Understanding your atypical-HUS
Living with atypical-HUS can be overwhelming, but you can manage it. Learning about atypical-HUS is a great place to start. Read the information below to find out how atypical-HUS affects the body.
For treatment of atypical-HUS in adults and children 1 month of age and older. Not used in treating people with STEC-HUS.
Atypical- HUS and C5 What is atypical‑HUS?
Atypical hemolytic uremic syndrome (atypical-HUS) is a rare disease that affects 1 to 2 people out of every 1 million Americans. Anyone can have atypical-HUS—women or men, adults or children. Atypical-HUS is caused by a loss of the body’s ability to control activation of the complement system, which is sometimes the result of a genetic mutation. The complement system is a group of proteins found in the blood and is part of the immune system.
Complement protein 5 (C5), one member of the complement system, plays an important role in helping your body destroy foreign or damaged cells. Normally, control mechanisms in your body keep C5 and other complement proteins from attacking healthy cells.
In atypical-HUS, these control mechanisms fail, and uncontrolled C5 activity begins to cause damage to healthy cells.
Normally functioning complement system
Abnormally functioning complement system
TMA Damage from uncontrolled complement activity can lead to TMA
When you have atypical-HUS, uncontrolled complement activity can result in damage to blood vessels and can cause platelets to become overactive.
Overactive platelets can lead to thrombotic microangiopathy (TMA), a condition in which blood clots block the flow of blood within small blood vessels, ultimately causing vital organs to either suddenly fail or lose their ability to function over time.
Overactive platelets stick together to form clots. Red blood cells build up in the clots, and those that pass through become torn or destroyed and are called schistocytes.
In atypical‑HUS, the risk of TMA complications is lifelong. Onset of atypical-HUS can be sudden or gradual, life-threatening, and can occur at any age. This reduced blood flow due to TMA is what leads to the organ damage seen in atypical-HUS.
Triggers Triggers that may accelerate activation of the complement system
Uncontrolled complement activity and TMA can be triggered by many different causes such as infection, pregnancy, or transplantation. When you have atypical-HUS, experiencing a trigger can rapidly increase complement activity, revealing hidden problems with how the body usually keeps complement under control. In fact, in most cases, the disease may not have any overt signs or symptoms until a trigger occurs.
Malignant hypertension (high blood pressure that damages organs)
Autoimmune disease (body attacks itself)
Glomerulonephritis (inflammation within the kidneys)
Surgery or trauma
Signs and symptoms What are the signs and symptoms of atypical-HUS?
People with atypical-HUS may experience symptoms suddenly, without warning signs. The signs and symptoms of TMA are varied and may include:
Tiny purple, red, or brown spots on the skin, bruising, prolonged bleeding, blood in urine or stool, other abnormal bleeding, headaches
Fatigue, dyspnea (trouble breathing), dark urine, back pain, jaundice (yellowing of the skin due to liver problems) or paleness, blood clots, stroke, heart attack
Listlessness, confusion, weight loss, nausea, vomiting, weight gain, swelling of body parts, abnormally low urine output, uremic encephalopathy (brain complications due to toxins that are normally cleared by the kidneys)
For people with atypical-HUS
49% progress to end-stage kidney disease 5 years after diagnosis:
- elevated creatinine (muscle breakdown waste product)
- decreased estimated glomerular filtration rate (eGFR)
- proteinuria (excess protein in the urine)
Up to 25% have neurologic symptoms, including:
- encephalopathy (brain disease)
Up to 33% have cardiovascular symptoms, including:
- arterial thrombosis (blood clots in arteries)
- vascular stenosis (blood vessel narrowing)
- hypertension (high blood pressure)
- cardiomyopathy (heart disease)
- myocardial infarction (heart attack)
Up to 47% experience gastrointestinal symptoms, including:
- colitis (inflammation of the colon)
- abdominal pain
- pancreatitis (inflammation of the pancreas)
- gastroenteritis (intestinal infection)
I certainly didn’t expect to find myself in the ER…[hearing] ‘You blew out your kidneys,’ like a proverbial ton of bricks. I was 25.—Dana VA, diagnosed in 2012
Diagnosis How is atypical-HUS diagnosed?
The first step to diagnosing atypical-HUS is recognizing that your initial symptoms are due to TMA. Your doctor will perform laboratory tests to confirm a diagnosis of TMA.
Some laboratory tests that may confirm TMA
- Measures the amount of platelets in the blood
- Abnormally low in patients with atypical-HUS
- LDH is released from cells being destroyed, for example in hemolysis (rupturing of red blood cells)
- Abnormally high in patients with atypical-HUS
- Creatinine or estimated glomerular filtration rate (eGFR)
- Abnormally high (creatinine) or low (eGFR) in patients with atypical-HUS
For caregivers of children
The first step in caring for a child with atypical-HUS will likely be to start to build a partnership with the health care team, including doctors, nurses, and other staff.
The tests listed above are just some that your child’s doctor might order. There may be others. You and your loved ones should work closely with your health care team to gain an understanding of the tests performed and the meaning of the test results.
The diagnostic process
Diagnosing atypical-HUS can be challenging because it is a rare disorder.
