Genetic Family History

Better Essays
Familial Hypercholesterolemia: A Genetic Family History Familial hypercholesterolaemia (FH) is an autosomal, dominant, inherited disorder of lipoprotein metabolism that results in elevated low-density lipoprotein cholesterol (LDL) in plasma concentration (Henderson, O’kane, McGilligan, & Waterson, 2016). FH can dramatically increased risk of atherosclerosis, which can lead to a common genetic cause of premature coronary heart disease (CHD). It is crucial for patients to know their genetic family history and genogram to have early diagnosis, treatments, and follow ups that may delay the complications of the course of FH and consequently CHD or other cardiovascular diseases (CVD). The proband is paramount in identifying other at-risk individuals; hence, enabling, and educating these patients to discuss the risk with family members is essential. Nurses need the knowledge of FH genetic standpoint to educate patients and make appropriate referrals for individuals in need of genetic counseling. The purpose of this paper is to complete a genetic family history of an individual of choice. Construct a genogram and attach it to this paper as an Appendix. Provide and explanation of the genogram…show more content…
The lipoprotein gene mutation has a penetrance of greater than 90% (Henderson et al., 2016). Heterozygosity takes place when an individual has two dissimilar alleles of a gene. A single dominant gene can manifest itself in a heterozygous person particularly when there is high penetrance property. This is the reason why multiple generation can be affected by the FH disorder as seen in the proband and family members of the followed case discussion. Monogenic FH is largely attributed to mutations in the LDL-receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase, subtilisin/kexin-type 9 [PCSK9] genes (Brautbar et al.,
Get Access