When I first stumbled upon this word, I thought it might have something to do with marriage since the initial syllable of husband is hus. According to Vocabulary.com,
“The word husband comes from the Old Norse hūsbōndi, where hūs meant house and bōndi meant dweller.”
But then, I looked up aHus. Was I ever wrong in assuming this had to do with a house. I turned to my trusted favorites to see what I could find out about this word I hadn’t heard before, starting with the American Kidney Fund:
“aHUS (atypical hemolytic uremic syndrome) is a very rare disease that causes tiny blood clots to form in the small blood vessels of your body. These blood clots can block blood flow to important organs, such as your kidneys. This can damage your kidneys and lead to kidney failure.”
I’m pretty sure we all know what atypical and syndrome mean. Just in case you forgot, uremic means of or about the urine. And hemolytic? That means blood (hemo) and lysis (rupturing). Or in this case, “rupturing of the red blood cells and the release of their contents into the surrounding fluid.” Thanks for helping us out here, Wikipedia. While this was the most reader friendly definition I could find, keep in mind that anyone can edit a Wikipedia entry.
So, we’re back in the realm of rare diseases. I’d like to know what causes this particular rare disease. Since it is a rare disease, I went to GARD’s website for information about how one gets this disease. By the way, GARD is the new website for Genetic and Rare Diseases and is part of National Center for Advancing Translational Sciences. That’s part of the U.S. Department of Health and Human Services’ National Institutes of Health.
“It can occur at any age and is often caused by a combination of environmental and genetic factors. Genetic factors involve genes that code for proteins that help control the complement system (part of your body’s immune system). Environmental factors include certain medications (such as anticancer drugs), chronic diseases (e.g., systemic sclerosis and malignant hypertension), viral or bacterial infections, cancers, organ transplantation, and pregnancy. In about 60% of aHUS, a genetic change may be identified. The genes associated with genetic aHUS include C3, CD46 (MCP), CFB, CFH, CFHR1, CFHR3, CFHR4, CFI, DGKE, and THBD. Genetic changes in these genes increase the likelihood (predisposition) to developing aHUS, rather than directly causing the disease. In most cases, there is no family history of the disease. In cases that do run in families, predisposition to aHUS is inherited in an autosomal dominant or an autosomal recessive pattern of inheritance.”
Uh-oh, did you notice ‘organ transplantation’ as one of the environmental factors which may cause this disease? And ‘chronic disease’? That makes it even more important for us to know how to recognize if we have this disease. Well, how do we do that?
I went to the site called aHusNews to see if they could pinpoint the symptoms. Sure enough, they could.
“Often, people with aHUS will report a vague feeling of illness, with non-specific symptoms that may include paleness, nausea, vomiting, fatigue, drowsiness, high blood pressure, and swelling.
There are three hallmark symptoms that define aHUS: hemolytic anemia, thrombocytopenia, and kidney failure.
Symptoms can appear at any age, though it is slightly more common for them to first appear in childhood rather than later on in life. Adult-onset aHUS is more frequent in biological females than males, whereas childhood-onset disease affects both sexes equally.”
Is that how it’s diagnosed, I wondered. A different site, called Ahus.org was helpful here.
“…. After initial blood tests, the hospital may conduct Creatinine and BUN tests and may (or may not) reach an initial Diagnosis of atypical HUS. The flu like symptoms … will continue to worsen when episodes are active. At this point, kidney function may begin to fall, often quite dramatically. Other organs sometime experience problems in some cases. Quite often, seizures have been reported, along with other neurological issues. Sometimes gastronomical problems occur as well.
During an extended atypical attack or episode, the tell-tale signs of aHUS are very obvious. Hemoglobin levels may fall to 6-7, when normal levels should be 11-13: Hematocrit levels may fall in the low 20s, when normal levels should be in the mid 30s. Creatinine and BUN levels start to rise, characteristics of failing kidney function. Blood Pressure will become a nagging, recurring problem. Diarrhea and vomiting may also be present (sometimes that occurs with the initial onset, at other times it occurs later) ….
TRIGGERS VS. THE CAUSE
It is important not to confuse ‘triggers’ of atypical HUS with the root cause. In normal life, many of us get colds, the flu, infections, and the body’s immune system deal with those properly. In aHUS, a person may get a cold, and it triggers a full blown aHUS episode. This occurs simply because the body’s immune system is not reacting properly to the event.”
The site mentions other specific tests that may be done to diagnose aHus.
All this is worrisome. Is there, perhaps, a cure? No, there isn’t. This is a lifelong disease, but there are treatments available. Our old friend WebMD explains:
” The FDA has approved two drugs to treat aHUS:
Eculizumab (Soliris)
Ravulizumab (Ultomirus)
Both drugs are monoclonal antibodies. These are human-made proteins that act like natural antibody proteins in your body. They attach to other proteins called antigens. Once they attach, they tell your immune system to destroy cells with that antigen.
Eculizumab can increase your blood platelet and red blood cell counts. If you take it early enough, it can also reverse any kidney damage you have.
Your doctor will give you eculizumab by injection in their office. You may have side effects from the drug…. You can also get ravulizumab as an injection. Common side effects include high blood pressure, headache, and cold symptoms. You could also have digestive system problems such as diarrhea, nausea, and vomiting.
Eculizumab and ravulizumab are a type of drug called complement inhibitors. These kinds of drugs may carry a risk of getting meningococcal disease. The CDC suggests people taking them get a meningococcal vaccine. Your doctor may also suggest you take antibiotics to help prevent meningococcal disease.
Besides eculizumab and ravulizumab, you can also treat the symptoms of aHUS with plasma therapy. Plasma is a liquid portion of your blood that takes important nutrients, hormones, and proteins throughout your body.
When you get plasma therapy, you may either have a plasma infusion or plasma exchange.
In a plasma infusion, a doctor puts plasma from a donor into your body. In a plasma exchange, a doctor filters plasma parts out of your blood and replaces them with donor plasma.
If your kidneys don’t respond to treatment, you may need kidney dialysis or a kidney transplant.”
Now you know, whether you wanted to or not. I’m sorry.
Until next week,
Keep living your life!