Atypical Hemolytic Uremic Syndrome (aHUS)

What is Atypical Hemolytic Uremic Syndrome (aHUS)?

Atypical Hemolytic Uremic Syndrome (aHUS) is a rare and serious genetic disorder that affects the small blood vessels (capillaries) in the kidneys. It can also cause serious damage to other organs, including the heart, lungs and brain. The condition causes red blood cells to be broken down (hemolysis), leading to the buildup of toxins in the bloodstream which can damage the kidneys and other organs.

The most common symptoms of aHUS are decreased urine output, blood in the urine, abdominal pain, easy bruising, blood clots in the veins, and high blood pressure. Complications can include kidney failure, stroke, and heart attack.

Diagnosis of aHUS

A physician may diagnose aHUS based on a patient’s medical history and physical examination, as well as blood tests, urine tests, and imaging tests. Blood tests measure the levels of certain proteins and enzymes, which can indicate the presence of aHUS.

Imaging tests such as ultrasound or MRI can also be used to assess changes in the affected organs and to diagnose aHUS. Additionally, a genetic test may be performed to identify genetic mutations associated with aHUS.

Treatment of aHUS

Currently, there is no definitive cure for aHUS; however, treatment can help prevent the disease from progressing or worsening. Treatment includes:

• Medication: blood pressure medication, diuretics, steroids, and antiviral medications may be used to treat the symptoms of aHUS.
• Dialysis: Dialysis may be used to remove toxins from the bloodstream if kidney failure occurs.
• Blood transfusions and plasmapheresis: Blood transfusions and plasmapheresis, a procedure to filter the plasma out of the blood, may be used to remove toxins from the bloodstream.
• Gene therapy: Gene therapy is a new treatment that can correct the genetic defects that cause aHUS.

The importance of early diagnosis and treatment

It is important to recognize the symptoms of aHUS and seek medical attention. Early diagnosis and treatment are essential to prevent further damage to organs and improve the prognosis for aHUS.