Lipodystrophy & Lipoatrophy

Complex group of diseases characterized bu an increase or loss, partial or total, acquired or familial, of adipose tissue
Adipose tissue hypertrophy can be:
  • Total, diffuse and symmetrical (as in common obesity)
  • partial or localized, sometimes with an ethnic connotation (steatopygia in some African women)
 
  • Lipoatrophy
    • Localized
      • Loss of subcutaneous fat
      • Usually due to previous inflammation
      • May also be seen in areas of pressure (socks)
    • Regional and generalized forms → assciated with lipodystrophy syndromes
  • Lipodystrophy
    • Alteração generalizada ou regional da distribuição da gordura, com lipoatrofia e lipohipertrofia
      • “Though the terms lipodystrophy and lipoatrophy are often used interchangeably, lipoatrophy should be used specifically for selective loss of fat, with lipodystrophy implying a redistribution of fat, in part due to a hypertrophic compensation of the non-atrophic fat” - Bolognia
    • Abnormal deposition of fat (lipedema)
    • Acquired
    • Congenital or Familial
 
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Familial Lipodystrophy
  • Generalidades
    • Meet specific diagnostic criteria
    • Some can be treated with recombinant human leptin (metreleptin)
  • Generalized lipodystrophy (Berandinelli-Seip)
    • AR
    • Complete absence of subcutaneous fat
    • Cachetic facies, muscular habitus, huge appetite, acanthosis nigricans, hypertrhichosis, hyperhidrosis, heat intolerance
    • Other findings: metabolic syndrome, nphropathy, hypertrophic cardiomyopathy, organomegally, pancreatitis secondary to hypertriglyceridemia, mental retardation in some
    • Hyperinsulinemia, insulin resistance, hypertriglyceridemia (nowhere for the fat to go, nowhere for the insulin to act on)
  • Partial Lipodystrophy (Dunnigan variant)
    • Laminin A/C gene
    • Normal at birth, symptoms begin at puberty
  • Partial Lipodystrophy (Kobberling variant)
    • AD
    • Onset: puberty
    • Very rare, females
    • Loss of fat in extremities, with possible spread to the trunk, but sparing the face
    • Increased fat: face and neck
    • Other clinical features: muscular hypertrophy, double chin, round face
    • Other findings: metabolic syndrome, fatty liver disease, pancreatitis, hypertrophic cardiomyopathy, mandibuloacral dyusplasia in some (mandibular/clavicular hypopplasia, disorders of ectoderm)
    • Associated with early cardiovascular disease and pancreatitis
 
Acquired Lipodystrophy
  • HIV-associated lipodystrophy
    • Associated with protease inhibitors
    • Redistribution of adipose tissue
    • Peripheral lipoatrophy, particularly in the face, contrasting with central lipohypertrophy
  • Steroid induced lipodystrophy
    • In Cushing or iatrogenic hypercortisolism
    • Lipodematous infiltration of the neck and shoulders
  • Macrolipodystrophy
    • Rare congenital hypertrophy of a limb or limb segment associated with fatty infiltration
  • “Cellulite”
    • Gynoid lipodystrophy of the hips, buttocks and thighs, manifested by an “orange peel” appearance
  • Generalized lipodystrophy (Lawrence syndrome)
    • Mostly females, begins in childhood
    • Associated with autoimmune disease (dermatomyositis, Hashimoto’s thyroiditis, Juvenile Idiopathic Arthritis, SLE, Sjogren’s, Vitiligo, Systemic sclerosis) and preceding viral illnesses
  • Partial Lipodystrophy (Barraquer-Simons syndrome)
    • Mostly females, childhood or adolescence
    • Gradual loss of the subcutaneous fat of the face, followed by neck, shoulders, arms, thorax and upper abdomen
    • Associated with complement deficiency, membranoproliferative GN and autoimmune disease (Sjogren’s, SLE, thyroid disease, dermatomyositis)