Rare Pulmonology News

Disease Profile

Giant cell arteritis

Prevalence
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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Adult

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ICD-10

M31.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

GCA; Temporal arteritis; Cranial arteritis;

Categories

Blood Diseases; Kidney and Urinary Diseases; RDCRN

Summary

Giant cell arteritis (GCA) is a form of vasculitis, a group of disorders that cause inflammation of blood vessels. GCA most commonly affects the arteries of the head (especially the temporal arteries, located on each side of the head), but arteries in other areas of the body can also become inflamed. The inflammation causes the arteries to narrow, resulting in poor blood flow.[1] Signs and symptoms when arteries in the head are involved may include a throbbing headache on one side or the back of the head, tenderness of the scalp, flu-like symptoms, and/or problems with eyesight. Symptoms when other arteries are involved depend on the location of those arteries. The cause of GCA is still being studied, but it is thought to involve the immune system mistakenly attacking the artery walls. Several genetic and environmental factors may increase a person's risk to develop GCA. Complications of GCA may include permanent vision loss or a stroke, so treating the condition is important. Treatment may include corticosteroids and/or other medications that suppress the immune system.[2]

GCA may develop with or after another inflammatory disorder known as polymyalgia rheumatica, which occurs in about 40% to 50% of people with GCA.[3] 

Symptoms

Blood vessel inflammation in giant cell arteritis (GCA) most commonly affects the temporal arteries of the head, which are located on each side of the head. However, arteries in other areas of the body can also become inflamed, so symptoms may depend on which vessels are involved.[1] The onset of symptoms may be sudden or develop more subtly over time.[3]

Signs and symptoms of GCA may include:[3]

  • 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 tissues that 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 system manifestations 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
Learn More:
HPO ID
80%-99% of people have these symptoms
Anorexia
0002039
Cerebral ischemia
Disruption of blood oxygen supply to brain
0002637
Fatigue
Tired
Tiredness

[ more ]

0012378
Fever
0001945
Headache
Headaches
0002315
Impaired mastication
Chewing difficulties
Chewing difficulty
Difficulty chewing

[ more ]

0005216
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Vasculitis
Inflammation of blood vessel
0002633
Weight loss
0001824
30%-79% of people have these symptoms
Alopecia
Hair loss
0001596
Arthritis
Joint inflammation
0001369
Depressivity
Depression
0000716
Elevated erythrocyte sedimentation rate
High ESR
0003565
Ophthalmoparesis
Weakness of muscles controlling eye movement
0000597
5%-29% of people have these symptoms
Abdominal aortic aneurysm
0005112
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Abnormal pleura morphology
0002103
Abnormal thrombocyte morphology
Platelet abnormalities
0001872
Amaurosis fugax
0100576
Aortic dissection
Tear in inner wall of large artery that carries blood away from heart
0002647
Arterial thrombosis
Blood clot in artery
0004420
Arthralgia
Joint pain
0002829
Ataxia
0001251
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Cough
Coughing
0012735
Diabetes insipidus
0000873
Diplopia
Double vision
0000651
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
0011658
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed

[ more ]

0000421
Gangrene
Death of body tissue due to lack of blood flow or infection
0100758
Gastrointestinal infarctions
Death of digestive organ tissue due to poor blood supply
0005244
Glossitis
Inflammation of the tongue
Smooth swollen tongue

[ more ]

0000206
Hematuria
Blood in urine
0000790
Hepatic failure
Liver failure
0001399
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased

[ more ]

0000975
Mediastinal lymphadenopathy
Swollen lymph nodes in center of chest
0100721
Meningitis
0001287
Muscle weakness
Muscular weakness
0001324
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy
0000648
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Pericarditis
Swelling or irritation of membrane around heart
0001701
Ptosis
Drooping upper eyelid
0000508
Recurrent pharyngitis
Recurrent sore throat
0100776
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Skin ulcer
Open skin sore
0200042
Sudden cardiac death
Premature sudden cardiac death
0001645
Vertigo
Dizzy spell
0002321
Visual field defect
Partial loss of field of vision
0001123
Visual loss
Loss of vision
Vision loss

[ more ]

0000572
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Blindness
0000618
Retinal arteritis
0008030

Cause

While the exact cause of giant cell arteritis (GCA) is unknown, some studies have linked genetic factors, infections with certain virus or bacteria, high doses of antibiotics, and a prior history of cardiovascular disease to the development of GCA.[4][2] These associations suggest GCA is caused by an abnormal immune response, where the body's immune system attacks the arteries.[2]

The genetic factors currently linked to the development of GCA are not thought to directly cause GCA, but they may cause a genetic predisposition to the condition. This means that a person may carry a genetic variation (or more than one genetic variation) that increases their risk to develop GCA, but may also need one or more environmental triggers to develop GCA. Familial cases of GCA have been reported.[5]

Recent studies have confirmed a strong association of GCA with genetic variations in the human leukocyte antigen (HLA) gene family, a cluster of genes on chromosome 6.[6] The HLA gene family gives the body instructions to make a group of proteins known as the HLA complex. This complex helps the immune system distinguish between the body's own proteins and those made by foreign invaders such as viruses and bacteria.[7] More specifically, GCA has been associated with genetic variations in the HLA class I and class II genes.[6][8] HLA class I genes give the body instructions to make proteins that occur on the surface of almost all cells. HLA class II genes give instructions to make proteins that occur almost exclusively on the surface of certain immune system cells.[7]

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 susceptibility gene in autoimmunity since different variations in the gene have been consistently associated with many autoimmune diseases.[6]

 

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[9]

Treatment

Giant cell arteritis (GCA) is typically treated with high doses of corticosteroids to reduce the inflammation in the arteries. Corticosteroids should be started promptly (perhaps even before the diagnosis is confirmed with a biopsy). If not treated, GCA may cause permanent vision loss or a stroke. The symptoms of GCA usually quickly disappear with treatment, but high doses of corticosteroids are typically maintained for 1 month. It is known that the treatment is working when the symptoms are gone and the sedimentation rate, also known as sed rate (a blood test that measures the level of inflammatory activity), is normal. The corticosteroid dose may gradually be reduced.[1] Other medicines may help to reduce the doses of corticosteroids.[2]

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.[10] 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.

Organizations

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.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      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.

      Where to Start

      • 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.

        In-Depth Information

        • 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.

          References

          1. Polymyalgia Rheumatica and Giant Cell Arteritis. NIAMS. April, 2015; https://www.niams.nih.gov/Health_Info/Polymyalgia/default.asp.
          2. Temporal arteritis. MedlinePlus. February 6, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000448.htm.
          3. 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.
          4. Alfred Mahr. Giant cell arteritis. Orphanet. October, 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397.
          5. Arteritis, Giant Cell. NORD. 2007; https://rarediseases.org/rare-diseases/arteritis-giant-cell/.
          6. 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.
          7. HLA gene family. Genetics Home Reference. February, 2009; https://ghr.nlm.nih.gov/geneFamily/hla.
          8. 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.
          9. Giant cell arteritis. Mayo Clinic. October 5, 2012; https://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/basics/definition/con-20023109.
          10. 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.
          11. Mythili Seetharaman. Giant Cell Arteritis (Temporal Arteritis). Medscape Reference. November 4, 2015; https://emedicine.medscape.com/article/332483-overview#a6.

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