Rare Neurology News

Disease Profile

Henoch-Schonlein 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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Childhood

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ICD-10

D69.0

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)

Purpura, Schonlein-Henoch; Anaphylactoid purpura; Vascular purpura;

Categories

Blood Diseases; Kidney and Urinary Diseases; Lung Diseases

Summary

Henoch-Schonlein purpura (HSP), also called immunoglobulin A vasculitis (IgAV), is a vascular disease that primarily affects small blood vessels. The disease is characterized by abnormal deposits of immunoglobulin A (an antibody) in the blood vessels, leading to their inflammation (vasculitis). The small vessels of the skin, joints, kidneys, and digestive organs are particularly involved. Signs and symptoms usually begin suddenly (and progress over days) and may include purple-colored spots on the skin (purpura); joint pain; and gastrointestinal problems such as abdominal pain, nausea, bloody stools, and rarely, severe complications requiring surgery. People with HSP may also develop glomerulonephritis (injury to the kidneys caused by inflammation) and poor kidney function, which may result in swelling of parts of the body or face (edema), and blood and protein in the urine (hematuria and proteinuria).[1][2][3][4][5][6] Most cases of HSP occur in children and go away without causing serious or long-term health problems. Less commonly, the disease affects adults and may be more severe, leading to chronic kidney disease and kidney failure.[1][2][3][4] The cause of HSP is not completely understood, but research indicates that genes (especially those involved in regulating the immune system) may play a key role in predisposing a person to HSP, as well as its severity.[1] However, while genes may increase the risk of developing the disease (and in some cases more than one family member has HSP), the disease itself is not inherited.[1][3] Environmental “triggers” such as foods, infections, or medications may also play a role in the onset of the disease.[1][4][5] The diagnosis of HSP may be made based on symptoms, blood and urine tests, imaging studies, and/or a biopsy of the skin or kidney.[4][5] Most cases go away within several weeks without treatment.[2][5] When needed, treatment aims to relieve symptoms and may include medications for pain and inflammation.[2][5] People with chronic kidney involvement or advanced kidney disease may require immunosuppressive medications, hemodialysis, or kidney transplantation.[3][4] The long-term outlook depends on the extent of kidney involvement.[7] Rarely, HSP is fatal due to kidney complications.[1][5] In some cases, the disease recurs, sometimes more than once.[8]

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
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Arthralgia
Joint pain
0002829
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Gastrointestinal infarctions
Death of digestive organ tissue due to poor blood supply
0005244
Hematuria
Blood in urine
0000790
Nausea and vomiting
0002017
Purpura
Red or purple spots on the skin
0000979
Pustule
Pimple
0200039
Skin rash
0000988
Vasculitis
Inflammation of blood vessel
0002633
30%-79% of people have these symptoms
Anorexia
0002039
Arthritis
Joint inflammation
0001369
Encephalitis
Brain inflammation
0002383
Erythema
0010783
Fever
0001945
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches

[ more ]

0002076
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Orchitis
Inflammation of testicles
0100796
Skin ulcer
Open skin sore
0200042
5%-29% of people have these symptoms
Angioedema
0100665
Episcleritis
Inflammation of the thin layer on top of the white part of eye
0100534
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Glomerulopathy
0100820
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Macule
Flat, discolored area of skin
0012733
Muscle weakness
Muscular weakness
0001324
Optic atrophy
0000648
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Seizure
0001250
Urticaria
Hives
0001025

Cause

The cause of Henoch-Schonlein purpura (HSP) is not completely understood, but research indicates that genes play a key role in predisposing a person to developing HSP, as well as the severity of HSP in each person.[1] The disease has been most strongly associated with having certain variations of genes in the human leukocyte antigen (HLA) gene family, a cluster of genes that the immune system uses to tell the difference between the body's own substances and foreign invaders.[1] Environmental factors such as recent bacterial or viral infections, food allergies, and medication reactions also may play a role in the onset of HSP in people who are genetically predisposed.[1][4]

Treatment

The vast majority of people with Henoch-Schonlein purpura (HSP) recover on their own within several weeks.[2][5][8] Supportive care until recovery when there is little or no kidney involvement may include adequate hydration, rest, and over-the-counter pain medication as needed for joint and abdominal pain due to inflammation. Swelling of the lower body may improve with bed rest or elevating the affected area of the body. If symptoms of inflammation are severe, prescription pain or anti-inflammatory medication may be needed.[8] Non-steroidal anti-inflammatory drugs (NSAIDs) should not be used in people with impaired kidney function or kidney disease.[9] Rarely, severe gastrointestinal complications require surgery.[3]

The use of glucocorticoids (steroids) in people with HSP has been under debate. While glucocorticoids have been reported to improve symptoms (particularly gastrointestinal symptoms), it is questionable whether they improve the course of the disease, and they may have potentially dangerous side effects (such as masking signs of fever and pain). They generally are not recommended as a means of preventing kidney or gastrointestinal complications.[8]

Hospitalization may be needed for those with dehydration, debilitating abdominal or joint pain (limiting the ability to move around), significant gastrointestinal bleeding, or kidney disease.[8] People with significant kidney involvement or advanced kidney disease may require immunosuppressive medications, hemodialysis, or kidney transplantation.[3][4] While immunosuppressive therapies such as rituximab have shown promising results in initial studies, more studies are needed to determine their safety and effectiveness in people with HSP who have severe kidney involvement and other severe symptoms.[9]

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

        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.
        • 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 Henoch-Schonlein purpura. Click on the link to view a sample search on this topic.

          References

          1. Lopez-Mejias R, Castaneda S, Genre F, et al. Genetics of immunoglobulin-A vasculitis (Henoch-Schönlein purpura): An updated review. Autoimmun Rev. March, 2018; 17(3):301-315. https://www.ncbi.nlm.nih.gov/pubmed/29353097.
          2. Starkebaum GA. Henoch-Schonlein purpura. MedlinePlus. April 24, 2017; https://www.nlm.nih.gov/medlineplus/ency/article/000425.htm.
          3. Henoch-Schonlein Purpura. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). September, 2012; https://www.niddk.nih.gov/health-information/kidney-disease/henoch-schonlein-purpura.
          4. Henoch-Schönlein Purpura. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/henoch-schonlein-purpura/.
          5. Scheinfeld NS. Henoch-Schonlein Purpura. Medscape Reference. January 9, 2018; https://emedicine.medscape.com/article/984105-overview.
          6. Heineke MH, Ballering AV, Jamin A, Ben Mkaddem S, Monteiro RC, Van Egmond M. . New insights in the pathogenesis of immunoglobulin A vasculitis (Henoch-Schönlein purpura). Autoimmun Rev. December, 2017; 16(12):1246-1253. https://www.ncbi.nlm.nih.gov/pubmed/29037908.
          7. Nicoara O, Twombley K. Immunoglobulin A Nephropathy and Immunoglobulin A Vasculitis. Pediatr Clin North Am. February, 2019; 66(1):101-110. https://www.ncbi.nlm.nih.gov/pubmed/30454736.
          8. Dedeoglu F, Kim S. IgA vasculitis (Henoch-Schönlein purpura): Management. UpToDate. Waltham, MA: UpToDate; October 16, 2017; https://www.uptodate.com/contents/iga-vasculitis-henoch-schonlein-purpura-management.
          9. González-Gay MA, López-Mejías R, Pina T, Blanco R, Castañeda S. IgA Vasculitis: Genetics and Clinical and Therapeutic Management. Curr Rheumatol Rep. April 2, 2018; 20(5):24. https://www.ncbi.nlm.nih.gov/pubmed/29611051.

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