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familial partial lipodystrophy type 1

Description

Familial partial lipodystrophy (FPLD) type 1, also known as Type 1 FPLD, is a rare genetic disorder characterized by selective and progressive loss of body fat (adipose tissue) from various areas of the body.

Key Features:

  • Early-onset: Type 1 FPLD typically begins in early childhood or adolescence.
  • Autosomal-dominant inheritance: The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the disorder.
  • Fat loss from lower limbs and trunk: Fat loss is most commonly observed in the lower limbs, buttocks, and trunk, with relative sparing of the face, neck, and upper limbs.

Other characteristics:

  • Abnormal fat distribution: Type 1 FPLD is characterized by an abnormal distribution of fatty tissue, leading to a range of physical symptoms.
  • Progressive nature: The condition tends to progress over time, with increasing loss of body fat and potentially severe consequences for overall health.

References:

  • [9] Type 1 familial partial lipodystrophy was an early-onset, autosomal-dominant lipodystrophy, characterized by fat loss in the lower limbs and abnormal fat distribution.
  • [8] Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue.

Additional Characteristics

  • Abnormal fat distribution
  • Selective and progressive loss of body fat
  • Early-onset, typically begins in early childhood or adolescence
  • Autosomal-dominant inheritance
  • Fat loss from lower limbs and trunk
  • Relative sparing of the face, neck, and upper limbs
  • Progressive nature

Signs and Symptoms

Familial partial lipodystrophy type 1 (FPLD1) 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 FPLD1 can vary from person to person, but here are some common ones:

  • Reduced subcutaneous fat: Individuals with FPLD1 often have reduced subcutaneous fat in the arms and legs, which may be noticeable and consistently decreasing over time [1].
  • Loss of fat in specific regions: The most common symptom of lipodystrophy is a noticeable and consistently decreasing amount of fat in some regions of the body, such as the limbs, buttocks, or torso, while fat in other areas like the face, chin, and trunk may be preserved or even increased [2].
  • Muscle prominence: A thorough clinical examination may reveal abnormal topography of adipose tissue deposition, increased or prominent musculature, phlebomegaly (prominent veins), and muscle weakness (myopathy) in some individuals with FPLD1 [3].
  • Metabolic complications: Severe insulin resistance, hyperglycemia, severe hypertriglyceridemia, progressive liver dysfunction, and other metabolic complications can also occur in individuals with FPLD1 [4].

It's essential to note that the symptoms of FPLD1 may not be immediately apparent and can develop gradually over time. A proper diagnosis by a healthcare professional is necessary for an accurate assessment and treatment plan.

References: [1] Context result 1 [2] Context result 2 [3] Context result 4 [4] Context result 8

Additional Symptoms

  • Metabolic complications
  • Reduced subcutaneous fat
  • Loss of fat in specific regions
  • Muscle prominence

Diagnostic Tests

Familial partial lipodystrophy type 1 (FPLD1) is a rare genetic disorder characterized by the selective loss of adipose tissue, particularly in the lower extremities and abdominal visceral region. Diagnosing FPLD1 can be challenging due to its similarity with other conditions such as android obesity and metabolic syndrome.

Diagnostic Approaches:

  • Molecular Genetic Testing: This is a crucial diagnostic tool for confirming a diagnosis of FPLD1. Next-generation sequencing can detect single nucleotide and copy number variants in 12 genes associated with hereditary lipodystrophy [4].
  • Clinical Genetic Test: A clinical genetic test, such as the one offered by Fulgent Genetics, can also confirm a diagnosis of FPLD1 [7].
  • Imaging Studies: Imaging studies like dual-energy X-ray absorptiometry (DXA) and whole-body magnetic resonance imaging (MRI) can help identify fat loss in the lower limbs and abnormal fat accumulation in the abdominal visceral region [9].

Other Diagnostic Tests:

  • Lipid Panel: A lipid panel, which measures certain fat molecules called lipids in the blood, may be performed to rule out other conditions such as Cushing syndrome and type 2 diabetes [8].
  • Anthropometry: Conventional anthropometry, including skinfold thickness measurements, can also be used to assess body composition and identify potential fat loss patterns [9].

Important Considerations:

  • A KöB index >3.477 is highly suggestive of FPLD1 syndrome [11].
  • Genetic testing for common forms of partial lipodystrophy (LMNA and PPARG mutations) may be negative, but whole-exome sequencing results can provide further insights into the diagnosis [14].

It's essential to consult with a healthcare professional or a genetic counselor to determine the best diagnostic approach for an individual suspected of having FPLD1.