TMA is also commonly seen in patients with other conditions such as Shiga toxin-producing E. coli (STEC-HUS) or thrombotic thrombocytopenic purpura (TTP), an overactive clotting and low platelet condition. To get an atypical-HUS diagnosis, other causes of TMA have to be ruled out. Your doctor will perform laboratory tests to determine the cause of your TMA.
I’ve ridden the roller coaster of a rare disease through setback and breakthrough—dialysis, rejected kidney transplants, misdiagnosis, and finally accurate diagnosis of atypical-HUS.—Dana VA, diagnosed in 2012
IMPORTANT SAFETY INFORMATION INCLUDING BOXED WARNING
ULTOMIRIS is a medicine that affects your immune system and can lower the ability of your immune system to fight infections.
- ULTOMIRIS increases your chance of getting serious and life-threatening meningococcal infections that may quickly become life-threatening and cause death if not recognized and treated early.
- You must receive meningococcal vaccines at least 2 weeks before your first dose of ULTOMIRIS if you are not vaccinated.
- If your doctor decided that urgent treatment with ULTOMIRIS is needed, you should receive meningococcal vaccination as soon as possible.
- If you have not been vaccinated and ULTOMIRIS therapy must be initiated immediately, you should also receive 2 weeks of antibiotics with your vaccinations.
- If you had a meningococcal vaccine in the past, you might need additional vaccination. Your doctor will decide if you need additional vaccination.
- Meningococcal vaccines reduce but do not prevent all meningococcal infections. Call your doctor or get emergency medical care right away if you get any of these signs and symptoms of a meningococcal infection: headache with nausea or vomiting, headache and fever, headache with a stiff neck or stiff back, fever, fever and a rash, confusion, muscle aches with flu-like symptoms and eyes sensitive to light.
Your doctor will give you a Patient Safety Card about the risk of meningococcal infection. Carry it with you at all times during treatment and for 8 months after your last ULTOMIRIS dose. It is important to show this card to any doctor or nurse to help them diagnose and treat you quickly.
ULTOMIRIS is only available through a program called the ULTOMIRIS REMS. Before you can receive ULTOMIRIS, your doctor must: enroll in the ULTOMIRIS REMS program; counsel you about the risk of meningococcal infection; give you information and a Patient Safety Card about the symptoms and your risk of meningococcal infection (as discussed above); and make sure that you are vaccinated with a meningococcal vaccine, and if needed, get revaccinated with the meningococcal vaccine. Ask your doctor if you are not sure if you need to be revaccinated.
ULTOMIRIS may also increase the risk of other types of serious infections. Make sure your child receives vaccinations against Streptococcus pneumoniae and Haemophilis influenzae type b (Hib) if treated with ULTOMIRIS. Call your doctor right away if you have any new signs or symptoms of infection.
Who should not receive ULTOMIRIS?
Do not receive ULTOMIRIS if you have a meningococcal infection or have not been vaccinated against meningococcal infection unless your doctor decides that urgent treatment with ULTOMIRIS is needed.
Before you receive ULTOMIRIS, tell your doctor about all of your medical conditions, including if you: have an infection or fever, are pregnant or plan to become pregnant, and are breastfeeding or plan to breastfeed. It is not known if ULTOMIRIS will harm your unborn baby or if it passes into your breast milk. You should not breastfeed during treatment and for 8 months after your final dose of ULTOMIRIS.
Tell your doctor about all the vaccines you receive and medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements which could affect your treatment.
If you have aHUS, your doctor will need to monitor you closely for at least 12 months after stopping treatment for signs of worsening aHUS or problems related to a type of abnormal clotting and breakdown of your red blood cells called thrombotic microangiopathy (TMA). Symptoms or problems that can happen with TMA may include: confusion or loss of consciousness, seizures, chest pain (angina), difficulty breathing and blood clots or stroke.
What are the possible side effects of ULTOMIRIS?
ULTOMIRIS can cause serious side effects including infusion-related reactions. Symptoms of an infusion-related reaction with ULTOMIRIS may include lower back pain, pain with the infusion, feeling faint or discomfort in your arms or legs. Tell your doctor or nurse right away if you develop these symptoms, or any other symptoms during your ULTOMIRIS infusion that may mean you are having a serious infusion reaction, including: chest pain, trouble breathing or shortness of breath, swelling of your face, tongue, or throat, and feel faint or pass out.
The most common side effects of ULTOMIRIS in people with aHUS are upper respiratory infection, diarrhea, nausea, vomiting, headache, high blood pressure and fever.
Tell your doctor about any side effect that bothers you or that does not go away. These are not all the possible side effects of ULTOMIRIS. For more information, ask your doctor or pharmacist. Call your doctor right away if you miss an ULTOMIRIS infusion or for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.
What is ULTOMIRIS?
ULTOMIRIS is a prescription medicine used to treat adults and children 1 month of age and older with a disease called atypical Hemolytic Uremic Syndrome (aHUS). ULTOMIRIS is not used in treating people with Shiga toxin E. coli related hemolytic uremic syndrome (STEC-HUS).
It is not known if ULTOMIRIS is safe and effective in children younger than 1 month of age.