Jordans' anomaly (also known as Jordan anomaly and Jordans bodies) is a familial abnormality of

white blood cell White blood cells, also called leukocytes or leucocytes, are the cells of the immune system that are involved in protecting the body against both infectious disease and foreign invaders. All white blood cells are produced and derived from mult ...

morphology. Individuals with this condition exhibit persistent vacuolation of

granulocytes Granulocytes are cells in the innate immune system characterized by the presence of specific granules in their cytoplasm. Such granules distinguish them from the various agranulocytes. All myeloblastic granulocytes are polymorphonuclear. They ...

and

monocytes Monocytes are a type of leukocyte or white blood cell. They are the largest type of leukocyte in blood and can differentiate into macrophages and conventional dendritic cells. As a part of the vertebrate innate immune system monocytes also infl ...

in the peripheral blood and

bone marrow Bone marrow is a semi-solid tissue found within the spongy (also known as cancellous) portions of bones. In birds and mammals, bone marrow is the primary site of new blood cell production (or haematopoiesis). It is composed of hematopoieti ...

. Jordans' anomaly is associated with neutral lipid storage diseases.

Genetics

Jordans' anomaly is a characteristic finding in Chanarin-Dorfman syndrome and other neutral lipid storage diseases. The anomaly is associated with mutations in the ''PNPLA2'' gene, which produces the enzyme

adipose triglyceride lipase Adipose triglyceride lipase, also known as patatin-like phospholipase domain-containing protein 2 and ATGL, is an enzyme that in humans is encoded by the ''PNPLA2'' gene. ATGL catalyses the first reaction of lipolysis, where triacylglycerols are ...

(ATGL), and the '' ABHD5'' gene, which encodes a cofactor of ATGL. These mutations lead to defective

triglyceride A triglyceride (TG, triacylglycerol, TAG, or triacylglyceride) is an ester derived from glycerol and three fatty acids (from ''tri-'' and '' glyceride''). Triglycerides are the main constituents of body fat in humans and other vertebrates, as ...

breakdown and accumulation of lipid droplets in cells throughout the body.

Histopathology

The vacuoles of Jordans' anomaly contain neutral lipids that stain positive with Sudan staining techniques.

History

The anomaly was first described in 1953, by Dr. G. H. Jordans, who identified abnormal vacuolation in the white blood cells of two brothers with congenital muscular dystrophy. Using special staining, Jordans demonstrated that the vacuoles contained

lipids Lipids are a broad group of naturally-occurring molecules which includes fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E and K), monoglycerides, diglycerides, phospholipids, and others. The functions of lipids includ ...

. In 1966, two further cases of persistent lipid vacuoles were reported in sisters presenting with ichthyosis. The Chanarin-Dorfman syndrome, comprising Jordans' anomaly, ichthyosis and lipid storage abnormalities, was defined in the 1970s, definitively connecting Jordans' anomaly to lipid storage disease. Jordans' anomaly was linked to

genetic mutations In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitos ...

affecting

metabolism in 2006.

References

{{Abnormal clinical and laboratory findings for blood Hematology Hematopathology Histopathology Abnormal clinical and laboratory findings for blood Lipid storage disorders