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Lipodystrophy

Lipodystrophies

Lipodystrophy is a disorder characterized by atrophy of adipose tissue. Lipodystrophy may be localized, partial, or total, depending on the location and degree of fat loss.


Presentation

Localized lipodystrophy is usually manifested in the form of isolated or multiple, indentations, particularly in the extremities of the body in childhood. Occasionally, these may disappear all on a sudden. But in some, the lesions may expand. In some cases, secondary pigmentation can be seen on the skin. This form of lipodystrophy is not associated with any underlying disease at the time of presentation. Some patients present with panatrophy of muscle and fat.

Acquired partial lipodystrophy has the onset in childhood usually before 16 years. This is followed by viral infections like measles. Progression of the disease occurs slowly over a period of months to years. One fourth of the patients will have severe fat loss before 13 years of age. Loss of adipose tissue extends from face, neck, and shoulders to upper trunk and abdomen. The lower parts like hips and legs are not usually affected. Metabolic abnormalities are not seen associated with this form. About 60% of the patients may have hepatomegaly.

Extraordinary lack of subcutaneous fat from birth is characteristic of congenital generalized lipodystrophy. Visceral organs are often enlarged and toddlers may have severe pharyngeal tonsils and adenoids. One of the earliest symptoms of this condition include well-defined musculature with prominent superficial veins. Patients may also present with dermatologic manifestations like eruptive xanthomas, hirsutism, and thick, curled scalp hair. Children with this condition may attain more than 90% of adult growth within 10 years.

HIV-associated lipodystrophy is a progressive disease and the severity of symptoms is usually related to age, duration of disease and the duration of use of protease inhibitors or nucleoside reverse transcriptase inhibitors for treatment. It is characterized by an increase in the circumference of the neck, abdominal visceral fat accumulation, and symmetric and asymmetric lipomatoses.

