A Patient's and Caregiver's Perspective: aHUS BOOTCAMP
A Diagnosis of Atypical HUS – Now What? (2013)
by Linda Burke, Cheryl Biermann, and Jodi Kayler
Click Here for MEDICAL Overview - provided by the NIH GeneReview
Vague but undeniable symptoms, such as extreme fatigue, puffiness, vomiting, paleness, or unexplained fever have led to a visit to the doctor’s office or to your local hospital. Perhaps there have been a few days of swelling starting to appear, accompanied by dark or strong smelling urine. Any normal appetite may have completely vanished and proper nutrition has started to be an ongoing struggle. Newly armed with a medical diagnosis of atypical hemolytic uremic syndrome, you are beginning to hear medical terms such as hemolysis, blood test panels, platelet counts, kidney function tests, and protein in the urine! What does it all really mean?
Types of Hemolytic Uremic Syndrome
Hemolytic Uremic Syndrome (HUS) describes clinical scenarios in which patients have microangiopathic hemolysis, decreased platelet count, and organ damage and failure. There are two types of HUS: typical HUS (caused by E coli or other food/water borne pathogens) and atypical HUS (usually a genetic mutation but sometimes triggered by other illnesses or unknown causes).
HUS (Typical HUS)
Typical HUS (aka, Shiga-toxin–producing E. coli hemolytic uremic syndrome, or STEC-HUS) is an acquired illness resulting from exposure to E. coli bacteria or other food-borne pathogens or contaminated water, which often presents as bloody diarrhea. Triggers can range from exposure to animal fecal matter at a farm or park to those illnesses related to eating contaminated foods, such as uncooked hamburger or another unsafe food source. Such toxins can cause an immune system response that causes hemolysis (red blood cell destruction) and kidney failure, as well as damage to other body systems. In typical HUS, most cases will not occur again after the initial onset (typically lasting 4 to 6 weeks). Cases vary widely in impact and outcome, with reports ranging from complete recovery to death, but many experience some degree of long-term kidney damage, long-term neurological complications, and ongoing issues with high blood pressure. This more common type of HUS is usually related to a single event, often traceable via group exposure that affected multiple patients, and their HUS episode will not come back to make the patient ill again.
People with aHUS are born with this genetic disease and have a lifelong risk of having their genetic condition suddenly become active with life-threatening complications. Atypical HUS occurs because of a patient’s abnormal genes at birth, and while certain conditions such as bacterial or viral exposure might be among suspected triggers, genetic mutations are the underlying cause whether the mutations are identified by genetic screening or whether the genetic tests are inconclusive. Atypical HUS is unpredictable and varies greatly in episode length, frequency of events, and severity from patient to patient. Some aHUS patients will have intermittent signs and symptoms, while others have chronic symptoms on a daily basis. Some aHUS events occur with rapid and devastating consequences. Historically, due to limited treatment options, the outlook for patients was poor as life-threatening thromboses (blood clots) could recur and could be fatal.
Atypical HUS is a rare, chronic disease in which uncontrolled complement activation causes blood clots (thrombotic microangiopathy, or TMA) in small blood vessels throughout the body. It affects various organs, including the kidneys, heart, lungs, brain, and gastrointestinal systems. The complement system is part of the human immune system, which normally helps (or complements) our ability to fight illness by attacking any foreign or invading cells. Controlled by a group of genes, our complement system is usually regulated by proteins that prevent it from becoming overactive. In aHUS, certain complement proteins are missing or not working properly, prompting the medical terms “complement dysregulation” or “complement-mediated” disease.
Genetic screening can be conducted to identify the patient’s mutation, but approximately 30% to 50% of aHUS patients will not have an identified genetic mutation (such as factor H, factor I, membrane cofactor protein, etc), and a diagnosis of aHUS is not dependent on results of genetic tests. A disease is classified as “rare” if it affects fewer than 500 patients per million population, but aHUS bears the “ultra rare” designation reserved for diseases that affect less than 20 per million people. To put this into perspective, according to the United States Census Bureau as of April 2012, with America’s population of 312.8 million people, the number of patients with aHUS would be fewer than 625; with the world population estimated to be 7 billion, the number of patients with aHUS worldwide is estimated to be fewer than 140,000.
