Acquired partial lipodystrophy

Acquired Partial Lipodystrophy

Acquired Partial Lipodystrophy (APL), also known as Barraquer-Simons syndrome, is a rare disorder characterized by the progressive loss of subcutaneous fat from certain areas of the body. This condition typically begins in childhood or adolescence and primarily affects females. The loss of fat usually starts in the face and progresses to the upper body, sparing the lower body, which can lead to a striking appearance.

Pathophysiology

The exact cause of Acquired Partial Lipodystrophy is not fully understood, but it is believed to involve an autoimmune mechanism. In many cases, APL is associated with the presence of low complement levels, particularly a decrease in complement component C3. This suggests that the complement system, part of the immune system, may play a role in the pathogenesis of the disease.

Clinical Features

Patients with APL typically present with:

• Loss of subcutaneous fat: This begins in the face and progresses to the neck, arms, and upper trunk. The lower body is usually spared, leading to a disproportionate distribution of body fat.
• Metabolic complications: Some patients may develop insulin resistance, hypertriglyceridemia, and other metabolic abnormalities.
• Renal involvement: A significant number of patients with APL develop membranoproliferative glomerulonephritis, a type of kidney disease.

Diagnosis

The diagnosis of Acquired Partial Lipodystrophy is primarily clinical, based on the characteristic pattern of fat loss. Laboratory tests may reveal low levels of complement C3 and the presence of autoantibodies. A renal biopsy may be performed if kidney involvement is suspected.

Management

There is no cure for APL, and treatment is primarily supportive. Management strategies include:

• Metabolic control: Addressing insulin resistance and hyperlipidemia through diet, exercise, and medications.
• Renal protection: Monitoring and managing kidney function, potentially using immunosuppressive therapies if glomerulonephritis is present.
• Cosmetic concerns: Patients may seek cosmetic procedures to address the aesthetic impact of fat loss.

Prognosis

The prognosis for individuals with APL varies. While the condition itself is not life-threatening, associated complications such as renal disease can impact overall health. Regular monitoring and management of metabolic and renal issues are crucial.

Also see

• Lipodystrophy
• Membranoproliferative glomerulonephritis
• Autoimmune diseases
• Complement system