Infertility
  • Some patients may display the features of polycystic ovary syndrome such as hirsutism, oligomenorrhea, polycystic ovaries and infertility. All patients are typically predisposed to early cardiovascular diseases.[orpha.net]
  • Female patients often become hirsute and may have clitoromegaly, irregular periods, polycystic ovaries, and infertility issues. Other less common clinical features may include mild cognitive deficits and hypertrophic cardiomyopathy.[clinicaladvisor.com]
  • Seipin knockout rats have reduced brain weight and infertility with azoospermia [ 17 ]. Some studies have linked seipin defects with motor neuron disease [ 18 ].[dmsjournal.biomedcentral.com]
Accelerated Growth
  • These children usually have a fierce appetite and accelerated growth. In late childhood, acanthosis nigrans develops on large areas of skin.[clinicaladvisor.com]
  • During childhood, affected individuals are described as being voracious eaters and may experience accelerated growth. Affected individuals may also experience fatigue.[rarediseases.org]
Splenomegaly
  • (See Atlas 2, Part F.) congenital generalized lipodystrophy an autosomal recessive condition marked by the virtual absence of subcutaneous adipose tissue, large body size, splenomegaly, hirsutism, acanthosis nigricans, and reduced glucose tolerance in[medical-dictionary.thefreedictionary.com]
Overeating
  • This was associated with concerns over appearance, difficulties with mobility and finding clothing. He successfully underwent bilateral lower leg liposuction and has had no recurrence of his symptoms after 12 months.[ncbi.nlm.nih.gov]
  • On this day, patient organizations from countries and regions all over the world will hold awareness-raising activities.[prnewswire.com]
  • METHODS: Eight LD patients (six female, two male; six familial partial LD [FPLD], two generalized LD) were treated with metreleptin over 1 year.[ncbi.nlm.nih.gov]
  • METHODS: Intermittent treatment with leptin with follow-up over 5 years. RESULTS: Pretreatment metabolic abnormalities included insulin resistance, hypertriglyceridemia and steatohepatitis. Leptin was started at the age of 10 years.[ncbi.nlm.nih.gov]
  • Moreover, circulating chemerin was assessed at five different time points in 10 LD patients treated with metreleptin over 1 year.[ncbi.nlm.nih.gov]
Increased Appetite
  • Increase In Appetite In CGL, AGL, and FPL, many patients have markedly increased appetites (Hyperphagia – Pages 110 & 114).[lipodystrophyunited.org]
  • .), low body fat would explain the increased appetite commonly seen in these patients. Quite often, parents complain about the difficulty of controlling the appetite of their children.[dmsjournal.biomedcentral.com]
Abdominal Distension
  • Acromegaloid facies, prognathism, atrophic cheeks, abdominal distension (female) Fig. 2 a Abdominal distension (hepatomegaly), umbilical protrusion, and phlebomegaly b in two patients with Berardinelli-Seip syndrome Laboratory investigations Biochemistry[dmsjournal.biomedcentral.com]
Hypertension
  • Although BSCL is recessive, heterozygous carriers either show a reduced phenotype of partial lipodystrophy, pulmonary hypertension, or no phenotype.[ncbi.nlm.nih.gov]
  • We report a case of secondary membranous lipodystrophy associated with both hypertension and venous insufficiency.[ncbi.nlm.nih.gov]
  • In addition to known metabolic comorbidities; chronic pain (78·3%), hypertension (56·5%) and mood disorders (52·2%) were highly prevalent. Mean NAFLD Activity Score (NAS) was 5 1 and 78·3% had fibrosis.[ncbi.nlm.nih.gov]
  • Metabolic abnormalities including insulin resistance, high blood pressure (hypertension), and severe hypertriglyceridemia have also been reported. This form of FPL has only been reported in women.[rarediseases.org]
  • Hypertension presents next, although this is more variable. Finally, fasting hyperglycemia—frank diabetes—occurs many years later and most likely reflects pancreatic β-cell failure in the context of chronic insulin resistance.[circ.ahajournals.org]
Hepatomegaly
  • Severe dyslipideaemia, hepatomegaly and non-alcoholic steatoheaptitis are almost always noted.[dnatesting.uchicago.edu]
  • An enlarged liver (hepatomegaly) is also common. Hepatomegaly is caused by the accumulation of fat in the liver (fatty liver or steatosis).[rarediseases.org]
  • […] and buttocks. total lipodystrophy an autosomal recessive disorder occurring mainly in females, characterized by a generalized loss of subcutaneous fat and extracutaneous adipose tissue, present at birth or appearing later in life, and associated with hepatomegaly[medical-dictionary.thefreedictionary.com]
  • These patients often present with low height and weight, developmental delays, enlarged livers (hepatomegaly) and often have chronic anemia, elevated liver enzymes and elevated acute phase reactants on lab tests.[autoinflammatory.org]
  • Abnormal enlargement of liver (hepatomegaly) has been reported in some cases. Most forms of lipodystrophy are associated with metabolic complications due to insulin resistance.[rarediseases.org]
Hepatosplenomegaly
  • The babies may have an umbilical protrudence or hernia and hepatosplenomegaly. A few patients develop diabetes in infancy, but most become diabetic during adolescence or later. These children usually have a fierce appetite and accelerated growth.[clinicaladvisor.com]
  • Affected subjects have extreme paucity of adipose tissue from birth, leading to a muscular appearance with prominent veins and an acromegaloid appearance, along with severe acanthosis nigricans, hepatosplenomegaly, and early onset of diabetes, hypertriglyceridemia[mayoclinic.org]
  • Berardinelli-Seip congenital lipodystrophy (BSCL) is clinically characterized by hepatosplenomegaly, fatty liver, altered carbohydrate metabolism, severe insulin resistance, hyperinsulinemia, acromegaloid habitus, and dyslipidemia.[dmsjournal.biomedcentral.com]