Diagnosing HUS, aHUS, or TTP
Doctors can perform certain tests to help diagnose HUS and aHUS. Both HUS and aHUS share some signs and symptoms with another disease called thrombotic thrombocytopenic purpura (TTP), which has a different underlying cause. Doctors can measure levels of a certain protein in the blood, ADAMTS13, which may help clarify whether a patient has aHUS or TTP. The physician will need to rely on signs, symptoms, lab tests, and frequent visits to determine care and treatment for patients suspected of any of these potentially life-threatening diseases.
What Happens to the Body During AHUS Activity?
Normally, red blood cells, or RBCs, have several important roles to play in our bodies, but their main function is to carry oxygen around the body from the lungs to our tissues and organs. Healthy kidneys produce a hormone called erythropoietin, or EPO, which stimulates a person’s bone marrow to create the proper number of red blood cells to transport this oxygen supply.
In a patient with aHUS, the patient’s body loses the ability to control his or her complement system, cells along the blood vessel walls are damaged, and platelets start abnormal clotting with inflammation that causes various problems throughout the body. Red blood cells shatter during active aHUS episodes, a breakage process that occurs as the cells flow through damaged small blood vessels. As red blood cells break apart (hemolysis) and these cell fragments (schistocytes) travel to the kidneys, tiny microscopic clots are created and the patient’s platelet count may decrease.
Destruction of red blood cells causes a cascade of effects as the patient can experience severe anemia and damage to vital organs, often involving a degree of kidney damage. Low red blood cell counts (anemia) mean oxygen isn’t transported as well around the body, so tissues and organs, particularly the heart and brain, may not do their jobs very efficiently. For this reason, an aHUS patient who has anemia may tire easily and look pale.
If the aHUS patient’s kidneys fail to work properly, the body cannot rid itself of toxins, so urine output declines and lab tests may indicate an increased amount of protein in the urine. Poorly functioning kidneys may also lead to high blood pressure and fluid overload or swelling, which can stress the heart and lungs. If microscopic clots develop in the brain, aHUS patients may experience neurologic complications, such as confusion or seizure activity. Treatment will be determined by lab test results, so expect blood or urine tests to be ordered by your doctor and the test results to be discussed with you; complete blood cell count (CBC), complete metabolic panel (CMP), and lactate dehydrogenase (LDH) levels are lab tests commonly ordered.
While organs such as the heart, lungs, gastrointestinal system, and brain may be affected during an active aHUS episode, new information about multi-organ involvement is just becoming available to aHUS researchers and physicians. About 48% of patients experience neurological problems, such as stroke or seizure activity. About 43% of aHUS patients experience problems with their heart or cardiovascular system, such as damaged blood vessels or high blood pressure. Complications affecting the aHUS patient’s gastrointestinal system may include inflammation, abdominal pain, or liver damage as the damage to small blood vessels throughout the body builds up over time. Currently, no specific lab tests exist to determine aHUS damage to other organ systems (such biomarkers are currently in development); however, doctors can monitor the disease by monitoring blood tests and kidney function with conventional labs, and some issues with cardiac and other systems may be gauged through other methods such as an X-rays or biopsy.
About the Doctors
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 disease 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.
The management of aHUS may vary. There is NO standard “treatment protocol” as is common with the treatment of many diseases. Due to the complexity and variability of aHUS symptoms, expect that physicians may try one or more of the options below and will monitor lab results to determine the degree of the treatment’s effectiveness. Some patients respond well to one treatment type, while others may need to try various options. Blood samples drawn from the aHUS patient yield the critical keys that determine treatment type and frequency.
Plasma exchange and plasma infusion (see below) have traditionally served as first steps to stabilize an aHUS patient, but neither treats the underlying cause of aHUS activity. Some aHUS patients who do not respond to plasma therapy may respond to treatments that target the immune system. Sometimes intravenous immunoglobulin (IVIG) is used in conjunction with, or instead of, plasma products. IVIG is a man-made blood product that can help to regulate the immune system. Steroids, such as prednisone, are also sometimes utilized, but can lead to increased blood pressure in patients and should be used only under very close medical care. Due to the ongoing nature of the disease process and subsequent damage to the kidneys and throughout the body, most aHUS patients may need some kind or combination of blood pressure medication. Managing high blood pressure (hypertension) is critical to keep the heart and kidneys from being stressed.
