Barraquer-Simons syndrome
Encyclopedia
Barraquer–Simons syndrome (or acquired partial lipodystrophy, and "Cephalothoracic lipodystrophy," "Progressive lipodystrophy") is a rare form of lipodystrophy
,
which usually first affects the head, and then spreads to the thorax.
It is named for Luis Barraquer Roviralta and Arthur Simons.
There is some evidence tying it to LMNB2.
(metabolic, autoimmune, and renal diseases). 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 (HDL) 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 anti-double-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. Renal biopsy
is the test of choice to
help diagnose the type of renal impairment in these patients. A transcutaneous procedure performed under
ultrasonographic guidance, it is used to obtain renal tissue using a fine needle. Nephrologists should direct
this procedure. Under light microscopy, biopsy specimens of affected areas show a loss of subcutaneous fat;
relative adipocyte volume is reduced to 65% of baseline. Lipocytes are usually atrophic or are reduced in
number. No infiltrates with lymphocytes have been reported.
status of the fetus should be ascertained with modalities such as an electronic fetal monitor. Fetal health
assessment is particularly important during the third trimester to reduce the risk of intrauterine fetal death
associated with progressive lipodystrophy. Renal status Patients should be monitored regularly for evidence of
glomerulonephritis. Glomerulonephritis can develop more than 10 years after the onset of progressive
lipodystrophy. Autoimmune disorders Patients should be monitored for the development of systemic lupus
erythematosus because it was reported in a few patients 2–28 years after the onset of progressive lipodystrophy.
Other autoimmune disorders have also been associated with this disease.
extremities and in some cases also the trunk with early puberty, which produces a muscular appearance with
prominent superficial veins. This is followed by increased fat in the face and neck as puberty is completed. The
visceral fat and interfascicular intramuscular fat depots are preserved. The Kobberling subtype, sometimes
referred to as FPLD1, is characterized by loss of subcutaneous adipose tissue from the extremities only, whereas
Dunnigan syndrome, or FPLD2, is characterized by loss of fat from the extremities and trunk.
While the disease affects both sexes, the phenotype is much easier to discern in females, leading to
ascertainment bias of female probands. Up to one third of affected women may develop acanthosis nigricans,
hirsutism, menstrual irregularities, and polycystic ovaries. Overall, female patients develop diabetes and
dyslipidemia earlier and more severely. For example, from one case series, affected females develop diabetes
approximately 73% of the time and hypertriglyceridemia 90% of the time. In contrast, the incidence is 36% and
45%, respectively, in affected males. These observations are similar to the recently published observations of
another group.
receptor blocking drug Pimozide has not been effective. Diet therapy has been shown to be of some value in the
control of metabolic problems. The use of small, frequent feedings and partial substitution of medium-chain
triglycerides for polyunsaturated fats appears to be beneficial. Plastic surgery with implants of monolithic
silicon rubber for correction of the deficient soft tissue of the face has been shown to be effective. False
teeth may be useful in some cases for cosmetic reasons. Long-term treatment usually involves therapy for kidney
and endocrine dysfunction. If the patient has a genetic form of Lipodystrophy, genetic counseling will be of
benefit for patients and their families. Other treatment is symptomatic and supportive.
Lipodystrophy
Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, lipoatrophy is used when describing the loss of fat from one area...
,
which usually first affects the head, and then spreads to the thorax.
It is named for Luis Barraquer Roviralta and Arthur Simons.
There is some evidence tying it to LMNB2.
Diagnosis
The laboratory workup is needed primarily to investigate for the presence of associated disorders(metabolic, autoimmune, and renal diseases). 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 (HDL) 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 anti-double-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. Renal biopsy
Renal biopsy
A renal biopsy is a procedure in which a sample of kidney tissue is obtained. Microscopic examination of the tissue can provide information needed to diagnose, monitor or treat a renal disorder.-Indications:...
is the test of choice to
help diagnose the type of renal impairment in these patients. A transcutaneous procedure performed under
ultrasonographic guidance, it is used to obtain renal tissue using a fine needle. Nephrologists should direct
this procedure. Under light microscopy, biopsy specimens of affected areas show a loss of subcutaneous fat;
relative adipocyte volume is reduced to 65% of baseline. Lipocytes are usually atrophic or are reduced in
number. No infiltrates with lymphocytes have been reported.
Causes
Renal and immunologic disturbances may warrant inpatient care at times. During pregnancy, the healthstatus of the fetus should be ascertained with modalities such as an electronic fetal monitor. Fetal health
assessment is particularly important during the third trimester to reduce the risk of intrauterine fetal death
associated with progressive lipodystrophy. Renal status Patients should be monitored regularly for evidence of
glomerulonephritis. Glomerulonephritis can develop more than 10 years after the onset of progressive
lipodystrophy. Autoimmune disorders Patients should be monitored for the development of systemic lupus
erythematosus because it was reported in a few patients 2–28 years after the onset of progressive lipodystrophy.
Other autoimmune disorders have also been associated with this disease.
Symptoms
Patients are born with normal fat distribution but notice a loss of subcutaneous fat in theextremities and in some cases also the trunk with early puberty, which produces a muscular appearance with
prominent superficial veins. This is followed by increased fat in the face and neck as puberty is completed. The
visceral fat and interfascicular intramuscular fat depots are preserved. The Kobberling subtype, sometimes
referred to as FPLD1, is characterized by loss of subcutaneous adipose tissue from the extremities only, whereas
Dunnigan syndrome, or FPLD2, is characterized by loss of fat from the extremities and trunk.
While the disease affects both sexes, the phenotype is much easier to discern in females, leading to
ascertainment bias of female probands. Up to one third of affected women may develop acanthosis nigricans,
hirsutism, menstrual irregularities, and polycystic ovaries. Overall, female patients develop diabetes and
dyslipidemia earlier and more severely. For example, from one case series, affected females develop diabetes
approximately 73% of the time and hypertriglyceridemia 90% of the time. In contrast, the incidence is 36% and
45%, respectively, in affected males. These observations are similar to the recently published observations of
another group.
Treatment
There is no known specific drug treatment for the Lipodystrophies. Long-term use of the dopaminereceptor blocking drug Pimozide has not been effective. Diet therapy has been shown to be of some value in the
control of metabolic problems. The use of small, frequent feedings and partial substitution of medium-chain
triglycerides for polyunsaturated fats appears to be beneficial. Plastic surgery with implants of monolithic
silicon rubber for correction of the deficient soft tissue of the face has been shown to be effective. False
teeth may be useful in some cases for cosmetic reasons. Long-term treatment usually involves therapy for kidney
and endocrine dysfunction. If the patient has a genetic form of Lipodystrophy, genetic counseling will be of
benefit for patients and their families. Other treatment is symptomatic and supportive.