  • […] function. 2 Patients with this syndrome have plasma triglyceride levels ranging from 10 to 100 times the normal value (1500 to 15,000 mg per deciliter [17 to 170 mmol per liter]), eruptive xanthomas, arthralgias, neurologic symptoms, lipemia retinalis, and hepatosplenomegaly[doi.org]
Advanced Bone Age
  • Advanced bone age and linear growth and skeletal muscle prominence can be seen during childhood. Severe dyslipideaemia, hepatomegaly and non-alcoholic steatoheaptitis are almost always noted.[dnatesting.uchicago.edu]
  • bone age, acanthosis nigricans and hirsutism. lip·o·dys·tro·phy ( lip'ō-dis'trō-fē ), 1.[medical-dictionary.thefreedictionary.com]
Large Hand
  • Adults may have large hands and feet and a strong, square jawbone if their hormone balance is off and they've kept growing. They could have larger than usual sex organs (clitoris and ovaries, penis and testicles).[webmd.com]
Hirsutism
  • (See Atlas 2, Part F.) congenital generalized lipodystrophy an autosomal recessive condition marked by the virtual absence of subcutaneous adipose tissue, large body size, splenomegaly, hirsutism, acanthosis nigricans, and reduced glucose tolerance in[medical-dictionary.thefreedictionary.com]
  • Diabetes, hypertriglyceridemia, hypertension, fatty liver, pancreatitis, and hirsutism have also been reported. Metabolic abnormalities are more prominent than the lipodystrophy in this form of the disorder.[rarediseases.org]
  • A quarter of affected women have hirsutism and irregular periods, possibly reflecting polycystic ovarian syndrome. The acquired lipodystrophies are mainly autoimmune in origin and display complement abnormalities.[clinicaladvisor.com]
  • Some patients may display the features of polycystic ovary syndrome such as hirsutism, oligomenorrhea, polycystic ovaries and infertility. All patients are typically predisposed to early cardiovascular diseases.[orpha.net]
  • In rare cases, in which insulin resistance does develop, associated symptoms can include glucose intolerance, hypertriglyceridemia, hirsutism, and diabetes.[rarediseases.org]
Subcutaneous Nodule
  • Acquired (AGL, APL): Panniculitis variety (type 1):The patient presents with painful and inflamed subcutaneous nodules or maculopapular lesions. Upon healing, depressed scars remain but the overlying skin is normal.[lipodystrophyunited.org]
  • nodules Comments: This 38 year old man developed recurrent subcutaneous nodules on the trunk and proximal extremities, accompanied by fever and malaise.[web.archive.org]
  • Lupus erythematosus panniculitis is a rare disease characterized by deep subcutaneous nodules, most commonly localized on the upper limbs and face.[sclero.org]
  • Lipodystrophy in panniculitis-associated AGL is preceded by the development of painful subcutaneous nodules or lesions consisting of small spots or bumps (maculopapular lesions).[rarediseases.org]
Absence of Subcutaneous Fat
  • […] lipodystrophy [ lip″o-dis tro-fe ] 1. any disturbance of fat metabolism. 2. a group of conditions due to defective metabolism of fat, resulting in absence of subcutaneous fat; they may be congenital or acquired and partial or total.[medical-dictionary.thefreedictionary.com]
  • […] of subcutaneous fat.[care.diabetesjournals.org]
  • FPLD2 (Dunnigan variety; i and ii) typically presents with the same signature phenotype with absence of subcutaneous fat in the extremities, hips, and abdomen (flanks), along with a hypertrophy in the neck, axillae, and mons pubis.[doi.org]
Hypertrichosis
  • […] emaciation and progressing downward, giving an apparent and possibly real accumulation of fat about the thighs and buttocks. total lipodystrophy a recessive condition marked by the virtual absence of subcutaneous adipose tissue, macrosomia, visceromegaly, hypertrichosis[medical-dictionary.thefreedictionary.com]
  • It results in gigantism ( acromegaly ), enlarged liver and kidneys, pancreatitis, acanthosis nigricans and increased body hair (hypertrichosis) as well as generalised loss of body fat.[dermnetnz.org]
  • It results in gigantism ( acromegaly ), enlarged liver and kidneys, pancreatitis , acanthosis nigricans and increased body hair (hypertrichosis) as well as generalised loss of body fat.[dermnetnz.org]
Xanthoma
  • Patients may also present with dermatologic manifestations like eruptive xanthomas, hirsutism, and thick, curled scalp hair. Children with this condition may attain more than 90% of adult growth within 10 years.[symptoma.com]
  • Eruptive xanthomas are not frequent. In the literature, there are several reports of umbilical hernia in patients with BSCL [ 12 , 22 ].[dmsjournal.biomedcentral.com]
  • […] mutations in genes encoding other proteins necessary for LPL function. 2 Patients with this syndrome have plasma triglyceride levels ranging from 10 to 100 times the normal value (1500 to 15,000 mg per deciliter [17 to 170 mmol per liter]), eruptive xanthomas[doi.org]
Hunger
  • Behavioral tests demonstrated that perceived hunger, importance of eating, eating frequencies, and liking ratings of food pictures significantly decreased during metreleptin therapy.[ncbi.nlm.nih.gov]
  • So increasing leptin levels should halt hunger– but it wasn’t so simple. Injections of leptin helped only the handful of people who can’t make the hormone.[blogs.plos.org]
  • Tell your doctor right away if you experience shakiness, sweating, headache, drowsiness, weakness, dizziness, confusion, irritability, hunger, fast heartbeat, or a jittery feeling because these may be signs of low blood sugar (hypoglycemia).[myalept.com]
Clitoromegaly
  • Female patients often become hirsute and may have clitoromegaly, irregular periods, polycystic ovaries, and infertility issues. Other less common clinical features may include mild cognitive deficits and hypertrophic cardiomyopathy.[clinicaladvisor.com]
Kidney Failure
  • Depending on which type of lipodystrophy a person has, it may cause other problems, including diabetes , high cholesterol and triglycerides , liver disease, and kidney failure. Doctors can help you manage these complications.[webmd.com]

