Giant cell arteritis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
GCA; Temporal arteritis; Cranial arteritis;
Blood Diseases; Kidney and Urinary Diseases; RDCRN
Signs and symptoms of GCA may include:
- Non-specific symptoms such as fever, fatigue, and weight loss.
- Headaches, which most often occur over the temples. They may progressively worsen or they may sometimes go away and come back. They may be associated with tenderness of the scalp.
- Pain in the jaw when chewing (jaw claudication).
- Transient (not lasting) vision impairment, which most often occurs in one eye but sometimes in both.
- Partial or complete permanent vision loss, which is most often sudden and painless. Loss of vision in one or both eyes is reported in 15 to 20 percent of people with GCA.
- Polymyalgia rheumatica, a condition that causes muscle pain and stiffness in the neck, shoulders, and hips. This can occur with or without GCA but occurs in about 40% to 50% of people with GCA.
- Other musculoskeletal symptoms such as pain from inflammation of the
tissuesthat line the joints (synovitis), swelling of the hands and/or feet, and pitting edema (noticeable swelling due to fluid build-up).
- Upper respiratory symptoms, particularly a dry cough.
- Symptoms specific to large vessel GCA, which refers to involvement of the aorta and its major proximal branches, especially in the arms. People with large vessel GCA are at increased risk for severe complications including aortic aneurysm and dissection.
Central nervous systemmanifestations such as stroke (which is uncommon), and rarely, peripheral neuropathy, mononeuritis multiplex, myelopathy, dementia, or other symptoms.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Disruption of blood oxygen supply to brain
[ more ]
[ more ]
[ more ]
Inflammation of blood vessel
|30%-79% of people have these symptoms|
Weakness of muscles controlling eye movement
|5%-29% of people have these symptoms|
|Abdominal aortic aneurysm||0005112|
Pain in stomach
[ more ]
|Abnormal pleura morphology||0002103|
Tear in inner wall of large artery that carries blood away from heart
Blood clot in artery
|Conductive hearing impairment||
Conductive hearing loss
[ more ]
|Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis||0011658|
[ more ]
Death of body tissue due to lack of blood flow or infection
Death of digestive organ tissue due to poor blood supply
Inflammation of the tongue
Smooth swollen tongue
[ more ]
Blood in urine
[ more ]
Swollen lymph nodes in center of chest
[ more ]
Involuntary, rapid, rhythmic eye movements
Pins and needles feeling
[ more ]
Swelling or irritation of membrane around heart
Drooping upper eyelid
Recurrent sore throat
Renal failure in adulthood
[ more ]
Open skin sore
|Sudden cardiac death||
Premature sudden cardiac death
|Visual field defect||
Partial loss of field of vision
Loss of vision
[ more ]
|Percent of people who have these symptoms is not available through HPO|
The genetic factors currently linked to the development of GCA are not thought to directly cause GCA, but they may cause a
Recent studies have confirmed a strong association of GCA with genetic variations in the human leukocyte antigen (HLA) gene family, a cluster of
Variations in other genes, which are not part of the HLA gene family, have also been associated with an increased risk to develop GCA. These include the PTPN22, NLRP1, IL17A, IL33, and LRRC32 genes. Outside of the HLA-related genes, certain variations in the PTPN22 seem to be the most strongly associated with GCA. This gene is known as a common
Several additional factors are known to increase a person's risk to develop GCA. These include:
- Age GCA affects older adults almost exclusively
- Sex Females are about two times more likely than males to develop GCA
- Ethnicity Higher rates of GCA occur in people with Northern European (especially Scandinavian) descent
- Polymyalgia rheumatica About 15% of people with polymyalgia rheumatica also have GCA
The U.S. Food and Drug Administration (FDA) approved the use of under the skin injection (subcutaneous) of tocilizumab (Brand name: Actemra) to treat adults with giant cell arteritis. Remember that only your doctor can prescribe a medication, so please talk to your doctor to find out if this medication may be right for you.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
In elderly patients presenting with general symptoms and elevated inflammatory markers, diagnoses of cancer or infection need to be considered. Symptoms of polymyalgia rheumatica can also point towards diagnoses of isolated polymyalgia rheumatica or rheumatoid arthritis. In some instances, biopsy-proven involvement of the temporal arteries can be seen in other systemic vasculitides, e.g., polyarteritis nodosa or microscopic polyangiitis.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Polymyalgia Rheumatica & Giant Cell Arteritis UK (PMRGCAuk)
Telephone: 0300 999 5090
P.O. Box 28660
Kansas City, MO 64188
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The Mayo Clinic Web site provides further information on Giant cell arteritis.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The Merck Manual provides information on this condition for patients and caregivers.
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Giant cell arteritis. Click on the link to view a sample search on this topic.
- Polymyalgia Rheumatica and Giant Cell Arteritis. NIAMS. April, 2015; https://www.niams.nih.gov/Health_Info/Polymyalgia/default.asp.
- Temporal arteritis. MedlinePlus. February 6, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000448.htm.
- Docken WP, Rosenbaum JT. Clinical manifestations of giant cell arteritis. UpToDate. Waltham, MA: UpToDate; December 8, 2017; https://www.uptodate.com/contents/clinical-manifestations-of-giant-cell-arteritis.
- Alfred Mahr. Giant cell arteritis. Orphanet. October, 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397.
- Arteritis, Giant Cell. NORD. 2007; https://rarediseases.org/rare-diseases/arteritis-giant-cell/.
- Carmona FD, Martín J, González-Gay MA. New insights into the pathogenesis of giant cell arteritis and hopes for the clinic. Expert Rev Clin Immunol. January, 2016; 12(1):57-66. https://www.ncbi.nlm.nih.gov/pubmed/26367100.
- HLA gene family. Genetics Home Reference. February, 2009; https://ghr.nlm.nih.gov/geneFamily/hla.
- Carmona FD, et. al. A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility. Am J Hum Genet. April, 2015; 96(4):565-580.
- Giant cell arteritis. Mayo Clinic. October 5, 2012; https://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/basics/definition/con-20023109.
- FDA approves first drug to specifically treat giant cell arteritis. U.S. Food & Drug Administration (FDA). May 22, 2017; https://www.fda.gov/newsevents/newsroom/pressannouncements/ucm559791.htm.
- Mythili Seetharaman. Giant Cell Arteritis (Temporal Arteritis). Medscape Reference. November 4, 2015; https://emedicine.medscape.com/article/332483-overview#a6.