Oman cascade screening
in familial hypercholesterolemia index
Once a subject is diagnosed with FH, cascade screening
, consisting of screening all first-degree relatives, proves to be a cost-efficient way to identify additional affected individuals (15-19).
(8) Therefore, it is highly important to screen the family (cascade screening
) of the individual confirmed to carry the FH mutation using plasma lipid levels and genetic testing, if available.
This paper presents a case for the prevention of the lysosomal storage disorders as a model for other inherited metabolic disorders in the form of antenatal testing and cascade screening
for couples and families at risk of having affected off-springs and compares it to the cost incurred on the enzyme replacement therapy in the backdrop of the health care priorities of Pakistan, a low middle income country.
The largely autosomal dominant nature of FH provides an opportunity to identify previously undiagnosed individuals from a person diagnosed with FH (ie, an index case) through the use of cascade screening
. Cascade screening
involves testing lipid levels in all first-degree relatives of the index case.
Recommendations also advocate that once an activating mutation has been found in one family member (the index case), cascade screening
of that mutation in first-degree relatives of the index case should be conducted to further assist in case identification and improve patient outcomes.
At present, in the absence of newborn screening in Pakistan, high-risk screening and cascade screening
involving relatives of index patient to identify asymptomatic patients and carriers can help in achieving favourable outcome.
The recent roll-out of an All-Wales genetic cascade screening
programme for familial hypercholesterolemia (All-Wales FH Testing Service) aims to reduce the social, economic and emotional burden of this under diagnosed condition." The spokeswoman said that in 2010 a large metaanalysis was published by The Lancet which confirmed the results of earlier studies regarding the benefits of standard dose statin therapy on cardiovascular outcomes.
"There's no reason why I shouldn't have as normal a life as any member of the public." Suzanne, who works for a law firm, added: "There was a big gap between finding out I had high cholesterol and being diagnosed with FH but now, with this programme of cascade screening
in place, there won't be such a delay for other families in Wales.
The cascade screening
technique will be employed and close co-operation with cardiological colleagues will be maintained.
This is a prospective non randomized study of clinically affected people, in order to confirm the diagnosis with molecular techniques and to perform cascade screening
of the rest of the family to offer them adequate genetic counseling.
Identifying familial mutations is important in Omani families to implement cost-effective methods to perform cascade screening
of carriers at risk and address risky consanguineous marriages.