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Disease Profile

Congenital thrombotic thrombocytopenic purpura

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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

M31.1

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)

TTP, congenital; Thrombotic thrombocytopenic purpura, familial; Microangiopathic hemolytic anemia;

Categories

Blood Diseases; Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary

Congenital thrombotic thrombocytopenic purpura (congenital TTP) is a blood disorder in which blood clots form in the small blood vessels throughout the body. Signs and symptoms typically develop in infancy or early childhood, but in some cases they do not develop until adulthood, particularly during pregnancy in women or after an infection or vaccination. Signs and symptoms generally are due to hemolytic anemia, low platelets (thrombocytopenia), and neurologic dysfunction. Symptoms of anemia can include fatigue, paleness, jaundice, shortness of breath, and a rapid heart rate. Widespread thrombosis (abnormal clotting) can lead to problems with the nervous system (such as personality changes, headaches, confusion, and seizures), abnormal kidney function, heart problems, and gastrointestinal problems. Signs and symptoms often recur on a regular basis but the severity and frequency varies.[1][2][3]

Congenital TTP is caused by changes (mutations) in the ADAMTS13 gene and inheritance is autosomal recessive.[2] Treatment may involve plasma exchange (also called plasmapheresis) for acute episodes, and prophylactic plasma therapy for those with chronic disease. Women with congenital TTP should receive pregnancy counseling in order to prepare for management during pregnancy. Regular plasma infusions are needed during pregnancy, in addition to close monitoring.[2][3] Most people respond well to treatment, which can prevent long-term organ complications due to relapses. However, life expectancy largely depends on severity and whether other underlying conditions are present. Without treatment, congenital TTP is fatal.[2][3]

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
5%-29% of people have these symptoms
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Confusion
Disorientation
Easily confused
Mental disorientation

[ more ]

0001289
Elevated serum creatinine
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine

[ more ]

0003259
Fever
0001945
Hemolytic-uremic syndrome
0005575
Increased blood urea nitrogen
0003138
Increased serum lactate
0002151
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Microangiopathic hemolytic anemia
0001937
Microscopic hematuria
Small amount of blood in urine
0002907
Prolonged neonatal jaundice
Prolonged yellowing of skin in newborn
0006579
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Reticulocytosis
Increased immature red blood cells
Increased number of immature red blood cells

[ more ]

0001923
Schistocytosis
0001981
Thrombocytopenia
Low platelet count
0001873
Tremor
0001337

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    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

      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.
      • Genetics Home Reference (GHR) contains information on Congenital thrombotic thrombocytopenic purpura. This website is maintained by the National Library of Medicine.
      • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
      • 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 Congenital thrombotic thrombocytopenic purpura. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles

            References

            1. Thrombotic thrombocytopenic purpura. Genetics Home Reference. 2008; https://ghr.nlm.nih.gov/condition/thrombotic-thrombocytopenic-purpura. Accessed 4/7/2011.
            2. Coppo P. Congenital thrombotic thrombocytopenic purpura. Orphanet. February, 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583.
            3. Wun T. Thrombotic Thrombocytopenic Purpura (TTP). Medscape Reference. September 25, 2017; https://emedicine.medscape.com/article/206598-overview.