Treatment

Right now there is no cure for Atypical HUS - the only reason there is not a standard treatment is because each case is different, but even that may change over time as we help make more discoveries. The short term strategy is to be supportive and educationally reactive to whatever is taking place. Atypical HUS patients are much more likely to develop complications. These complications may be:

  • Recurrence of initial symptoms
  • Kidney failure
  • Seizures, neurological problems or other multi-organ involvement.
  • No response to supportive treatments
  • Return of atypical HUS even after a kidney transplant occurs
  • Severe hypertension (high blood pressure)

What kind of doctor will I need?

Atypical HUS is a very rare disease, so few doctors have experience with treating multiple aHUS cases. Collaboration among specialists is an essential component of any aHUS care team.

Typically, certain specialists primarily will be involved with aHUS cases, although others may be consulted. Nephrologists are experts in kidney diseases. These doctors monitor kidney function, blood pressure, aHUS activity, and dialysis (when necessary). Kidneys are very sensitive organs and care can be complex due to a variety of issues. Nephrologists should be key physicians in aHUS cases and should be heavily involved in treatment and care plans. Hematologists are experts in blood diseases. These doctors closely monitor aHUS activity and its effects on the patient's blood. Sometimes the care team may include an oncologist, a doctor who normally specializes in cancer but may be asked for an opinion regarding various issues associated with aHUS.

Many hospitals place aHUS patients in the care of nephrologists, while other hospitals will refer patients to hematologists. Physicians entrusted with the care of aHUS patients will need to monitor not only blood lab tests and kidney function parameters, but also should act in collaboration with cardiac, neurology, and other specialists. Increasingly, consultations for aHUS patients may include immunologists, as medical professionals become aware that the complement system in aHUS patients is uncontrolled, requiring care teams to jointly address this overactive part of the patient’s immune system.


SHORT-TERM TREATMENT

This involves dealing with the individual’s symptoms on a case-by-case basis. Usually the first line of defense is emply plasma exchange (pheresis, or infusions) to help combat the effect of the defective protein (caused by the mutated gene). Then, the other symptoms are dealt with on an individual basis. These may include:

  • Decreased urine output (rising BUN, increased creatinine)
  • Infections/flu like symptoms
  • Seizures/neurological problems or other multi-organ involvement.
  • Elevated blood pressure
  • Return of atypical HUS even after a kidney transplant occurs
  • Severe hypertension (high blood pressure)

If you need to visit the Emergency Department

Emergency staff typically does not have much experience with HUS patients, especially aHUS. Before leaving the hospital after the initial diagnosis of aHUS, make sure you have an emergency plan in place as part of the aHUS patient’s “care plan.” Often doctors treating aHUS patients will suggest that you CALL YOUR DOCTOR BEFORE HEADING TO YOUR HOSPITAL’S EMERGENCY ROOM. Most doctors treating aHUS patients will have a “direct admit” option, enabling the patient to skip the ER and be directly admitted to the floor that normally handles aHUS treatments and associated care. ALWAYS bring medications with you, since many are specialty medications and often it can take time before the hospital pharmacy can order the medication, have it filled, and deliver it to the floor. NEVER give a medication to a hospital-bound patient without first checking with the patient’s medical staff, as even regularly scheduled medications are sometimes switched due to current or urgent care needs. If you find yourself unexpectedly in the Emergency Department, give a full account of the last aHUS event, treatment, medications, and time spent in the hospital.


LONG-TERM TREATMENT

The good news is that many of the genes involved in the disease have been identified. So it has become much easier to get help locating the genetic root cause of the disease and then determining the appropriate long-term path for you or your loved one. At least one of the genes, MCP, will respond well to a kidney transplant if that treatment proves to be necessary. MCP is a protective coating on the kidneys, and a transplanted kidney will contain that protective coating, so no additional steps are needed. MCP is the root cause of estimated 5% of patients. To this end, the MCP gene diagnosis is a totally separate category from most of the other gene mutations. Most of the other non-MCP genetic mutations do not respond well to a transplant.

The Identified Genes of Atypical HUS are:

  • Factor H
  • Factor H Related 1-3 (Deletions –FHR1)
  • Factor H Related 5
  • Factor I
  • Factor B
  • C3
  • Thrombomodulin
  • MCP