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First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood

Chiara Pizzamiglio1, Nayana Lahiri2, Niranjanan Nirmalananthan3

  • 1MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.

Neuromuscular Disorders : NMD
|June 12, 2020
PubMed

Insights

LPIN1 mutations typically cause severe childhood rhabdomyolysis. This study highlights milder LPIN1-related rhabdomyolysis in adolescents and adults, triggered by infections and metabolic stress.

Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Medicine

Background:

  • LPIN1 mutations are a primary cause of autosomal recessive, recurrent, and severe acute rhabdomyolysis, typically presenting in early childhood before age 5.
  • This condition often leads to life-threatening episodes, with a mortality rate of approximately one-third of affected patients.

Observation:

  • This report details two cases of acute rhabdomyolysis with a milder clinical presentation attributed to LPIN1 mutations.
  • One case manifested in adolescence (11 years old) following Parvovirus infection, while the other appeared in adulthood (40 years old) after metabolic stress.

Findings:

  • The study suggests that specific mutation types, epigenetic factors, environmental triggers, and structural similarities to other proteins may influence the onset and severity of LPIN1-associated rhabdomyolysis.
  • These findings indicate that LPIN1 mutations can present with a broader phenotypic spectrum than previously recognized.

Implications:

  • LPIN1 gene analysis should be considered in the diagnostic workup for adult-onset rhabdomyolysis.
  • Metabolic and viral stressors should be recognized as potential triggers for rhabdomyolysis, even in individuals with underlying genetic predispositions.

Keywords:
AdultLPIN1Next generation sequencingRhabdomyolysis

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