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30 Cards in this Set
- Front
- Back
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Which subtype of lipoatrophy/dystrophy is most commonly encountered?
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Acquired, localized forms
Medication injection (ILK) Traumatic Inflammatory disease – panniculitides |
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Name the disease:
Begins birth/childhood Very rare (1 in 12 million) Diffuse loss of body fat! Cadaveric facies (loss of Bichat’s fat pad in the preauricular region) Muscular-appearing habitus Spares “mechanical” sites – orbit, palmar/plantar, tongue, breast, vulva, buccal, epidural region |
Berardinelli-Seip Syndrome (AR)
aka Congenital Generalized Lipodystrophy (CGL) Syndrome |
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Pathogenesis of Berardinelli-Seip?
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Pathogenesis
GLUT4 defect Inability to store glucose in fat serum pro-insulin & C-peptide AR form According to OMIM, there are two genetic defects: Type 1 Berardinelli-Seip: AGPAT2 gene Type 2 Berardinelli-Seip: Seipin (BSCL2) gene Highly expressed in the brain & testes Likely role in hypothalamic-pituitary-gonadal axis |
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Pathogenesis of Lawrence (Lawrence-Seip) Syndrome
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Pathogenesis:
No genetic defects Autoimmune diseases ?immunologically mediated fat cell lysis Frequent antecedent viral, bacterial infections |
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Name the disease:
Lipoatrophy distribution Insulin-resistance, DM, lipid derangements Cutaneous: AN, mild hirsutism Main distinguishing features: Lipoatrophic changes develop later in childhood (before 15yo) Women > Men Preceeded by a systemic illness Infection, autoimmune, connective tissue disease Does not spare mechanical sites (palms/soles involved) Higher incidence of liver complications HSM, cirrhosis, variceal bleeds Renal, cardiac, CNS involvement unlikely |
Acquired Generalized Lipodystrophy (Lawrence-Seip Syndrome)
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Eponym for Familial Partial Lipodystrophy
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Köbberling-Dunnigan Syndrome (AD)
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Name the disease:
Normal childhood Progressive loss of SQ fat Starts in puberty Extremities predominantly Loss of SQ fat results in accentuation of veins appearance of muscular hypertrophy Face spared |
Köbberling-Dunnigan Syndrome (AD)
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Name the two variants of Kobberling-Dunnigan?
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Two variants --
Dunnigan: Compensatory fat accumulation in head/neck Round face with excess supraclavicular fat Acromegalic facies with double chin Köbberling: no fat accumulation of head/neck |
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Pathogenesis of the Dunnigan variety of Familial Partial Lipodystroph?
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AD
LMNA gene (chr 1) Encodes Lamin A and C Mutations --> abnormal leptin level --> insulin intolerance ( increased serum insulin & C-peptide) of note: None of the Kobberling patients have defects in LMNA |
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Eponym for Familial Partial Lipodystrophy
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Familial Partial Lipodystrophy –Mandibuloacral Dysplasia Variety
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Inheritance and gene involved with: Familial Partial Lipodystrophy –Mandibuloacral Dysplasia Variety
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AR
Clinical Mandibular + clavicular hypoplasia +acro-osteolysis Short stature High-pitched voice Ectodermal abnormalities (skin, teeth, hair, nails) Pathogenesis – genetic mutations LMNA gene Partial lipodystrophy ZMPSTE24 gene (Zinc metalloproteinase) Generalized lipodystrophy |
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Eponym for Acquired Partial Lipodystrophy
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Barraquer-Simons Syndrome
(Note: this is the M/C lipodystrophy outside of HIV-related and localized form) |
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Name the disease:
Cephalothoracic lipodystrophy Start on face/head --> cephalocaudad spread to the pelvic area Starts around childhood/puberty Follows viral illness Progressive & insidious (physical changes may be delayed up to 40yo) Women > men |
Barraquer-Simons Syndrome
(Note: this is the M/C lipodystrophy outside of HIV-related and localized form) |
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Describe the three phenotypic variants of Barraquer-Simons? What disease are associated with this condition?