Workup

Diagnosis of this disease is mainly based on clinical features. Laboratory studies are used to check for associated conditions like metabolic disorders, and autoimmune diseases. In many cases histopathological studies are the confirmatory diagnostic test. Histology depends on the type of lipodystrophy. The two main histopathological subsets are involutional type and inflammatory type. In involutional type small lipocytes are seen embedded in hyaline connective tissue, lobular accentuation in the periphery, and scarcity of inflammatory cells. In inflammatory type, normal lipocytes and vasculature are present. Focal lymphocytes, histiocytes and plasma cells are scattered. These forms are more commonly seen in localized lipodystrophy.

To rule out associated disorders, tests including fasting blood glucose and lipid profile, creatinine, and urinalysis may be useful. Tests may also be conducted for antinuclear antibodies, and anticardiolipin antibodies. For familial form of lipodystrophy, genetic workup may be needed. In progressive lipodystrophy, immunofluorescence studies may be helpful.

Enlargement of the Liver
  • There may be abnormal breakdown of fats with loss of weight, excessive levels of fats in the blood, raised blood sugar levels, enlargement of the liver and abnormal thyroid gland function.[medical-dictionary.thefreedictionary.com]
  • These patients often present with low height and weight, developmental delays, enlarged livers (hepatomegaly) and often have chronic anemia, elevated liver enzymes and elevated acute phase reactants on lab tests.[autoinflammatory.org]
  • This condition results in enlargement of the liver and kidneys.[epainassist.com]
  • Abnormal enlargement of liver (hepatomegaly) has been reported in some cases. Most forms of lipodystrophy are associated with metabolic complications due to insulin resistance.[rarediseases.org]
Hypertriglyceridemia
  • However, the role of apoCIII in hypertriglyceridemia in lipodystrophy and the effects of leptin replacement on apoCIII levels are unknown.[ncbi.nlm.nih.gov]
  • Lipodystrophy disorders are characterized by selective loss of fat tissue with metabolic complications including insulin resistance, hypertriglyceridemia, and nonalcoholic liver disease.[ncbi.nlm.nih.gov]
  • The metabolic abnormalities associated with lipodystrophy include insulin resistance, hypertriglyceridemia, and hepatic steatosis. Management focuses on preventing and treating metabolic complications. Published by Elsevier Inc.[ncbi.nlm.nih.gov]
  • Hypertriglyceridemia was noted in a significant proportion of both ART-naïve (43.5%) and ART-experienced children (39.7%).[ncbi.nlm.nih.gov]
  • RESULTS: Lipodystrophy is a very rare disease characterized by pathologic alterations in the distribution of adipose tissues in association with a diverse range of metabolic derangements such as hypertriglyceridemia, insulin resistance, diabetes, and[ncbi.nlm.nih.gov]

Treatment

Just like the different types of the disease, the treatment options are also varied. Efficacy of the treatment modality also depends on the type of the disease and the clinical features in an individual. Generally, any treatment strategy focus on alleviating the metabolic and pathologic changes in the distribution of fat. A general approach includes lifestyle modification like diet, exercise, and nutritional therapy. Patients with this disease are recommended to have less than 30% of daily calories from fat. About 60-70% of the calories should be provided by monounsaturated fat and carbohydrates. Exercise may be helpful in improving the metabolic parameters. Resistance training is found to enhance total lean mass and to decrease total fat accumulation. Exercise is also helpful in increasing peripheral insulin sensitivity, and HDL cholesterol levels.

Patients with concurrent diabetes may be suggested metformin for managing associated condition. Thiazolidinediones also may be helpful in improving insulin resistance, hyperinsulinemia, and hypertriglyceridemia. Treatment guidelines for dyslipidemia in lipodystrophy is similar to that of coronary artery disease. Lifestyle modification is the first step in this regard. Statins are given for hypercholesterolemia. Fibrates and extended release niacin may be used for controlling hypertriglyceridemia. Ezetimibe inhibitors may be opted for patients who cannot tolerate statins.

