Rare Medical News

Disease Profile

Abdominal aortic aneurysm

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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

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)

Aneurysm, abdominal aortic

Categories

Blood Diseases; Congenital and Genetic Diseases; Heart Diseases

Summary

Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back.[1] If the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock.[1][2] About 20% of AAAs eventually rupture and are often fatal.[1] The condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inherited syndrome. When more than one family member is affected, it may be considered "familial abdominal aortic aneurysm."[3] Treatment depends on the size of the aneurysm and may include blood pressure medications, or surgery to repair the aneurysm.[1]

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
Dysphasia
0002357
Frontotemporal cerebral atrophy
0006892
Frontotemporal dementia
0002145
Grammar-specific speech disorder
0006977
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory

[ more ]

0002354
Spoken Word Recognition Deficit
0030391
Temporal cortical atrophy
0007112
Thickened nuchal skin fold
Thickened skin folds of neck
Thickened skin over the neck

[ more ]

0000474
30%-79% of people have these symptoms
Abnormal brain FDG positron emission tomography
0012658
Abnormality of the cerebral white matter
0002500
Alexia
Text blindness
Word blindness

[ more ]

0010523
Anxiety
Excessive, persistent worry and fear
0000739
Apraxia
0002186
Depressivity
Depression
0000716
EEG with continuous slow activity
0011204
5%-29% of people have these symptoms
Abnormal lower motor neuron morphology
0002366
Astrocytosis
0002446
Dysgraphia
0010526
Motor aphasia
Loss of expressive speech
0002427
Mutism
Inability to speak
Muteness

[ more ]

0002300
Parkinsonism
0001300
Perseveration
0030223
Personality changes
Personality change
0000751
Restlessness
0000711
Senile plaques
0100256
Percent of people who have these symptoms is not available through HPO
Abdominal aortic aneurysm
0005112
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Multifactorial inheritance
0001426

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

    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

        • 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 Manuals Online Medical Library provides information on this condition for patients and caregivers.

          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. 
            The Online Mendelian Inheritance in Man (OMIM)
            Online Mendelian Inheritance in Man (OMIM)
            The Online Mendelian Inheritance in Man (OMIM)
          • 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 Abdominal aortic aneurysm. Click on the link to view a sample search on this topic.
          • UpToDate has an article on Abdominal aortic aneurysm. Click on UpToDate to view the page.

            Selected Full-Text Journal Articles

            • The American Family Physician provides an online journal article about abdominal aortic aneurysm. Click on the link above to access this article.

              References

              1. John W. Hallett. Abdominal Aortic Aneurysms. Merck Manuals. January, 2008; https://www.merckmanuals.com/home/heart_and_blood_vessel_disorders/aneurysms_and_aortic_dissection/aneurysms.html?qt=abdominal%20aortic%20aneurysm&alt=sh#v722650. Accessed 2/25/2014.
              2. Weinrauch LA. Abdominal aortic aneurysm. MedlinePlus. August 28, 2008; https://www.nlm.nih.gov/medlineplus/ency/article/000162.htm. Accessed 1/16/2009.
              3. Ada Hamosh. AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1; AAA1. OMIM. December 20, 2011; https://omim.org/entry/100070. Accessed 2/25/2014.
              4. Emile R Mohler III. Epidemiology, risk factors, pathogenesis and natural history of abdominal aortic aneurysm. UpToDate. Waltham, MA: UpToDate; February, 2014; Accessed 2/25/2014.

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