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Dermatology
Lipodystrophies
Built from Dermatology, 5th Edition
What’s inside
14 sections · 122 slides
What Lipodystrophy Is
Selective fat loss, its patterns, and why fat loss matters
- Definition of lipodystrophy
- Lipoatrophy vs lipodystrophy vs lipohypertrophy
- Why fat loss causes disease
- Two axes of classification
- Distribution of fat loss and fat gain
- Reading the classification table
- Lipodystrophy syndromes: quick-reference
- Lipodystrophy syndromes: quick-reference (continued)
Pathogenesis
Why fat cells fail, and how that drives metabolic disease
- Fat as an endocrine organ
- Fat cell hormones and metabolic disease
- A common pathway: fat cells that cannot store fat
- From fat cell failure to metabolic disease
- Adiponectin: the protective fat hormone
- Leptin replacement reverses insulin resistance
Congenital Generalized Lipodystrophy
Berardinelli-Seip syndrome: near-total fat loss from birth
- Congenital generalized lipodystrophy: overview
- CGL types 1 and 2: enzyme and lipid droplet defects
- CGL types 3 and 4: caveolae defects
- Why the four types look different
- CGL: cadaveric facies and muscular build
- CGL: anabolic features and metabolic timeline
- CGL: organ complications and outcome
- CGL: how the four types differ in severity
- Features of congenital generalized lipodystrophy
- Features of congenital generalized lipodystrophy
- Features of congenital generalized lipodystrophy (continued)
- Extensive acanthosis nigricans and lipodystrophy in CGL
- CGL with acanthosis nigricans and clitoromegaly
- Extensive acanthosis nigricans in CGL
Familial Partial Lipodystrophy
Later-onset, limb-predominant inherited fat loss
- Familial partial lipodystrophy: overview
- FPLD subtypes by gene
- FPLD2: the LMNA gene and nuclear lamina
- LMNA mutations cause a family of diseases
- FPLD3: the PPARG gene
- FPLD4 and the rare FPLD5-7 subtypes
- Familial partial lipodystrophy with mandibuloacral dysplasia
- FPLD2: what fat loss looks like
- Metabolic disturbances in FPLD
- Skin and gynecologic findings in FPLD
- Clinical features of FPLD with mandibuloacral dysplasia
Other Genetic Lipodystrophy Syndromes
Proteasome disease and a childhood panniculitis syndrome
- Proteasome-associated autoinflammatory syndromes
- PRAAS: lipodystrophy and pathology
- Recurrent lipoatrophic panniculitis of children
Acquired Generalized Lipodystrophy
Lawrence syndrome: rare, non-genetic, widespread fat loss
- Acquired generalized lipodystrophy: overview
- What comes before AGL
- AGL: three subtypes
- AGL diagnostic criteria and subtypes
- Acquired generalized lipodystrophy: diagnostic criteria and subtypes
- AGL: clinical pattern of fat loss
- AGL: panniculitis and disease course
- Panniculitis preceding fat loss in AGL type 1
- AGL: organ and gynecologic complications
- AGL: skin findings and associated autoimmune disease
Acquired Partial Lipodystrophy
Barraquer-Simons syndrome: face-to-legs fat loss
- Acquired partial lipodystrophy: overview
- APL: pattern and timing of fat loss
- APL: face-to-legs distribution
- APL: another patient, with Sjogren syndrome
- APL: how complement drives adipocyte loss
- Complement-driven fat loss in APL
- APL: kidney disease and infection risk
- APL: other autoimmune associations and metabolic risk
Localized Lipoatrophy
The most common form: injections, pressure, trauma and panniculitis
- Localized lipoatrophy: overview
- Causes of localized lipoatrophy
- Injected medications that can cause localized lipoatrophy
- Insulin lipoatrophy
- Lipoatrophia semicircularis (semicircular lipoatrophy)
- Semicircular lipoatrophy: clinical course
- Pressure lipoatrophy from crossing the legs
- Involutional lipoatrophy
- Corticosteroid-injection involutional lipoatrophy under the microscope
- Atrophic connective tissue panniculitis and lupus panniculitis
- Facial lipoatrophy from lupus panniculitis
- Annular lipoatrophy
- Lipodystrophia centrifugalis abdominalis infantilis
- LCAI: clinical course and outcome
- LCAI of the face
- Other rare localized lipoatrophy patterns
Lipohypertrophy
When injected drugs cause fat to build up instead of shrink
- Lipohypertrophy from insulin therapy
- Other causes of lipohypertrophy
- Causes of lipohypertrophy
Pathology
What lipodystrophy looks like under the microscope
- General histologic picture
- Two histologic patterns in acquired lipodystrophy
- Involutional changes: two histologic subtypes
- Localized lipodystrophy and LCAI under the microscope
Differential Diagnosis
Rare syndromes and conditions that can mimic lipodystrophy
- Conditions that can mimic lipodystrophy
- Leprechaunism and SHORT syndrome
- Progeria-type syndromes, Cockayne syndrome, and AREDYLD
- Differential diagnosis of partial and localized lipodystrophy
- Poland syndrome and lipohypoplasia
- The role of whole-body MRI
Treatment
Managing appearance, metabolism, and systemic complications
- Three goals of lipodystrophy treatment
- Cosmetic treatment options
- Managing insulin injection-site lipoatrophy
- Treating the metabolic derangements
- Metreleptin: leptin replacement therapy
- Treatment of acquired partial lipodystrophy
- Newer drugs for severe high triglycerides
Acquired Lipodystrophy From Other Causes
HIV/ART, cancer drugs, POEMS syndrome, and stem cell transplant
- HIV/ART-associated lipodystrophy: overview
- Three mechanisms of ART-associated lipoatrophy
- Mechanisms of ART-associated lipoatrophy in the tissue
- Mechanisms of ART-associated lipoatrophy in detail
- Mechanisms of antiretroviral therapy-associated lipoatrophy
- Who is most at risk
- Clinical findings in HIV/ART lipodystrophy
- HIV/ART lipoatrophy of the face
- HIV/ART lipoatrophy of the cheeks and legs
- Temporal fat loss in HIV/ART-associated lipodystrophy
- Drug-specific fat redistribution patterns
- Metabolic and cardiovascular consequences
- Immune checkpoint inhibitor-associated lipodystrophy
- POEMS syndrome and allogeneic stem cell transplant
Summary
Key points to take away about lipodystrophy
- Key points on lipodystrophy
- References
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- Dermatology, 5th Edition (2-Volume Set)