Sarcopedia

Syndrome

Werner Syndrome

Synonyms: WS, adult progeria, progeria adultorum

WRN mutations cause DNA repair defect

Quick Facts

Behaviour

Not set

Category

Syndrome

Synonyms

  • WS
  • adult progeria
  • progeria adultorum

Category

Syndrome

Gender

M = F

Epidemiology

  • Autosomal recessive genetic disorder
  • WRN helicase gene mutations
  • Rare: 1 in 200,000 (Higher in Japan)
  • Premature ageing Syndrome
  • Increased malignancy risk (sarcomas, skin cancers, others)

Clinical Features

  • Premature ageing starting 2nd-3rd decade
  • Hair greying and loss
  • Skin atrophy and pigmentation
  • Short stature
  • Osteoporosis and Bone pathology
  • Type II diabetes
  • Atherosclerosis

Location

  • Skeletal: osteoporosis, atrophy
  • Soft tissues: atrophy
  • Increased sarcoma risk (especially osteosarcoma)

Imaging

  • Baseline Bone density assessment (DEXA)
  • Skeletal surveillance for sarcoma

Pathology

  • Bone atrophy in skeleton
  • Sarcoma histology if malignancy develops

Genetics

  • WRN helicase gene mutations
  • Autosomal recessive inheritance
  • DNA repair defect

Treatment

  • Surveillance for malignancy
  • Management of metabolic complications (diabetes, atherosclerosis)
  • Standard sarcoma treatment if malignancy develops

Prognosis

  • Premature ageing with median survival 47 years
  • Common causes of death: malignancy, cardiovascular disease
  • Sarcoma risk increased 1000-fold

Key Points

  • WRN mutations cause DNA repair defect
  • Premature ageing Syndrome
  • VERY High malignancy risk

Workup - Blood Tests

  • WRN genetic testing
  • Glucose (diabetes screening)
  • Lipid panel, cardioVascular assessment

Workup - Local Imaging

  • Baseline DEXA: Bone density
  • Baseline skeletal survey
  • Annual surveillance for sarcoma
  • Cardiovascular imaging as indicated

Workup - Biopsy

If malignancy develops

Workup - Other

  • Genetics consultation
  • Endocrinology: diabetes management
  • Cardiology: cardiovascular risk management

Follow-up Summary

  1. 1

    Annual full-body imaging

  2. 2

    Surveillance for osteosarcoma (High risk)

  3. 3

    Monitor for other malignancies

  4. 4

    Metabolic management

    diabetes, cholesterol

  5. 5

    Cardiovascular surveillance

Medical disclaimer

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