Metabolic Diseases

European Journal of Pediatrics

, Volume 155, Issue 8, pp 660-664

First online:

Dyslipidaemia in a boy with recurrent abdominal pain, hypersalivation and decreased lipoprotein lipase activity

  • D. MaternAffiliated withUniversitäts-Kinderklinik
  • , H. SeydewitzAffiliated withUniversitäts-Kinderklinik
  • , H. NiederhoffAffiliated withUniversitäts-Kinderklinik
  • , H. WiebuschAffiliated withInstitut für Arterioskleroseforschung
  • , M. BrandisAffiliated withUniversitäts-Kinderklinik

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An 8-year-old boy with frequently recurring pancreatitis-like abdominal pain, Fredrickson type V dyslipidaemia, and significantly decreased post-heparin plasma lipoprotein lipase (LPL) activity is described. In order to exclude familial LPL deficiency, the complete LPL coding gene sequence was analysed revealing compound heterozygosity for two mutations (Asp9Asn, Ser447Ter) which are not supposed to considerably impair lipolytic enzyme activity. However, until now the combination of both these mutations in one patient has not been observed. In addition to the common symptoms of LPL deficiency, a striking feature of unknown origin was hypersalivation. Treatment including a fat-restricted diet, omega-3 fatty acids, and nicotinic acid led to long symptom-free intervals. Symptoms recurred however when the diet was not strictly adhered to.

Key words

Lipoprotein lipase Hypertriglyceridaemia Hypersalivation Pancreatitis DNA analysis