The familial hypercholesterolemia (FH) is genetic disorder and is passed down through families. It is caused by a defect of the chromosome no. 19. Due to the condition, the body is unable to remove low density lipoprotein cholesterol (LDL-C) from the blood. The high levels of low density lipoprotein results in narrowing of the arteries, leading to a condition known as atherosclerosis, which could trigger premature heart attack (1). Familial hypercholesterolemia remains particularly untreated among children. It is only in 20% of the cases that the disease is actually diagnosed. Patients with hypercholesterolemia are 20 times at greater risk of suffering from premature congenital heart disorder compared to others (3). The early diagnosis of the condition could be done based upon the presence of a number of clinical signs such as tendon xanthomas. The tendon xanthomas are slowly enlarging subcutaneous nodules related to tendons or ligaments (Business).
The most commonly used methods for the diagnosis of familial hypercholesteroleamia are the US based MEDPED which refers to Make Early Diagnosis to Prevent Early Death, the Dutch lipid clinic sets of criteria, which have been statistically and genetically validated. The vast range of criterion which have been taken into consideration over here are- personal and family history, physical signs, mutations which is again an abstract term as the mutations produce varied responses among different individuals.
The prognosis for the disease is done through physical exams and blood tests. Physical examinations are used to report the presence of conditions such as the tendon xanthoma. Additionally, a comprehensive blood profiling could be conducted in order to analyse the presence of low density lipid. The blood test could be divided into a number of stages which analyses of the presence of premature cardiovascular disease or low density lipid within a first degree relative, personal history of premature peripheral or r cerebro- vascular disease and LDL count between 155-189 mg/dl.
The cascade screening employs genealogy to identify people who are at risk of contracting FH. Initially, the serum LDL-C is measured followed by DNA tests to confirm the gene 19 mutation (7). The screening for the same mutation is carried within the first degree relatives to identity the presence of the same defective alleles either in homozygous condition or in heterozygous condition.
During pregnancy physiological changes occur in lipid and lipoproteins, as there is metabolic shift from carbohydrate to lipids for maternal energy production. The procedure makes glucose available to the foetus. Studies have shown that maternal FH leads to atherosclerotic lesions in offspring (5).
Treatment and dietary management
The dietary management for FH differs with the stage of life that one is in. Most of the time the symptoms remain less represented within a particular population, which makes the diagnosis and the treatment difficult. The development of a number of lipid lowering drugs has been found to be effective for the treatment of FH on children. The discovery of medicines such as repetha, which is a cholesterol reducing injection developed by the US food and drug administration (FDA) have been discussed in this effect (4). In this regard, a number of lifestyle changes have been found to be effective in controlling and reducing the effects of FH within a population. Some of the lifestyle approaches such as healthy meals and physical activity have been found to be effective in controlling the progression through FH within the patient population. Some of the effective dietary interventions which could be suggested over here are adding omega-3 fatty acids, plant sterols and soya proteins to diet. Plant sterols helped in controlling the rate of serum low density lipoproteins.
The current study discusses the aspect of the presence and the progression of FH within the population. FH is a serious disorder and is triggered due to genetic mutations. The mutation bears a strong linkage to the familial level. The chances of contracting the disease are much more in case of the presence of the disease in a first degree relative. The progression though the disease can result in the development of premature cardiovascular diseases.
A number of recommendations could be provided over here which are:-
- Intake of diets rich in omega-3 fatty acids, soya proteins (7)
- Exercising regularly can help in controlling the build of f LDL in the blood (6)
- Reduction in smoking activities can prevent the progression of FH
- Diet rich in fresh fruits and vegetables can help in mobilising the bad cholesteron
. Gidding SS, Champagne MA, de Ferranti SD, Defesche J, Ito MK, Knowles JW, McCrindle B, Raal F, Rader D, Santos RD, Lopes-Virella M. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association. Circulation. 2015 Dec 1;132(22):2167-92.
. Santos RD, Gidding SS, Hegele RA, Cuchel MA, Barter PJ, Watts GF, Baum SJ, Catapano AL, Chapman MJ, Defesche JC, Folco E. Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. The Lancet Diabetes & Endocrinology. 2016 Oct 1;4(10):850-61.
. Tada H, Kawashiri MA, Nohara A, Inazu A, Mabuchi H, Yamagishi M. Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia. European heart journal. 2017 May 21;38(20):1573-9.
. Wiegman A, Gidding SS, Watts GF, Chapman MJ, Ginsberg HN, Cuchel M, Ose L, Averna M, Boileau C, Borén J, Bruckert E. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. European heart journal. 2015 May 25;36(36):2425-37.
. Khachadurian AK, Uthman SM. Dietary and drug management of familial hypercholesterolemia. InProtides of the Biological Fluids: Proceedings of the Nineteenth Colloquium, Bruges, 1971 2016 Apr 20 (p. 323). London: Elsevier.
. Nanchen D, Gencer B, Auer R, Räber L, Stefanini GG, Klingenberg R, Schmied CM, Cornuz J, Muller O, Vogt P, Jüni P. Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes. European heart journal. 2015 Jul 4;36(36):2438-45.
. van Lennep JR, Averna M, Alonso R. Treating homozygous familial hypercholesterolemia in a real-world setting: experiences with lomitapide. Journal of clinical lipidology. 2015 Jul 1;9(4):607-17.