Blood transfusions: Many aHUS patients are admitted to the hospital with lab tests indicating low red blood cell and platelet counts, so often a blood product transfusion is deemed necessary by the physician. Depending on the doctor's decision, a patient may receive packed red blood cells, whole blood, and/or platelets in order to stabilize his or her current situation. These products help to return the blood to a more normal level for a brief period of time but do not treat the underlying disease. When blood products are given, doctors have to closely manage fluid levels in the body. If the aHUS patient’s kidneys are not working properly, the extra fluid can cause serious issues with the heart and lungs.
Plasma therapies such as plasmapheresis (also known as plasma exchange, apheresis, or pheresis) and plasma infusion: Plasma therapy traditionally has been ordered to stabilize patients with aHUS, though it does not treat the cause of aHUS and is not a cure for the disease. By transfusing fresh frozen plasma (FFP) from a healthy donor into an aHUS patient in the process known as plasma infusion, the infusion is supplementing chemical compounds found to be low or absent in the patient's body. Plasma is the liquid component of the blood that transports the cells (red and white blood cells, as well as platelets) and also carries various chemical compounds throughout the body. Plasma can be thought of as "the glue that holds the blood together and prevents the blood from shattering." Some aHUS cases do not respond to plasma infusion, or patients may have complications due to adding the extra volume of fluid, so plasmapheresis is often indicated as the next option of plasma therapy. Plasmapheresis utilizes a special pheresis machine to filter out all of the body's original plasma, replacing it with plasma from a healthy blood donor. In smaller aHUS patients, because their total blood volume is lower, they may also require adding a donor unit of packed red blood cells. In order to receive plasmapheresis, patients will require the surgical placement of an implanted catheter, also known as a “central line.” Keeping the central line dry and sterile is of utmost importance. Patients with certain genetic mutations seem to have a somewhat better response to plasma therapies, but none of the plasma therapies are a cure and aHUS activity may return over time. Plasma therapy is invasive and may lead to major complications, including death, non-fatal cardiac arrest, systemic infection, hypotension requiring vasopressor treatment, and thrombosis in 28% of patients. The rate of safety issues is particularly high in children receiving apheresis procedures.
Soliris® (generic name: eculizumab)
A recent development in aHUS treatment was the FDA approval in September 2011 of Soliris (eculizumab), a “first-in-class” complement inhibitor approved for treatment of adults and children with aHUS. Made by Alexion Pharmaceuticals (Cheshire, CT), Soliris is an intravenous (IV) drug approved by FDA to prevent hemolysis (red blood cell destruction) in aHUS patients. Soliris targets the cause of the disease, which is over-activation of complement proteins.
In clinical trials, Soliris inhibited complement and reduced the blood clots that damage blood vessels, kidneys, and other organs in patients with aHUS. Proper diagnosis of aHUS and early intervention with Soliris therapy can maintain or may restore kidney function, preventing possible long-term damage to the kidneys. For more information, visit our Web site's Soliris Forum at http://atypicalhus.ning.com/forum/topics/soliris-1.
Alexion Pharmaceuticals sponsors Web sites at www.ahussource.com and www.soliris.net. Patients and physicians seeking detailed information about this drug may contact the company directly at 1-888-SOLIRIS.
Venous Access Choices
Accessing a patient's veins for treatment can be one of the most stressful times for aHUS patients and their families. In order to treat the disease, doctors must have quality intravenous (IV) lines to use for direct access to the patient’s bloodstream. There are a large variety of IV lines, and while the standard “in-arm” IV line might be familiar to most people, the type of aHUS treatments and the frequent lab tests to monitor patient blood levels/health require a longer-term solution. Instead of a common arm IV access, most aHUS patients instead have access points such as a PICC (peripherally inserted central catheter) line or one of the longer-term choices that are classified as “central lines.” Medical staff can review appropriate options for the aHUS patient, with central line options that might include a port-a-cath (under the skin) or a Broviack or Tessio line (external, with a dressing that needs to be dry and sterile). No matter the type of bloodstream access, it is imperative that STERILE PROCEDURES are implemented each and every time the line is accessed or de-accessed. A line infection can be life-threatening.
