Anaemias

Anaemias list

Atypical hemolytic uremic syndrome

General info

ORPHANET code:
2134
ICD-10 code:
D58.8
Group:
Acquired hemolytic anemia
  • What causes the disease and how common is it?

    Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening, genetic disease. aHUS can damage vital organs such as the kidneys, heart and brain Although aHUS does affect children, almost one-half of people affected are adults. aHUS results from changes, or mutations in the genes that produce proteins that help control the complement system which is part of your body's natural immune defense system. When the complement system is uncontrolled, it can attack the body it normally protects. As a result, aHUS can do great damage to vital organs if it is left undiagnosed and untreated.

  • What are the most frequent symptoms if I have the disease?

    Some of the signs and symptoms of aHUS include: confusion; diarrhea, nausea and vomiting; shortness of breath; fatigue; heart symptoms and kidney symptoms. Certain lab tests can help your doctor determine if you may have aHUS. In particular, he or she can look at your red blood cell and platelet counts to see if they are low. Creatinine levels can be measured to see how well your kidneys are working. Although aHUS is a genetic disease, testing for specific genes is not necessary for your doctor to diagnose and treat aHUS. The ADAMTS13 laboratory test can help differentiate aHUS from other diseases.

  • Which treatment must I follow if I have the disease?

    Plasma exchange or plasma infusion is sometimes used by doctors to manage aHUS. During this process a plasma infusion is given over several hours at a specialized treatment center However, plasma does not treat the underlying disease and no clinical studies have shown that plasma exchange therapy is safe or effective in treating aHUS. Plasma exchange/infusion is not a cure and symptoms may return over time. Dialysis or a kidney transplant may be needed for aHUS patients as a result of the damage caused by the disease. However, dialysis and kidney transplants have significant risks associated with them, and neither will actually treat or cure aHUS. As the understanding of the underlying causes of rare diseases such as aHUS has improved, researchers are finding new, more effective and safer treatments. Talk with your doctor about a management plan that works for you and contains frequent follow-up or monitoring of your rare disease.

  • What is the risk of passing the condition on to my children?

    Here you will find guides to help you and your doctor work together on managing aHUS, whether you're new to the disease or currently being treated for aHUS by a nephrologist, hematologist, or your primary care physician. - See more at:

    http://www.ahussource.com/Patient/Doctor-Discussion-Guide#sthash.2G5Orrdt.dpuf

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