucial role in confirming the diagnosis.

Molecular Genetic Testing The most accurate method for diagnosing FPLD3 is molecular genetic testing. This test detects mutations in the LMNA gene, which is responsible for the condition [1]. The test involves next-generation sequencing to identify single nucleotide and copy number variants in the LMNA gene [8].

Clinical Genetic Test A clinical genetic test offered by DNA Labs India also includes testing for the PPARG gene, which is associated with hereditary lipodystrophy [9]. This test can help confirm a diagnosis of FPLD3.

Imaging Studies While not diagnostic on their own, imaging studies such as MRI and CT scans can provide valuable information about the distribution of fat loss in individuals suspected to have FPLD3. These studies can help identify areas where fat has been lost or is being lost [5].

Genetic Counseling In addition to diagnostic testing, genetic counseling is essential for families with a known disease-causing mutation. This counseling can provide guidance on prenatal diagnosis and other reproductive options [2].

It's worth noting that differential diagnoses include other forms of FPLD as well as Cushing syndrome, type 2 diabetes, metabolic syndrome, and acquired lipodystrophy [1]. Therefore, a comprehensive diagnostic approach is necessary to confirm the diagnosis of FPLD3.

References: [1] Context result 1 [2] Context result 2 [5] Context result 5 [8] Context result 8 [9] Context result 9

Familial partial lipodystrophy type 3 (FPLD3) is a rare genetic disorder characterized by the loss of subcutaneous fat from the extremities, with sparing of the face, neck, and variably the trunk [10]. In terms of drug treatment for FPLD3, there are limited options available.

One study has reported on the use of pioglitazone in a patient with FPLD3, resulting in an excellent response [5]. Pioglitazone is a thiazolidinedione that improves insulin sensitivity and can be beneficial in managing metabolic complications associated with FPLD3.

Additionally, metreleptin has been approved by the U.S. Food and Drug Administration (FDA) for the treatment of generalized lipodystrophies, including familial partial lipodystrophy [9]. However, its efficacy specifically in patients with FPLD3 is not well established.

Other medications that may be helpful in managing metabolic complications associated with FPLD3 include insulin sensitizers such as metformin and lipid-lowering drugs like statins or fibrates [6].

It's worth noting that the treatment of FPLD3 is often focused on managing the metabolic complications associated with the condition, rather than directly addressing the lipodystrophy itself. Further research is needed to better understand the optimal treatment approach for patients with FPLD3.

References: [5] Cohen B (2021) - Targeted Therapeutic Approach in Patients With Familial Partial Lipodystrophy Type 3 [6] Lambadiari V (2021) - Metreleptin, a recombinant analogue of human leptin, was the first disease-specific medication which was approved by U.S. Food and Drug Administration (FDA) [9] Kountouri A (2023) - Metreleptin, a recombinant analogue of human leptin [10] Araújo-Vilar D (2019) - Metreleptin (Myalept®, Aegerion Pharmaceuticals, Cambridge, MA, USA) is the only drug indicated specifically for the treatment of lipodystrophy

Differential Diagnosis of Familial Partial Lipodystrophy Type 3