Plasma infusions can be done with the familiar vein prick and common arm IV line. This is the least invasive option, but be aware that nursing staff will often be directed to “pack” this with heparin, an anticoagulant commonly used to prolong the duration of catheter patency, to maintain a fully functional IV access for a period of time from hours to days. Keep an eye out for swelling, bruising, or site pain and notify medical staff at the appearance of any one of these warning signs as they could indicate a serious side effect associated with heparin. Other access choices will require surgery to implant a “central line” device to allow longer-term or specialized treatment access to the patient’s blood stream. For example, plasmapheresis treatments remove (then discard) the aHUS patient’s plasma from their blood and replace it with plasma from a healthy blood donor. This treatment requires a central line that has TWO lumens (capped ends), one for blood flow out of the patient and the second to return blood flow back to the patient using a specialized plasmapheresis machine. Prior to central line surgery, your doctor or nursing staff should be able to show you a “teaching board” display so that you can see the intended device pre-surgery and understand its benefit/need. Some doctors do have a preferred method or implant, but lab values such as CBC LDH (a chemical marker of degree of aHUS activity) and CMP often focus a physician’s choice of central line and treatment.
Lab Tests (Blood Work)
Lab results can be confusing to patients and family members when discussing a new diagnosis of aHUS. Ask a lot of questions! It is vitally important that you understand the basic lab panels – you are the first in the “line of care” for yourself or your loved one and may often be called upon to give brief medical histories to medical personnel. Treatment options and frequency (more treatments, spacing out treatments, moving from plasma infusions to plasmapheresis, considering Soliris infusions) are choices that depend on trends seen in lab values in addition to the patient’s symptoms and ability to tolerate the chosen therapy.
The following are common lab tests ordered for aHUS patients. It is important for you to know whether the specific lab test is trending up or down or has stabilized from each lab draw to the next. Keeping a log, diary, or paper copy of lab values is helpful to many aHUS patients and their families.
Hemoglobin, hematocrit (’Crit): Together, these are the “H&H”; along with the red blood cell count, they relate to the ability of the patient’s blood to carry oxygen throughout the body. Higher lab values within the normal range are better since low numbers can indicate anemia, which may result in feeling tired or fatigued. If the patient has a low red blood cell count, doctors may choose to add a medication that can promote increased red blood cell production, such as erythropoietin (aka, “epo”) or a similar time-release drug called Aranesp® (darbepoetin alfa).
Platelets are cell fragments that help in the clotting process. If a patient has a low platelet count, their skin may more easily bruise, so black and blue marks should be reported to the medical team.
White blood cells (WBCs) are cells of the immune system involved in defending the body against infection. A high white blood cell count can mean that there is an infection.
Lactate dehydrogenase (LDH) is a chemical marker of aHUS disease activity, so a high number or upward trend usually means that the aHUS episode is worsening (“ramping up”), so treatment may need to be more aggressive.
Haptoglobin is another marker of hemolysis (the rupturing of red blood cells). When red blood cells break down, they release hemoglobin into the bloodstream. The hemoglobin combines with a chemical called haptoglobin. A low level of haptoglobin in the bloodstream is another indicator of active HUS.
Creatinine level indicates kidney function and is another vital laboratory value to monitor. Low creatinine numbers indicate that toxins are effectively being eliminated from the body through the kidney’s production of urine. High creatinine levels mean that the kidneys are not functioning properly and that toxins can build up in the body to dangerous levels. In end-stage renal disease (ESRD), the kidneys stop clearing toxins through urine output, so dialysis is needed to remove fatal levels of toxins from the patient’s body. Protein in the urine is another measurement of kidney function, as poorly functioning kidneys spill out too much protein.
Blood urea nitrogen (BUN) is a measurement of kidney function. It may also be impacted by how well hydrated a patient is and is an indicator of the kidney’s ability to keep body fluid levels normal. Lower BUN values are the desired trend.
Common Kidney Lingo
Medical terms are important to know as they help an aHUS patient understand his or her condition and treatment plan, so be sure to ask when an unknown term crops up in conversation or on medical history reports. Often these terms can help you understand whether the situation is improving, worsening, or remaining stable, and understanding these terms as they relate to the patient’s blood work is essential to assessing the risk of kidney failure.
