Testis - a novel storage site in human cholesteryl ester storage disease -Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma

A case of long-standing subclinical cholesteryl ester storage disease (CESD ) manifesting as hyperlipoproteinaemia type IIb without any hepatomegaly is described. The patient underwent surgical vascular interventions because o f accelerated atherosclerosis, which dominated his middle age. CESD was an incidental finding when a liver biopsy specimen was taken because liver mal ignancy was suspected; the patient's condition proved to be due to a cholan giocarcinoma, which led to his death at the of age 52. The autopsy showed m oderate-intensity storage in the set of cells characterized by constitution al high-level receptor-mediated LDL endocytosis (hepatocytes, adrenal corti cal cells) and also revealed storage in the Leydig cells. The severity with which histiocytes were affected varied regionally, ranging from minimal de tectable storage or none at all (gut, lymph nodes, spleen) to extreme lysos omal expansion by cholesteryl ester liquid crystals (bone marrow) or by cer oid (lung, testicular stroma), or by both (liver). The density of the histi ocytic population did not correlate with the degree to which parenchymal ce lls were affected except in the testicular stroma, where it was prominent. The patient was a mixed heterozygote for the G934A and Delta C673-5 mutatio ns.