Articles related to GENETIC DISORDERS

A 55-year-old man with bilateral hand arthritis, ruddy complexion, and elevated transferrin saturation presents a diagnostic reasoning challenge with implications for screening, surveillance, and family testing.

Extreme LDL-C in young patients with family history points toward familial hypercholesterolemia, a common genetic disorder that remains undiagnosed in 70% of cases.

A laboratory study suggests it may be possible to selectively silence an extra chromosome in Down syndrome cells, offering a glimpse into future genetic approaches rather than a near‑term treatment.

Rare lipid disorders can drive extreme cholesterol abnormalities and early disease, making clinical recognition critical when lipid patterns don’t fit typical cardiology presentations.

“The team found that people with Chiari malformation share more shape traits in common with Neanderthals than do people without the malformation… indicating that some people today have Neanderthal genes that affect their skull shape.”

The constant presence of pain affects every aspect of daily living, with minimal friction causing severe blistering and requiring multiple daily wound care interventions across numerous body sites.