The Renal Diet: The renal or kidney diet helps patients reduce the amount of waste products produced, which lessens the workload of the kidneys. It is important to note that there is NO single “kidney diet” you can utilize from an online resource, as diets are tailored to each patient’s kidney function and overall health. Most kidney-friendly diets limit potassium, phosphorus, and sodium intake to varying degrees, but the patient’s doctor will often arrange a consultation with a nutritionist or dietician to ensure a personalized dietary plan is put in place that works in conjunction with the aHUS patient’s treatments and medications.
Chronic kidney disease (CKD): Chronic kidney disease is a progressive loss of kidney function over months or years and is often noted in 5 stages, ranging from slightly diminished function (Stage 1) to severely impaired function (Stage 5). Chronic kidney disease is diagnosed using blood tests such as serum creatinine and blood urea nitrogen (BUN), as well as other measures of kidney function such as the creatinine clearance rate and the estimated glomerular filtration rate (eGFR).
End-stage renal disease (ESRD; also known as Stage 5 CKD): Progression to ESRD means that the kidneys can no longer effectively clear waste products and water from the body. At this stage, key discussion points for the patient, family, and healthcare providers will include options for renal replacement therapy, including maintenance dialysis or renal transplantation.
Uremia: As kidney function deteriorates and the body is less able to clear water and waste products, toxins can build up in the body causing uremia. Symptoms may include weakness, fatigue, nausea, vomiting, itching of the skin, muscle cramps, joint aches and pains, blurred vision, and sleep problems.
Dialysis: When a patient is in ESRD, discussions about dialysis should occur in the event of progression to the last stage, commonly called “kidney failure” or renal failure. When kidney function fails, they can no longer perform their primary, life-sustaining function of removing water and waste from the body. Diet, treatment center availability, family circumstances, and lifestyle are among the primary considerations when dialysis becomes necessary to artificially do the kidneys’ job.
Hemodialysis (blood stream access; aka, “hemo”) and peritoneal dialysis (solution exchange in the abdomen; aka, “PD”): Both hemodialysis and peritoneal dialysis require access points that are made surgically. Both methods have their positive points, and dialysis choices will vary according to the aHUS patient’s situation and lifestyle choices.
Going Home – aHUS Follow-up Lab Tests
Atypical HUS is characterized by repeated relapses, which can cause severe damage to vital organs, even though visible disease symptoms may be difficult to see at the onset of the disease. At the time of initial diagnosis, an aHUS patient will likely be hospitalized from weeks to months in order to closely monitor his or her condition, to consider and implement an effective treatment plan, and to assess both the variability and complexity of aHUS involvement. When the doctors feel the patient is healthy enough, they will begin to train the patient or parent in all aspects of home care and will set a care plan that includes follow-up appointments, lab work, and treatments.
Patient monitoring is particularly difficult because of the complexity, severity, and variability of the disease. A patient’s symptoms may also vary over time. Frequent lab tests can detect another episode before the patient experiences symptoms and can indicate the need for rapid treatment to protect kidney function during a relapse. Do not wait for distinct and pronounced symptoms, as often the only warnings will be a bit of tiredness, bruising, or perhaps vomiting. BE VERY PROACTIVE; ask for labs to be drawn at the first hint of any health or behavioral issues. Lab tests can often show aHUS activity BEFORE symptoms occur; do not wait for a follow-up or next scheduled appointment! Every aHUS patient is different, and no one can predict the disease’s course, so the most important goal is to aggressively monitor and treat patients in order to maintain the patient’s kidney function.
Going to the Emergency Room
The Emergency Room (ER) 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 ER, give a full account of the last aHUS event, treatment, medications, and time spent in the hospital. Consider a “grab-and-go” folder to bring along with you; it should include a letter from your doctor, a copy of recent labs, a list of medicines and their dosage regimens, and other helpful details about your disease. Visit our Grab N Go Tool Kit for forms.
Doctor Experience with aHUS
As you browse through the forums of our interactive Web site, you will note that longer battles with aHUS activity seem linked to more complications for the patient. Every attack can be potentially life-threatening and repeat episodes of aHUS erode a patient’s kidney function. We recommend that you talk extensively with your doctor or care team about all aspects of aHUS, referring family members and medical personnel alike to both www.atypicalhus.org (our interactive site) and to www.atypicalhus.net (our site for medical details). The home page of our interactive site has a “Doc to Doc Directory” so that your physicians can speak directly with other doctors who have volunteered to share their experience with treatment of aHUS patients. Thanks to this free service, physicians worldwide can connect and tap into the most current information and expert opinions regarding aHUS.