Prognosis

Mortality and morbidity associated with the disease depends on the organ involved and the extent of involvement. If no other organ systems are involved, prognosis of lipodystrophy is good. Most of the patients will have a normal life expectancy without many disabilities. Even a progressive form of the disease like acquired partial lipodystrophy has a good prognosis if associated complications like renal impairment and insulin resistance are absent. In congenital forms most of the patients survive to young adulthood or early middle age.

Etiology

Most forms of localized lipodystrophy have idiopathic etiology. Occasionally it is seen associated with subcutaneous and intradermal injections. Trauma at the site of injection is implicated in the release of cytokines that enhance catabolism of fat. Contamination of animal insulin is also found to cause localized lipodystrophy by cross reaction with lipid tissues and insulin antibody. This form of lipid dystrophy is very rare compared to other forms [4]. Similarly, no special etiology is known for partial dystrophy also. There are reports of progressive partial lipodystrophy being associated with a history of viral or bacterial infection.

Inherited forms of lipodystrophy are caused by mutations. Congenital generalized lipodystrophy (CGL), characterized by total absence of adipose tissue, is caused by an autosomal recessive mutation. There are four subtypes of CGL, caused by compound mutations in four genes, 1-acylglycerol-3-phosphate-O-acyltransferase (AGPAT2), Berardinelli-Seip congenital lipodystrophy 2 (BSCL2), caveolin 1 (CAV1), and polymerase I and transcript release factor (PTRF).

Epidemiology

The incidence and prevalence of many forms of lipodystrophy are not known. Both acquired and inherited forms of this disease are rare. Localized lipodystrophies, including the cases secondary to injections are rare. Few of them are reported in literature. Information on racial association of the disease is lacking. In general, females are found to be more affected than males in case of localized lipodystrophy. Onset of this form usually occurs within 10 to 20 years of age, and may be present from infancy to adulthood.

Acquired partial lipodystrophy is more common than generalized form of the disease. A total of 250 cases have been reported in United States [5]. As in the case of localized lipodystrophy, no specific association has been reported between race and occurrence of acquired lipodystrophy. The prevalence is found to be four times more among women when compared to men. The median age of onset for acquired partial lipodystrophy is around 7 years, and occasionally it is also noted in 40 to 50 years. The clinical manifestations are found to start at a later stage in women when compared to men. The estimated prevalence of this form of inherited lipodystrophy is around 1 in 15 million persons.

Incidence of congenital lipodystrophy is found to be equal in male and female. Highest frequency of congenital generalized lipodystrophy is reported from Brazil [6]. Congenital generalized lipodystrophy is a rare autosomal recessive disorder and around 250 cases are reported world over in literature. No difference has been reported in the frequency of this disorder in different parts of the world [7].

Sex distribution
Age distribution

Pathophysiology

Congenital generalized lipodystrophy is classified into type 1 to 4, depending on the clinical manifestations and the etiological mutations. Type 1 (CGL1) is caused by a mutation of 1-acylglycerol-3-phosphate-O-acyltransferase 2 gene (AGPAT2). AGPAT2 gene plays an important role in functioning of adipocyte tissue and also in the synthesis of triacylglycerol in adipose tissue [8]. Mutation of this gene affects the metabolically important tissue like the fat tissue in subcutaneous region, bone marrow, intramuscular, intraabdominal and intrathoracic regions. Type 2 (CGL2) occurs due to mutations of Berardinelli-Seip Congenital Lipodystrophy 2 gene (BSCL2). BSCL2 gene is involved in the coding of the protein seipen, which is implicated in the differentiation of adipose tissue and lipid droplet formation [9]. Caveolin 1 (CAV1) mutations, and Polymerase I and transcript release factor (PTRF) mutations are associated with CGL3, and CGL4, respectively.

Many genetic mutations have been implicated in the development of inherited partial lipodystrophy. The most prevalent form is familial partial lipodystrophy type 2 and is caused by a mutation in the gene LMNA [10]. HAART-associated lipodystrophy syndrome is a side-effect of HAART. Lipodystrophy may be caused by nucleoside reverse transcriptase inhibitors. It may result in abnormal proliferation of mitochondria, known as mitochondrial toxicity [10]. Protease inhibitors are also implicated in the disruption of adipocyte differentiation and also in increased production of cytokines. Drug-induced lipodystrophy may also include increased lipolysis. Enhanced lipolysis along with deficiency of subcutaneous fat, indirectly lead to metabolic disturbances like insulin resistance and dyslipidemia.

