Hypertriglyceridemia diagnosed around age 7 or 8, has been >6000 mg/dLType 2 diabetes diagnosed at age 21; at age 34 found to have elevated GAD65 antibodies consistent with type 1 diabetesHad an episode of acute pancreatitis at age 35; also found to have steatohepatitis and borderline splenomegalyDiagnosed with chronic inflammatory demyelinating polyneuropathy at age 35 and Sjogren's syndrome at age 36History of recurrent pericarditisPhysical examination notable for “central obesity, tall stature, large trunk, thin relatively muscular limbs”. The gene discussed is GAD2; the disease is chronic inflammatory demyelinating polyradiculoneuropathy.