Barraquer-Simons syndrome

Other Names: APL; Lipodystrophy partial acquired; Lipodystrophy cephalothoracic type; Lipodystophy partial progressive Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. It affects females more often than males. The fat loss usually has a 18 month course, but can come and go over the course of several years.

Onset

Onset usually begins in childhood following a viral illness.

Cause

The etiology of this condition has not been fully elucidated. Lipodystrophy is often associated with glomerulonephritis, low C3 serum complement levels, and the presence of a C3 nephritic factor. C3 nephritic factor is a serum immunoglobulin G that interacts with the C3bBb alternative pathway convertase to activate C3. C3 nephritic factor induces the lysis of adipocytes that secrete adipsin, a product identical to complement factor D. The distribution of the lipoatrophy is postulated to be dictated by the variable amounts of adipsin secreted by the adipocytes at different locations.

Human PTRF mutations may cause secondary deficiency of caveolins, resulting in generalized lipodystrophy in association with in muscular dystrophy. Complement dysfunction may predispose some patients to bacterial infections.

Signs and symptoms

Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis. This kidney condition usually develops more than 10 years after the lipodystrophy's onset. Autoimmune disorders may also occur in association with this syndrome.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Lipoatrophy(Loss of fat tissue in localized area)

30%-79% of people have these symptoms

• Autoimmunity(Autoimmune disease)
• Decreased serum complement C3
• Hearing impairment(Deafness)
• Intellectual disability(Mental deficiency)
• Lymphocytosis(High lymphocyte count)
• Myopathy(Muscle tissue disease)
• Progeroid facial appearance(Premature aged appearance)
• Seizure

5%-29% of people have these symptoms

• Arthralgia(Joint pain)
• Generalized hirsutism(Excessive hairiness over body)
• Glomerulopathy
• Hepatic steatosis(Fatty infiltration of liver)
• Immunodeficiency(Decreased immune function)
• Insulin resistance(Body fails to respond to insulin)
• Microscopic hematuria(Small amount of blood in urine)
• Proteinuria(High urine protein levels)

Diagnosis

Every patient should have a fasting blood glucose and lipid profile, creatinine evaluation, and urinalysis for protein content at the first visit, after which he/she should have these tests on a regular basis.

• Although uncommon, lipid abnormalities can occur in the form of raised triglyceride levels and low high-density lipoprotein cholesterol levels.
• Patients usually have decreased serum C3 levels, normal levels of C1 and C4, and high levels of C3NeF (autoantibody), which may indicate the presence of renal involvement.
• Antinuclear antibodies (ANA) and antidouble-stranded deoxyribonucleic acid (DNA) antibodies have reportedly been observed in some patients with acquired partial lipodystrophy.
• A genetic workup should be performed if the familial form of lipodystrophy is suggested.

Laboratory work for associated diseases includes: Metabolic disease - fasting glucose, glucose tolerance test, lipid profile, and fasting insulin to characterize the insulin resistance state; free testosterone (in women) to look for polycystic ovary syndrome. Autoimmune disease - ANA, antidouble-stranded DNA, rheumatoid factor, thyroid antibodies, C3, and C3NeF. As a confirmatory test, whole-body MRI usually clearly demonstrates the extent of lipodystrophy. MRI is not recommended on a routine basis.

Treatment

• Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or other techniques.

• No specific diet is recommended for people with Barraquer-Simons syndrome and weight gain should be avoided. Regular exercise is recommended to improve a person's metabolic status.

• If a person with Barraquer-Simons syndrome has kidney problems, then they may also need to be managed. Treatment may involving a special diet or medications. Dialysis or a kidney transplant may be needed if the condition progresses to kidney failure.

Prognosis

Barraquer-Simons syndrome is a disease that progresses slowly. It causes a loss of fat tissue in the face, which can affect facial features. About 20 percent of people develop a type of kidney disease called membranoproliferative glomerulonephritis, which can cause serious complications. Rarely, Barraquer-Simons syndrome can cause insulin resistance.

NIH genetic and rare disease info

• NIH info on Barraquer-Simons syndrome

Barraquer-Simons syndrome is a rare disease.

Barraquer-Simons syndrome Resources
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