Prevention

No known method of prevention exist for lipodystrophy. In most of the cases controlling the underlying condition would go a long way in preventing complications.

Summary

Lipodystrophy is a disorder characterized by atrophy of adipose tissue which may be localized, partial, or total, depending on the location and degree of fat loss [1]. Total lipodystrophy can be congenital with complete loss of fat tissue in the body and is often associated with metabolic abnormalities like insulin resistance, hyperlipidemia, and hyperglycemia. Partial lipodystrophy is manifested by loss of adipose tissue, particularly from face. Similar atrophy may not be present in other parts of the body. Localized lipodystrophy is manifested by localized loss of fat tissue.

Complications of lipodystrophy are often associated with the extent of loss of adipose tissue [2]. Loss of adipose tissue occurs from the subcutaneous region and sometimes from visceral region [3]. Lipodystrophy disorders result in fat redistribution, including lipohypertrophy and lipoatrophy. These disorders may lead to cosmetic problems in some, while in others it may even lead to severe metabolic complications. Lipodystrophy may be inherited or secondary to other illnesses, called as acquired lipodystrophy.

Patient Information

Lipodystrophy refers to a heterogeneous group of disorders that result in fat loss. As more and more of fat is lost from the body, other organs and structures underneath the skin become more defined and fat loss may be noted as depressions on the skin. Lipodystrophy may be categorized as congenital or acquired. It may also be divided as generalized, where fat loss occurs all over the body, and partial where fat loss occurs only in some parts of the body. Loss of fat leads to metabolic complications, the severity of which depends on the extent of loss.

Location of fat loss may vary from one person to another. Some patients may have very thin face and arms, while others may have very less fat on the lower areas of the body like legs and buttocks. Some others may have very little fat and appear muscular. In most of these patients, fat may be present in unusual places like kidney, blood, heart, liver and pancreas. This may lead to serious problems like insulin resistance, high cholesterol, diabetes mellitus, fatty liver disease and heart disease.

Clinical features with a family history of lipodystrophy and associated conditions are often used in diagnosis of the disease. Associated conditions may include diabetes mellitus, high levels of triglycerides or cholesterol, fatty liver, dark, velvety patches of skin and polycystic ovary syndrome. Treatment strategy include alleviating the disturbances due to changes in fat distribution. Lifestyle modifications with diet, nutrition therapy and exercise are important steps in the treatment of the condition. Medications are given for controlling diabetes mellitus, high levels of cholesterol and triglycerides. If no organs are involved in the disease, lipodystrophy has a good prognosis.

References

Article

  1. Nolis T. Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies. J Hum Genet. 2014;59(1):16-23.
  2. Garg A. Clinical review: Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011;96(11):3313-3325.
  3. Herranz P, de Lucas R, Perez-España L, Mayor M. Lipodystrophy syndromes. Dermatol Clin. 2008; 26(4):569-578.
  4. Peteiro-Gonzalez D, Fernandez-Rodriguez B, Cabezas-Agricola JM, Araujo-Vilar D. Severe localized lipoatrophy related to therapy with insulin analogs in type 1a diabetes mellitus. Diabetes Res Clin Pract. 2011;91(3):e61-e63.
  5. Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore). 2004; 83(1):18-34.
  6. Gomes KB, Fernandes AP, Ferreira AC, et al. Mutations in the Seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. J Clin Endocrinol Metab. 2004;89(1):357–361.
  7. Garg A, Misra A. Lipodystrophies: rare disorders causing metabolic syndrome. Endocrinol Metab Clin North Am. 2004;33(2):305–331.
  8. Agarwal AK, Arioglu E, De Almeida S, et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet. 2002;31(1):21–23.
  9. Boutet E, El Mourabit H, Prot M, et al. Seipin deficiency alters fatty acid Delta 9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. Biochimie. 2009;91(6):796–803.
  10. Divi RL, Haverkos KJ, Humsi JA, et al. Morphological and molecular course of mitochondrial pathology in cultured human cells exposed long-term to zidovudine. Environ Mol Mutagen. 2007;48(3-4):179–189.

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Last updated: 2018-06-22 12:10