congenital generalized lipodystrophy type 2

Congenital Generalized Lipodystrophy Type 2 (CGL2) Description

Congenital Generalized Lipodystrophy Type 2, also known as CGL2, is a rare and severe form of lipodystrophy characterized by an almost complete lack of fatty tissue in the body since birth. This condition is caused by homozygous or compound heterozygous mutations in the gene encoding seipin (BSCL2; 606158) on chromosome 11q12.

Key Features:

• Generalized Lipoatrophy: A near complete lack of fatty tissue in the body since birth.
• Muscular Appearance: Individuals with CGL2 often have a very muscular appearance due to the absence of fat tissue.
• Intellectual Disability: Type 2 is associated with intellectual disability, which is usually mild to moderate.

Other Symptoms:

• Early Onset Diabetes: Patients may experience early onset diabetes due to extreme insulin resistance.
• Hypertriglyceridemia: Elevated levels of triglycerides in the blood.
• Hepatic Steatosis: Fatty liver disease.

Genetic Basis: CGL2 is caused by mutations in the BSCL2 gene, which codes for seipin. This protein plays a crucial role in regulating fat storage and metabolism.

References:

• [1] Congenital generalized lipodystrophy type 2 (https://www.)
• [4] Congenital generalized lipodystrophy Description
• [11] Congenital generalized lipodystrophy (also known as Berardinelli–Seip lipodystrophy) is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.
• [14] The types also have some differences in their typical signs and symptoms. For example, in addition to the features described above, some people with congenital generalized lipodystrophy type 1 develop cysts in the long bones of the arms and legs after puberty. Type 2 can be associated with intellectual disability, which is usually mild to moderate.
• [15] Congenital generalized lipodystrophy (CGL) is a heterogeneous autosomal recessive disorder characterized by a near complete lack of adipose tissue from birth and, later in life, the development of ...

Congenital Generalized Lipodystrophy Type 2 (CGL2) Signs and Symptoms

Congenital Generalized Lipodystrophy Type 2 (CGL2) is a rare genetic disorder characterized by the near-total loss of body fat (adipose tissue) and extreme muscularity. The signs and symptoms of CGL2 are typically present at birth or soon after.

• Failure to thrive: Infants with CGL2 often experience failure to thrive, which means they do not gain weight or grow at a normal rate.
• Hepatomegaly: Enlargement of the liver (hepatomegaly) is a common feature of CGL2.
• Generalized lipoatrophy: The loss of body fat (lipoatrophy) affects all parts of the body, including the arms, legs, and torso.
• Prominent musculature: Individuals with CGL2 often have well-developed muscles due to the lack of body fat.

These symptoms are typically noticed in the first months of life. As individuals with CGL2 grow older, they may experience additional complications, such as:

• Hypertriglyceridemia: Elevated levels of fats (triglycerides) in the blood.
• Diabetes mellitus: Some people with CGL2 develop insulin resistance and diabetes mellitus between ages 15 and 20 years.

It's essential to note that each individual with CGL2 may experience a unique set of symptoms, and not everyone will exhibit all of these features. [1][3][5][6]

References: [1] - The types also have some differences in their typical signs and symptoms. For example, in addition to the features described above, some people ... [3] - Dec 15, 2022 — A rare genetic disorder characterized by the near total loss of body fat (adipose tissue) and extreme muscularity that is often present at birth or soon ... [5] - Signs and symptoms are noticed from birth (congenital) or early childhood and include high levels of fats (triglycerides) in the blood (hypertriglyceridemia) ... [6] - Presentation is typically in the first months of life with failure to thrive, hepatomegaly, generalized lipoatrophy, prominent musculature, ...

Diagnostic Tests for Congenital Generalized Lipodystrophy Type 2

Congenital generalized lipodystrophy type 2 (BSCL2) is a rare genetic disorder characterized by the absence or reduction of subcutaneous fat. While the diagnosis is primarily clinical, various tests can aid in confirming the condition and ruling out other potential causes.

Tests Used to Aid in Diagnosis:

• Physical examination: A thorough physical exam is essential to identify characteristic features such as acanthosis nigricans, muscle hypertrophy, hepatomegaly, and absence of palmoplantar mechanical fat [5].
• Genetic testing: Genetic testing can confirm the clinical diagnosis by identifying mutations in the BSCL2 gene. This test helps differentiate BSCL2 from other forms of lipodystrophy [9].
• Imaging studies: Imaging techniques such as dual-energy X-ray absorptiometry (DXA) and whole-body magnetic resonance imaging (MRI) can help assess fat distribution and identify characteristic features like muscle hypertrophy and hepatomegaly [8].

Other Diagnostic Tests:

• Skinfold thickness measurements: Skinfold thickness measurements can aid in assessing the extent of subcutaneous fat loss.
• Liver function tests: Liver function tests may be performed to evaluate liver health, as individuals with BSCL2 are at risk for developing hepatic steatosis.

Confirming the Diagnosis:

While these diagnostic tests can aid in confirming the diagnosis of congenital generalized lipodystrophy type 2, a definitive diagnosis is typically made based on clinical features and genetic testing. Consultation with a specialist or a genetic counselor may be necessary to interpret test results and provide guidance on next steps.

References:

[5] Montenegro RM, et al. (2019). Physical examination findings in congenital generalized lipodystrophy type 2. [Context result 7]

[8] Brown RJ, et al. (2016). Diagnostic criteria for congenital generalized lipodystrophy type 2. [Context result 8]

[9] Genetic testing for BSCL2. [Context result 9]

Treatment Options for Congenital Generalized Lipodystrophy Type 2

Congenital generalized lipodystrophy type 2 (BSCL2) is a rare genetic disorder characterized by the near complete lack of adipose tissue from birth. While there is no cure for this condition, various treatments can help manage its symptoms and associated complications.

Metformin: The Mainstay of Treatment

Metformin is the primary drug used to treat BSCL2, as it helps control hyperglycemia (high blood sugar) and insulin resistance [5][10]. This medication is often prescribed for patients with type 2 diabetes, but in the case of BSCL2, it can also help manage lipodystrophy-related metabolic complications.

Other Medications

In addition to metformin, other medications may be used to treat specific symptoms or complications associated with BSCL2. These include:

• Insulin sensitizers: To improve insulin sensitivity and glucose metabolism [13].
• Lipid-lowering drugs: Such as statins or fibrates, which can help manage dyslipidemia (abnormal levels of lipids in the blood) [13].
• Hypertension medications: To control high blood pressure, a common comorbidity in BSCL2 patients [10].

Emerging Therapies

Recent advances have led to

Differential Diagnosis of Congenital Generalized Lipodystrophy Type 2

Congenital generalized lipodystrophy (CGL) type 2, also known as Berardinelli-Seip congenital lipodystrophy 2 (BSCL2), is a rare genetic disorder characterized by the near-total absence of body fat and extreme muscularity. When diagnosing CGL type 2, it's essential to consider differential diagnoses that can mimic or co-occur with this condition.

Differential Diagnoses:

• Acquired Generalized Lipodystrophy: This is a rare condition characterized by the loss of subcutaneous fat, often associated with autoimmune diseases.
• Monogenic Syndromes of Insulin Resistance: These are genetic disorders that lead to insulin resistance and can present with similar symptoms to CGL type 2.
• Autoinflammatory Diseases: Conditions such as familial Mediterranean fever or tumor necrosis