Jordans' anomaly
| Jordans' anomaly | |
|---|---|
| Other names | Jordan anomaly, Jordans bodies |
Chanarin-Dorfman syndrome | |
| Specialty | Hematology |
| Symptoms | Persistent vacuolation of white blood cells |
| Diagnostic method | Blood smear examination |
Jordans' anomaly (also known as Jordan anomaly and Jordans bodies) is a familial abnormality of
peripheral blood and bone marrow. Jordans' anomaly is associated with neutral lipid storage diseases.[1][2][3]
Genetics
Jordans' anomaly is a characteristic finding in Chanarin-Dorfman syndrome and other neutral lipid storage diseases.[2][4] The anomaly is associated with mutations in the PNPLA2 gene, which produces the enzyme adipose triglyceride lipase (ATGL), and the ABHD5 gene, which encodes a cofactor of ATGL. These mutations lead to defective triglyceride breakdown and accumulation of lipid droplets in cells throughout the body.[3][5][4]
Histopathology
The vacuoles of Jordans' anomaly contain neutral lipids that stain positive with Sudan staining techniques.[2][4]
History
The anomaly was first described in 1953, by Dr. G. H. Jordans, who identified abnormal
genetic mutations affecting triglyceride metabolism in 2006.[5]
References
- ^ ISBN 978-0-7817-6507-7.
- ^ ISBN 978-1-118-81729-2.
- ^ PMID 21122093.
- ^ PMID 31186072.
- ^ S2CID 23679419.
- PMID 13079655.
- PMID 5330405.
- PMID 1139147.)
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