Even an amateur Pokemon Trainer could identify the mystery silhouette in this picture as Bulbasaur…EXCEPT WHEN IT’S A MUTANT QUADRUPEDAL PIKACHU!

And sometimes in medicine, there are case studies that make us spew our proverbial cornflakes in astonishment.  I remember one case report presentation of a young female who unfortunately had recurrent pancreatitis and sky-high triglycerides in the thousands.  My first thought was complete lipoprotein lipase (LPL) deficiency or a biallelic variant causing functional LPL deficiency. (I’m sure this was your first thought as well, but you can read more about severe hypertriglyceridemia and chylomicronemia in the 2nd Edition of THIS BOOK).  These alleles include LMF1, APOC2, APOA5, and GPIHBP1, and sometimes I rattle these off in rapid succession in an attempt to “seem cool” to other people who probably also wore windbreakers most of their childhood.

But as the presenter continued the discussion, further testing revealed NO GENETIC ANOMALIES.  And then it was discovered that the young female had lupus nephritis and a concomitant autoantibody to GPIHBP1! (GPIHBP1 anchors LPL at the capillary endothelium where the Triglyceride Transaction takes place).  Ironically, it was only after treatment with corticosteroids, which typically INCREASE triglyceride levels, that her triglycerides normalized!

Occasionally, people with autoimmune diseases such as systemic lupus erythematosus or Sjogren’s will develop autoantibodies to LPL or factors, such as GPIHBP1, involved in LPL function, so this is something that Lipid Specialists need to keep in mind in cases of severe hypertriglyceridemia.

So what’s my point with all of this?  Even though you might be confident in your diagnostic approach, occasionally that Bulbasaur silhouette might be a weird Pika-Bulb.  Some influencers would encourage us to Stay Curious, which is fine, but more importantly, I’d say Stay Humble!