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Disease Profile
Cold agglutinin disease
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.
1-9 / 1 000 000
Age of onset
Adult
ICD-10
D59.1
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
Anemia, hemolytic, cold antibody; Cold antibody hemolytic anemia; Cold antibody disease;
Categories
Blood Diseases
Summary
Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's
Symptoms
Most people with CAD have symptoms of
- Tiredness (fatigue).
- Dizziness.
- Headaches.
- Cold hands and feet.
- Pale skin.
- Dark urine.
Jaundice .- Chest pain.
- Pain in the back or legs.
- Vomiting or diarrhea.
- Heart problems such as an irregular heartbeat (arrhythmia), a heart murmur, an enlarged heart, or heart failure. These may occur because the heart has to work harder to make sure the body gets enough healthy red blood cells.
Many people with CAD also experience pain and bluish coloring of the hands and feet (acrocyanosis) or Raynaud's disease.[1][5][7] These symptoms result from slow or poor circulation and can range from mild to disabling.[5]
Other signs and symptoms of CAD may include enlargement of the spleen (splenomegaly) and mottled discoloration of the skin (livedo reticularis).[2][4][7]
In people with secondary CAD (associated with another underlying condition), there may be additional signs and symptoms depending on the condition present. For example:[1]
- Mycoplasma pneumoniae infection (the most common cause of secondary CAD) may cause respiratory symptoms.
- Various infections or
cancers may cause enlarged or swollen lymph nodes.
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 | ||
Arthralgia |
Joint pain
|
0002829 |
Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ] |
0002960 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Hemolytic anemia | 0001878 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Pallor | 0000980 | |
5%-29% of people have these symptoms | ||
Abnormal urinary color |
Abnormal urinary colour
Abnormal urine color
[ more ] |
0012086 |
Back pain | 0003418 | |
Diarrhea |
Watery stool
|
0002014 |
Headache |
Headaches
|
0002315 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Nausea and vomiting | 0002017 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Cause
- Bacterial Infections such as mycoplasma, Legionnaires' disease, syphilis, listeriosis, or E. Coli
- Viral infections such Epstein-Barr virus, cytomegalovirus, mumps, varicella, rubella, adenovirus, HIV, influenza, or hepatitis C
- Parasitic infections such as malaria or trypanosomiasis
- Other
autoimmune diseases such as systemic lupus erythematosus - Certain types of
cancers such as lymphoma, chronic lymphocytic leukemia, Waldenström macroglobulinemia, multiple myeloma, and Kaposi sarcoma
Diagnosis
Detailed information about the various tests used to make a diagnosis of cold agglutinin disease is available on Medscape Reference's website. Please click on the link to access this resource.
Treatment
In severe cases of hemolysis, medical interventions may be necessary. Rituximab (an
Several possible therapies have been reported in a few case reports to have successfully treated people who are not responding to the treatments listed above.[3][8] However more studies need to be performed before the safety and effectiveness of these therapies can be determined. Click the link to view the therapies presently being studied in cold agglutinin clinical trials.
Related diseases
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
|
---|
The differential diagnosis for cold agglutinin disease is mixed AIHA (see this term).
Visit the Orphanet disease page for more information.
|
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
-
Cold Agglutinin Disease Foundation (CADF)
1874 E. State, Suite 4
Cherry Hill, NJ 08003
E-mail: [email protected]
Website: https://coldagglutinindisease.org
Social Networking Websites
- Visit the following Facebook groups related to Cold agglutinin disease:
Cold Agglutinin Disease Foundation Chat
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/
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 Merck Manual provides information on this condition for patients and caregivers.
- 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 Merck Manual for health care professionals provides information on Cold agglutinin disease.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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.
- 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 Cold agglutinin disease. Click on the link to view a sample search on this topic.
References
- Aljubran SA. Cold Agglutinin Disease. Medscape Reference. April, 2015; https://emedicine.medscape.com/article/135327-overview.
- Anemia, Hemolytic, Cold Antibody. National Organization for Rare Disorders (NORD). 2006; https://rarediseases.org/rare-diseases/anemia-hemolytic-cold-antibody/.
- Schrie SL, Rosse WF. Clinical features and treatment of autoimmune hemolytic anemia: Cold agglutinins. UpToDate. Waltham, MA: UpToDate; September 11, 2015; https://www.uptodate.com/contents/clinical-features-and-treatment-of-autoimmune-hemolytic-anemia-cold-agglutinins.
- Michel M. Cold agglutinin disease. Orphanet. August, 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=56425.
- Berentsen S, Randen U, Tjønnfjord GE. Cold agglutinin-mediated autoimmune hemolytic anemia. Hematol Oncol Clin North Am. June, 2015; 29(3):455-471. https://www.ncbi.nlm.nih.gov/pubmed/26043385.
- Hemolytic anemia. National Heart, Lung, and Blood Institute (NHLBI). https://www.nhlbi.nih.gov/health-topics/hemolytic-anemia. Accessed 12/18/2017.
- Swiecicki PL, Hegerova LT, Gertz MA. Cold agglutinin disease. Blood. August 15, 2013; 122(7):1114-1121. https://www.bloodjournal.org/content/122/7/1114?sso-checked=true.
- Barcellini W. Current treatment strategies in autoimmune hemolytic disorders. Expert Rev Hematol. October 2015; 8(5):681-91. https://www.ncbi.nlm.nih.gov/pubmed/26343892.
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