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Three phenotypic variants
(1) loss of fat in upper body only (2) loss of fat in the upper body + hypertrophy of the lower body (3) Hemilipodystrophy – half of face/body affected Associated systemic disease (1/3 of pts) -- Mesangiocapillary glomerulonephritis II (MCGNII) with nephritic syndrome -- Low C3 -- (+) C3 nephritic factor (C3NeF) -- Complement dysfunction -- Autoimmunity – juvenile dermatomyositis, scleroderma, SLE, anemia, thyroid dysfunction |
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Pathogenesis of Barraquer-Simons?
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Pathogenesis
AD or sporadic Exact pathogenesis unknown Adipsin Produced by adipocytes Identical to factor: - Important in alternative complement pathway - Also distributed in the cephalothoracic part of the body C3 nephritic factor (C3NeF) IgG autoantibody against an alternative pathway enzyme Fat cells + C3NeF --> fat lysis |
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Identify the disease:
Cachectic facies: - Loss of buccal, parotid, preauricular fat pads - Zygomatic accentuation Peripheral fat loss – extremities, buttocks Fat redistribution Central obesity Buffalo hump |
HIV Protease Inhibitor-Associated Lipodystrophy
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What drug is most often associated with HIV Protease Inhibitor-Associated Lipodystrophy
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MC associated with indinavir
- Onset at 2-21 months after starting therapy (mean 10) - Prevalence 50 %, if taking meds for 12-18 months - Combining PIs --> worse disease |
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What is the most common associated systemic disturbance seen in PI assoc lipodystrophy?
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Associated systemic disturbances:
- Metabolic – increased TG/cholesterol, insulin resistance - Cardiac disease common Related to degree of hyperlipidemia |
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Nucleoside Reverse Transcriptase Inhibitor (NRTI)-induced Lipodystrophy
How is this different from PI-induced lipodystrophy? |
NO insulin resistance
-- Glucose, insulin, C-peptide are low Less hyperlipidemia (not problematic) |
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Pathogenesis of NRTI induced Lipodystrophy is linked to what?
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Mitochondrial damage
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MC causes of NRTI induced lipodystrophy?
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Most commonly stavudine (and zidovudine)
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Insulin-related lipodystrophy is m/c assoc with what?
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Seen m/c with non-purified insulin
Tx: switch to purified form of insulin (human or porcine) |
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M/C cause of Involutional lipodystrophy
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ILK or IM or intra-articular steroid or antibiotic injections
Women only Buttocks, proximal extremities, scalp |
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Atrophic connective tissue disease Lipoatrophy
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Upper or lower extremities
Lymphoplasmacytic panniculitis in path Associated CTD |
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Lipoatrophia semicircularis
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Symmetric, asymptomatic linear horizontal depressions across anterolateral thighs
Young adult women |
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Pseudosclerotic band encircling arm or ankle
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Annular lipoatrophy
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Starts on one spot in trunk or abdomen --> centrifugal spread to abdomen or chest
Well-demarcated area of lipoatrophy with rim of erythema/scale Young Asians (3-5 yo) --> improve around adolescent years |
Lipodystrophia centrifugalis abdominalis infantalis
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Lupus profundus-induced lipoatrophy distribution
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Face, scalp, proximal extremities
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Name the Disease:
Look like generalized lipodystrophy Elfin facies, severe IUGR, prominent nipples, loose skin, macrophalus, early death Insulin receptor gene mutation |
Leprechaunism (Donohue syndrome)
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SHORT syndrome
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S – short stature
H – hyperextensible joints O – ocular depression R – Rieger anomaly (iridocorneal mesodermal dysgenesis) T – teething delay In some classification, this is a “congenital lipoatrophy of the face and upper body” |
