Imperial College calls for early detection of a rare genetic cholesterol disorder
Abu Dhabi, May 5/ WAM/ The M42 Embrace London Center for M42 joined the global efforts to raise awareness of the symmetrical family cholesterol hypertolism (Hofh), the rare and life -threatening genetic disease that causes a severe rise in cholesterol levels from birth.
Hofh is the most dangerous form of family blood cholesterol (FH) and causes inheritance of two variable copies of the FH gene, one of each father, and if the disease is not diagnosed and is treated early, it may lead to severe cardiovascular diseases that appear in childhood or adolescence.
Despite its scarcity, Hofh represents a global health challenge as the number of people with it is estimated at one in every 300,000 people around the world and the total number of patients is 34 million.
The Center stressed that the day of awareness of Hofh is an opportunity to highlight the importance of early diagnosis and effective treatment for rare fat disorders, especially in light of the expansion of genetic tests and the availability of specialized care.
The fat clinic of the center, led by Dr. Sarah Quraishi, consultant internal medicine, provides advanced diagnostic and therapeutic services to those with complex fat disorders, including Hofh. The diagnostic mechanism includes sending blood samples suspected of infection to genetic examinations conducted in the M42 Biogenx laboratories.
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