Siham Mahgoub

Abstract

This paper highlights the link between HIV and the increased risk of cardiovascular disease, using a case study on a patient with familial hypercholesterolemia (FH). Previous research has demonstrated the mechanisms through which HIV leads to higher incidents of cardiovascular disease. Even when virologically suppressed, patients living with HIV will experience increased baseline levels of inflammation. There is evidence that this may be related to HIV particle reservoirs within the body, causing plaque instability.

The case presented in this paper is of a 29-year-old male living with HIV, who was recently diagnosed with the genetic condition familial hypercholesterolemia (FH). The paper discusses the physiology of FH, as well as the interplay between HIV-associated inflammatory mechanisms and cardiovascular health.  The chronic inflammation associated with HIV can increase the uptake of oxidized LDL-C by macrophages and lead to foam cell formation and plaque development. This may exacerbate the already elevated LDL-C due to FH. The release of pro-inflammatory cytokines, such as tumor necrosis factor-alpha and inter-leukin-6, may be increased due to HIV-related immune activation. Additionally, some antiretroviral therapies may aggravate lipid metabolism, especially in patients with FH.

Mutations which lead to FH are also reported in the paper, as there are several genetic factors through which LDL cholesterol levels may become elevated. The genetic mutations that result in FH are heterozygous FH (HeFH) and homozygous FH (HoFH). Patients with HeFH may have LDL cholesterol levels that range from two to three times higher than normal, causing advanced risk for premature cardiovascular diseases. Patients with HoFH, which is the rarer and more severe form of FH, can have cholesterol levels that exceed 500mg/dL. This form of FH requires aggressive treatment, or they will be at risk for severe cardiovascular events, starting as early as childhood.

As FH is typically diagnosed through clinical symptoms, the paper describes the clinical manifestations of FH and how it may progress into cardiovascular complications. Patients with FH may develop xanthomas or arcus senilis, caused by deposits of cholesterol. If left untreated, patients may experience cardiovascular complications, such as coronary artery disease or aortic stenosis. If left untreated, these events can prove fatal for patients. The paper concludes with treatment options, including lifestyle modifications and pharmacologic therapies, available to clinicians who treat patients with FH. Diet and exercise are the most common changes advised by clinicians, along with statins to inhibit cholesterol synthesis in the liver.

Key Takeaways:

• Insight on how to identify clinical features of Familial Hypercholesterolemia.


• Effect of inflammation and risk of cardiovascular events in patients living with HIV, including those who are virologically suppressed.


• Assist clinicians in early recognition and treatment of familial hypercholesterolemia.


• Presents usefulness of genetic testing for familial hypercholesterolemia, when feasible.