A severe form of Familial Hypercholesterolemia in which the blood looks strawberry pink in color due to excessive cholesterol!

A severe form of Familial Hypercholesterolemia in which the blood looks strawberry pink in color due to excessive cholesterol 😮

A child, 1 year and 2 months old, weighing 7.9 kg, was admitted to the hospital with extreme fatigue, cyanosis and dyspnea, doctors tried to take a blood sample to perform an ABG test ,but they were shocked by the strawberry pink color of the blood in the syringe , they asked for a lipidogram. The machines could not even read the total amount of lipids. The child was later diagnosed with (Familial Hypercholesterolemia).

Familial Hypercholesterolemia is a genetic disorder caused by a defect on chromosome 19.

The defect makes the body unable to remove low density lipoprotein (LDL, or bad) cholesterol from the blood. This results in a high level of LDL in the blood. This makes you more likely to have narrowing of the arteries from atherosclerosis at an early age. The condition is typically passed down through families in an autosomal dominant manner. That means you only need to get the abnormal gene from one parent in order to inherit the disease.

In rare cases, a child may inherit the gene from both parents. When this occurs, the increase in cholesterol level is more severe. The risk for heart attacks and heart disease are more higher.