When a patient becomes stable, his or her doctor may send blood samples for genetic testing to a specialized lab. In America, the primary genetic testing facility for aHUS patients is at the University of Iowa (see **GENETIC TESTING – SCREENING FOR AHUS** below). Under the direction of Dr. Richard Smith, Molecular Otolaryngology Research Laboratories (MORL) staff currently does the most comprehensive genetic testing available for this disease. One or more genetic abnormalities may be discovered through genetic testing, although about 50% of aHUS screening results come back as being of unknown cause (idiopathic). Since genetics is a rapidly changing field, we strongly suggest that you monitor aHUS advancements on a regular basis.
Offering Information and Insight
The Foundation for Children with Atypical HUS welcomes you into a supportive network of patients, family, friends, and researchers who truly care about the people dealing with the many medical challenges and emotional issues facing aHUS families. We are here for you…
Note: This article is offered as an overview of aHUS to give you a base of knowledge as you begin your journey; the parents writing this article are NOT trained medical professionals. CONSULT YOUR DOCTOR regarding the details of your case, since we have only covered a few basic areas and the field of aHUS deals with complex information that changes rapidly with new research.
aHUS Bootcamp: Revised by L. Burke, October 2013
Helpful Links for aHUS Patients and Their Families
Resources can be scattered, taking time and much effort - so we've developed a helpful list of resources across America to help you in your search for information. Compiled are lists from professional medical organizations, caregiver support networks, charitable organizations, genetics info, insurance assistance, and much more! Hundreds of resource links in one place, vist our Rare Disease Resource List as your first stop to reliable, useful information. If you have a great state or national link you think others should know, please contact Linda@atypicalhus.org .
While aHUS is a highly variable, complex, and rare disorder, you may wish to explore some of the Web sites below to obtain further information. For those wishing to utilize these in languages other than English, we suggest you use a “whole document” translator such as the “Translate this Web page” function, a free service at Babelfish http://babelfish.yahoo.com/ and other providers.
Safety Note: There's a new twist on medical alert bracelets, with the novel addition of a USB drive to new items such as medical alert zipper pulls and watches. Parents and caregivers can now document (and continually update on their home computer) medication dosages, care plans, and assorted information that they deem appropriate. The link to a basic informational blog is http://www.atypicalhus.org/profiles/blogs/medic-alert-jewelry-goes-high
Atypical Hemolytic-Uremic Syndrome, GeneReviews, NCBI Bookshelf. A detailed overview of aHUS, some refer to this medically rich article as the "Book". http://www.ncbi.nlm.nih.gov/books/NBK1367/
An excellent, brief overview is: http://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome
MedlinePlus Medical Encyclopedia, a service of the U.S. National Library of Medicine and the National Institutes of Health (NIH), offers detailed information on lab test values commonly used for monitoring the status of aHUS patients. Begin with the Complete Metabolic Panel (CMP).
http://www.nlm.nih.gov/medlineplus/ency/article/003468.htm to access info on lab subtests and values, then use their Search Bar to locate other lab tests (CBC, LDH, etc).
The aHUS Center of Excellence - The overarching objective of the University of Iowa Pediatric Nephrology Center of Excellence is to improve the healthcare of patients with atypical Hemolytic Uremic Syndrome (aHUS) and other aHUS-like diseases through a collaborative effort focused on the presentation, rapid diagnosis, underlying genetics and pathophysiology of aHUS.
