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An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
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Atherosclerosis is a progressive disorder characterized by the buildup of plaques on the arterial inner wall, causing them to narrow and harden over time. These plaques comprise lipids, calcium, blood components, carbohydrates, and fibrous tissue. The process primarily affects the intima of large and medium-sized arteries, reducing blood flow in any artery.Etiology and risk factorsThe cause of atherosclerosis is multifactorial, involving a complex interplay among endothelial injury, lipid...
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An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis
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Familial giant cell arteritis.

Yi Ling Dai1, Ali Khodor2, Raul Ruiz-Lozano2

  • 1Ophthalmology, Lahey Hospital and Medical Center, Peabody, Massachusetts, USA.

BMJ Case Reports
|May 27, 2025
PubMed
Summary
This summary is machine-generated.

Familial giant cell arteritis, though rare, suggests a genetic component influencing treatment resistance and ischemic risks. Further genetic research is crucial for early diagnosis and managing patients prone to vision loss.

Keywords:
GeneticsVasculitisVisual pathway

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Area of Science:

  • Rheumatology
  • Genetics
  • Ophthalmology

Background:

  • The genetic underpinnings of giant cell arteritis (GCA) remain largely unknown.
  • Genetic factors may influence GCA treatment resistance and ischemic complication risks, such as vision loss.

Purpose of the Study:

  • To highlight the significance of familial cases in understanding GCA genetics.
  • To emphasize the need for genetic studies in GCA for improved patient outcomes.

Main Methods:

  • Retrospective case review of patients with temporal artery biopsy-positive GCA.
  • Analysis of familial GCA cases within a single institution over a 20-year period.

Main Results:

  • Identified two cases of familial giant cell arteritis (2.5%) among 198 patients.
  • Familial GCA suggests a potential genetic predisposition.

Conclusions:

  • Familial GCA cases underscore the importance of genetic investigations.
  • Further genetic studies can aid in timely diagnosis, risk stratification, and management of GCA patients, particularly for preventing ischemic sequelae.