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Atypical Hemolytic Uremic Syndrome (aHUS)

Name of disease:

Atypical Hemolytic Uremic Syndrome

ICD-10 diagnosis code:



Most cases of atypical hemolytic uremic syndrome (aHUS) are associated with genetic causes, and it can run in families. Abnormalities is associated with the mutation of C3, MCP, CFB, CFH, CFHR1-4, CFI, DGKE and THBD gene. In most individuals, aHUS is triggered by an acute infection including chickenpox and influenza infection

Mode of inheritance:

Atypical Hemolytic Uremic Syndrome (aHUS) cases are inherited from parents in autosomal dominant and recessive pattern.


1-9/ 1,000,000


Diagnosis of aHUS is based on family history of the disorder, which distinguishes it from typical hemolytic uremic syndrome. Blood smear and blood test can be performed. The former will show low platelet and red blood cells count while the latter will show broken red blood cells Acute kidney injury should be found based on blood serum test and clinical findings including hematuria (presence of blood in urine)

Age of onset:

From prenatal to adulthood

Common signs and symptoms:

Pale coloring, including the loss of pink color in cheeks and inside lower eyelids Extreme fatigue Shortness of breath Easy bruising or unexplained bruises Unusual bleeding such as bleeding from nose and mouth Decreased urination or blood in urine Swelling or legs, feet, ankles Confusion seizures or stroke High blood pressure

Available treatments (medicinal and non-medicinal):

Medicine eculizumab will be given as first-line therapy after diagnosis of aHUS. For patients who fail to recover kidney function after treatment, a kidney transplant may be required.

Disease management tips:

Due to low platelet count, patients may easily bleed, and wound healing process will be slower. Therefore, patients should avoid activity that increases the risk of injury or trauma. aHUS may be chronic with recurrent episodes of the disorder. Therefore, patients and caregivers should be aware if patients show the symptoms of aHUS again after the first attack aHUS patients are likely to develop chronic serious complications such as hypertension, kidney failure and stroke because tiny blood clots block the blood vessels. Therefore, once patients are aware of the signs and symptoms, they should go for medical check-up at once. For patients who have kidney failure and receive a kidney transplant, it is estimated there is still the recurrence of disease. Therefore, patients should undergo molecular genetic tests to determine the graft prognosis


Other useful websites:

Patient Groups: aHUS Foundation https://www.ahus.org aHUS Alliancehttps://www.ahusallianceaction.org