For a compilation of aHUS research and journal articles, check the Research Forum on the interactive Web site: http://atypicalhus.ning.com/forum/topics/current-research
(eg, aHUS Research article: Remuzzi G, Noris M. N Engl J Med. 2009;361(17):1676-1687; http://www.sepeap.org/archivos/pdf/11189.pdf)
The aHUS Clinical Channel: Informational videos that offer valuable, detailed information about atypical HUS. http://www.youtube.com/user/aHUSclinical
Our aHUS Flyer is a helpful single sheet of aHUS basics to distribute to extended family, friends, and caregivers. This downloadable page gives a quick glance at what a diagnosis of aHUS means for a patient and their family. http://api.ning.com/files/bbHLGQAvtUKCgC1NnCspvepsENiCyqYVUWmckndJoOIdKW7Kcr2vrQ1KPPkENmjjMZ7HtQFKpgHMJ-UZD*flAKBq38D2pLtV/BasicsofAHUS0511.pdf_
Our aHUS Brochure “A Story of Hope” shares the stories of aHUS patients and their families worldwide, and highlights aHUS informational highlights. Viewable at http://atypicalhus.ning.com/page/ahus-brochure-3 in a format that came be downloaded, multiple copies can be ordered at Digital Lizard http://www.digitallizard.com/contact.
VISIT http://atypicalhus.ning.com/page/ahus-brochure-3 for other informational materials available now!
We encourage empowerment of patients, their families, and organizations with rare disease interests - become involved with innovative rare disease advocacy, outreach, and awareness efforts.
Join the international aHUS Network! A National Organization for Rare Disorders (NORD)/European Organization for Rare Diseases (EURORDIS) joint initiative: Keep pace with innovations in other countries, with translation provided across multiple languages. Rare Disease Communities helps patients to understand their condition, connect with other patients and provides tools for living with their diseases. Links to aHUS organizations in other countries, clinical trials, new studies and other benefits connect you with cutting edge research, information, and issues occurring in aHUS circles worldwide. http://www.rareconnect.org.
The R.A.R.E. Project at http://rareproject.org/. Check out their outstanding awareness and advocacy programs: Global Genes, The Children's Rare Disease Network, 7000 Bracelets of Hope and RareConnect!
**GENETIC TESTING – SCREENING FOR AHUS**
United States: The University of Iowa's MORL http://www.healthcare.uiowa.edu/labs/morl/ (Molecular Otolaryngology and Renal Research Laboratory (MORL) (http://www.healthcare.uiowa.edu/labs/morl/) genetic screening program is CLIA-accredited and conducts much of the analysis for aHUS patients in the United States. Dr. Richard Smith is Director of MORL. Visit their Web site for specifics on aHUS genetic studies and screenings that are available, or contact them at: The University of Iowa 5270 CBRB Iowa City, IA 52242; phone: 319-335-6623; fax: 319-353-5869.
Genetic Testing in the UK: Dr. T. Goodship recommends contact with the Northern Genetics Service (http://www.newcastle-hospitals.org.uk/services/northern-genetics_services_molecular-genetics_genetic-tests_haemolytic-uremic-syndrome.aspx)
France: Screening requests should be placed through Dr. FREMEAUX BACCHI in PARIS (Hospital Georges Pompidou). Dr Véronique Frémeaux-Bacchi - HEGP – Paris- +33 (0)1 56 09 39 47 E: email@example.com
Italy: Screening requests should be placed through Dr. MARINA NORIS in Ranica, Italy. Genetic testing is conducted at: Laboratory of Immunology and Genetics of Rare Diseases and Transplants, Clinical Research Center for Rare Diseases “Aldo e Cele Daccò”, Villa Camozzi – Via Camozzi 3, 24020 Ranica (BG), ITALY Phone: +39-035-4535362 Fax: +39-035-4535377 E-mail: firstname.lastname@example.org
Spain: Screening is conducted through the biotech, Secugen SL (www.secugen.es), by arrangement with Prof. Rodriguez de Cordoba.
Please contact email@example.com if you are seeking genetic screening information for an aHUS patient outside of the USA.
The National Kidney Foundation, www.kidney.org
The American Association of Kidney Patients, www.aakp.org
The Kidney Kids website has a great resource center with links to general info about kidney disease, renal diets, pediatric issues, dialysis, transplantation, Medicare and other valuable resources. http://www.kidneykids.org/resources_usefulsites.htm
The Renal Network, www.therenalnetwork.org, and their secondary site, www.kidneypatientnews.org, have important information and resources for patients and family members who want to learn more about chronic kidney disease and dialysis.
Please contact firstname.lastname@example.org to offer a valuable resource, program, or link to add to this document for aHUS families.
aHUS Bootcamp: Revised by L. Burke, October 2013