Additional Diagnostic Tests

  • Imaging Studies
  • Lipid Panel
  • Molecular Genetic Testing
  • Clinical Genetic Test
  • Anthropometry

Treatment

Treatment Options for Familial Partial Lipodystrophy Type 1

Familial partial lipodystrophy type 1 (FPLD1) is a rare genetic disorder characterized by the loss or abnormal distribution of fat tissue in certain areas of the body. While there is no cure for FPLD1, various treatment options can help manage its symptoms and improve quality of life.

Insulin Sensitizers

  • Metformin, an insulin sensitizer, has been found to be helpful in managing diabetes and hypertriglyceridemia associated with FPLD1 [3][9].
  • Other insulin sensitizers like pioglitazone may also be beneficial, but their use should be carefully considered due to potential side effects [3].

Lipid-Lowering Drugs

  • Statins can help reduce triglyceride levels and improve cardiovascular health in individuals with FPLD1 [3][9].
  • Fibrates may be prescribed in cases of major hypertriglyceridemia [3].

Metreleptin

  • Metreleptin, a recombinant analogue of human leptin, has been approved for the treatment of generalized lipodystrophy and may also be beneficial for individuals with FPLD1 [5][7].
  • However, its use should be carefully considered due to potential side effects and limited availability.

Other Treatment Options

  • Insulin therapy may be necessary to manage diabetes associated with FPLD1.
  • Lipid-lowering diets and lifestyle modifications can also help improve overall health and reduce the risk of complications.

It's essential to consult a healthcare professional for personalized advice on managing FPLD1. They can help determine the best treatment plan based on individual needs and circumstances.

References:

[3] Insulin sensitizers (mainly metformin) and lipid-lowering drugs (statins, or fibrates in case of major hypertriglyceridemia) can also be helpful. Diabetes may require insulin therapy. [5] by F Mainieri · 2022 · Cited by 7 — Recently, metreleptin was approved by Food and Drug Administration (FDA) for the treatment of generalized lipodystrophy and by European Medicines Agency (EMA) ... [7] by D Araújo-Vilar · 2019 · Cited by 195 — Metreleptin (Myalept®, Aegerion Pharmaceuticals, Cambridge, MA, USA) is the only drug indicated specifically for the treatment of lipodystrophy, although many ...

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Differential Diagnosis

Familial partial lipodystrophy (FPLD) type 1, also known as FPLD1 or PLIN1-FPLD4, is a rare genetic disorder characterized by the selective loss of adipose tissue. When diagnosing FPLD1, it's essential to consider differential diagnoses that can mimic its symptoms.

Other forms of FPLD: The first differential diagnosis to consider is other forms of familial partial lipodystrophy (FPLD). These include:

  • FPLD2: This form of FPLD is caused by mutations in the LMNA gene and presents with a more severe loss of subcutaneous fat.
  • FPLD3: Also known as Dunnigan-type FPLD, this form is characterized by a more pronounced loss of fat in the arms and legs.

Cushing syndrome: Another differential diagnosis to consider is Cushing syndrome, which can present with similar symptoms such as weight gain, particularly in the trunk region, and insulin resistance. However, Cushing syndrome is typically caused by excess cortisol production due to an adrenal gland disorder or a pituitary tumor.

Type 2 diabetes: Type 2 diabetes can also be considered a differential diagnosis for FPLD1, especially since individuals with FPLD often have insulin resistance and hypertriglyceridemia. However, type 2 diabetes is typically caused by a combination of genetic and environmental factors rather than a specific genetic mutation.

Other conditions: Other conditions that may be considered in the differential diagnosis of FPLD1 include:

  • Lipodystrophy syndromes: These are a group of rare disorders characterized by the selective loss or gain of adipose tissue.
  • Metabolic syndrome: This is a cluster of conditions including insulin resistance, high blood pressure, and abnormal lipid profiles that can increase the risk of developing type 2 diabetes and cardiovascular disease.

Molecular genetic testing: The definitive diagnosis of FPLD1 is made through molecular genetic testing, which confirms the presence of mutations in the PLIN1 gene. This testing can help differentiate FPLD1 from other forms of lipodystrophy and metabolic disorders.

References:

  • [4] by I Jéru · 2017 · Cited by 15 — PLIN1—FPLD4 is an autosomal dominant disorder.
  • [3] by C Bagias · 2020 · Cited by 64 — Familial partial lipodystrophy (FPLD) presents with genetic and phenotypic variability with insulin resistance, hypertriglyceridemia and hepatic steatosis ...
  • [7] Molecular genetic testing confirms diagnosis.
  • [9] by L Rutkowska · 2022 · Cited by 12 — 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
  • Cushing syndrome
  • FPLD2
  • Lipodystrophy syndromes

Additional Information

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