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Table 2 Mortality

From: Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

Cause of death Genotype variant* (classification) Severity of splenomegaly at baseline Age at ASMD onset (years) Age group at baseline Age at death (years)
Splenic vein tear p.C433R/p.A198P (missense/missense) Severe 1 Pediatric 14
Heart failure, liver failure p.R610del/p.G247S (deletion/missense) Severe 1 Pediatric 16
Diarrhea, fever/portal hypertension with esophageal varices p.L105P/p.T544fs*69 (missense/frame shift) NA 0 Pediatric 17
Pneumonia p.Q294K/p.Q294K (missense/missense) Severe 2 Pediatric 20
Pneumonia p.L434P/p.L434P (missense/missense) sx 1 Adult 35
Multiple organ failure/infectious disease p.F482L/p.F482L (missense/missense) sx 30 Adult 56
Liver cancer p.A198P/p.A198P (missense/missense) Severe 9 Adult 65
Pneumonia p.L37Wfs*42/p.P186L (missense/frameshift) sx 8 Adult 71
Death from a gun shot p.R610del/p.R476W (deletion/missense) Moderate 1 Pediatric 22
  1. NA, not available; sx, splenectomy
  2. *Reference sequence NM 00543.4 nomenclature
  3. Splenomegaly: moderate ≥ 5 to < 15, severe ≥ 15 MN