Barraquer Simons syndrome

Barraquer-Simons syndrome
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Synonyms	Acquired partial lipodystrophy
Pronounce	N/A
Specialty	N/A
Symptoms	Loss of subcutaneous fat, particularly in the face and upper body
Complications	Metabolic disorders, renal disease
Onset	Childhood or adolescence
Duration	Chronic
Types	N/A
Causes	Unknown, possibly autoimmune
Risks	N/A
Diagnosis	Clinical evaluation, imaging
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management, cosmetic surgery
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Barraquer-Simons syndrome, also known as acquired partial lipodystrophy, is a rare disorder characterized by the progressive loss of subcutaneous fat, primarily affecting the face and upper body. This condition is named after the Spanish physician Luis Barraquer Roviralta and the German physician Arthur Simons, who first described the syndrome in the early 20th century.

Clinical Presentation

The hallmark of Barraquer-Simons syndrome is the gradual loss of adipose tissue, which typically begins in childhood or adolescence. The fat loss usually starts in the face, leading to a hollowed appearance, and progresses to the neck, arms, and upper torso. The lower body is generally spared, and in some cases, there may be an accumulation of fat in the lower abdomen and legs.

Patients may also experience metabolic complications, such as insulin resistance, hypertriglyceridemia, and low levels of high-density lipoprotein (HDL) cholesterol. Renal involvement is common, with some individuals developing membranoproliferative glomerulonephritis, a type of kidney disease.

Etiology

The exact cause of Barraquer-Simons syndrome is unknown, but it is believed to have an autoimmune component. Some studies suggest a possible link to complement system abnormalities, particularly involving complement component 3 (C3). There is no known genetic mutation associated with the syndrome, and it typically occurs sporadically.

Diagnosis

Diagnosis of Barraquer-Simons syndrome is primarily clinical, based on the characteristic pattern of fat loss. Imaging studies, such as MRI or CT scans, can be used to assess the extent of adipose tissue loss. Laboratory tests may be conducted to evaluate metabolic and renal function, and to rule out other causes of lipodystrophy.

Management

There is no cure for Barraquer-Simons syndrome, and treatment is focused on managing symptoms and complications. Cosmetic surgery, such as fat grafting or dermal fillers, may be considered to address facial lipoatrophy. Metabolic complications are managed with lifestyle modifications and medications, such as insulin sensitizers or lipid-lowering agents.

Prognosis

The prognosis for individuals with Barraquer-Simons syndrome varies. While the condition is chronic and progressive, the rate of fat loss can differ among patients. Metabolic and renal complications can impact overall health and quality of life.

Also see

• Lipodystrophy
• Membranoproliferative glomerulonephritis
• Autoimmune disease
• Complement system