FDA Approves Drug to Treat Rare Autoimmune Disease

The U.S. Federal Drug Administration (FDA) has approved a drug manufactured by ChemoCentryx to treat a rare group of autoimmune diseases, called anti-neutrophil cytoplasmic autoantibody-associated vasculitis, or ANCA-AAV for short. According to ANCA Vasculitis News, ANCA-AAV causes inflammation and damage to the body’s small blood vessels. This inflammation is the result of antibodies that bind to certain cells of the immune system, called neutrophils, and overly activate them.

Since small blood vessels are found throughout the body, ANCA-AAV causes a variety of symptoms, including:

  • Poor kidney function, leading to kidney failure
  • Severe respiratory problems, including shortness of breath, hoarse voice, cough with blood or mucus, and chest pain
  • Neurological symptoms, including tingling, burning, numbness, and weakness
  • Central nervous system (CNS) involvement, such as headaches, cognitive impairment, and memory deficits. In severe cases, seizures, paralysis or loss of consciousness may also result.
  • Ear, nose, and throat (ENT) symptoms, like sinusitis, nasal discharge, rhinitis, and tinnitus (ringing in the ears)
  • Eye symptoms, including eye pain, vision impairment, and vision loss
  • Joint pain, muscle pain, and muscle loss
  • Skin lesions, including rashes, sores, ulcers, bumps, and bleeding underneath the skin
  • Digestive problems, like vomiting, diarrhea, nausea, abdominal pain, and blood in one’s stool
  • And more…

Due to the numerous symptoms ANCA-AAV causes, it can often be fatal for patients; in fact, ChemoCentryx states that the first year mortality rate for patients living with the disease is between 11 and 18 percent. Current ANCA-AAV treatments on the market include steroids and immunosuppressant medications which compromise the body’s ability to fight off infections. That’s why having a new treatment on the market that works via a different mechanism may be a saving grace for many ANCA-AAV patients.

The new drug, called avacopan, will be sold by ChemoCentryx under the brand name Tavneos. It works by blocking a protein called C5a receptor that is responsible for causing numerous inflammatory diseases. The drug’s wholesale price will be an astronomical $150,000-$200,000 per patient per year. However, it could be the life-saving treatment that the 40,000 ANCA-AAV patients in the US need.

The drug is currently being tested for use on other conditions as well, including the autoimmune skin disease Hidradenitis Suppurativa (HS). The drug has already received approval for commercialization in Japan, and is expected to be approved in Europe by the end of 2021.

Martina, a 29-year-old mother-of-two from Stuttgart, Germany, describes what it was like being diagnosed with this challenging autoimmune condition:

“It began rather unspectacularly, with flu-like symptoms, fever, headaches, and joint pain. So anyone would think, ‘It’s just a normal flu.’ Then it got worse over the course of a week and I went to the hospital.”

She was eventually diagnosed with ANCA-AAV after undergoing a series of blood tests. Unfortunately, she had to give up her career as an educator in the process, since she didn’t have a strong enough immune system to be interacting with children while taking steroids and immunosuppressants to control the disease. Patients like Martina are the ones that could potentially stand to benefit from new drug therapies like avacopan.

Martina, 29, appears in an ad to raise awareness for vasculitis conditions.

To find resources for those living with ANCA-AAV and their caretakers, visit: https://www.myancavasculitis.com/living-with-aav/

The Connection Between Blood Type and Autoimmune Disease

Image courtesy of Medical News Today.

Medical researchers have long asked the question: Is there a connection between one’s blood type and autoimmune disease?

Clinical studies have had varied results, mostly due to the small sample sizes of each study. Though this area needs more research, this blog post will cover some of the research that has been published so far.

Study: Rheumatic Diseases and ABO Blood Types

A 2017 study in Turkey sought to find a link between particular blood types and the incidence of rheumatic disease. Rheumatic disease includes over 200 conditions that cause pain in your joints, connective tissue, tendons, and cartilage; many of these conditions are autoimmune diseases such as rheumatoid arthritis, Sjogren’s Syndrome, and systemic lupus erythematosus.

The researchers assessed 823 patients, with the following distribution of blood types: 42.5% patients had type A blood, 33.2% had type O blood, 15.4% had type B, and 8.9% had type AB. Each patient in the study had at least one of the following nine rheumatic diseases:

  • Behçet’s disease
  • Familial Mediterranean fever (FMF)
  • Rheumatoid arthritis (RA)
  • Spondyloarthropathy
  • Systemic lupus erythematosus (SLE)
  • Systemic sclerosis (SSc)
  • Sjogren’s syndrome (SjS)
  • Undifferentiated connective tissue disease
  • Vasculitis

Their study found that there was a significant difference in the distribution of blood types among those with rheumatic diseases. The most common autoimmune diseases among those with type A blood were: rheumatoid arthritis, spondyloarthropathy, vasculitis, Behçet’s disease, and undifferentiated connective tissue disease.

The most common autoimmune diseases among those with type O blood were: systemic lupus erythematosus, systemic sclerosis, and Sjogren’s syndrome. The researchers also noted that SLE, SSc and SjS are the connective tissue disorders frequently observed with antinuclear antibodies (ANA). The rheumatic disease familial Mediterranean fever was also found to be most common in those with type O blood.

Those with blood type AB were observed to be the least likely to suffer from rheumatic disease. However, it should be noted that type AB blood is also the most rare blood type in general, and represented the smallest amount of patients studied.

In addition, it was found that there was a significant difference in the distribution of Rh factor in rheumatic diseases. Of those with rheumatic diseases, 92.2% patients were Rh positive and only 7.8% patients were Rh negative. However, it should once again be noted that a positive Rhesus Factor (Rh+) is also more common among the general population than a negative Rhesus Factor (Rh-).

Is there a link between autoimmune disease and blood type?

So, if you have blood types A or O, does this mean you are more likely to get an autoimmune disease? The researchers who conducted this study concluded: “…we believe that the higher incidence of different rheumatic diseases in different blood types is associated with different genetic predispositions.”

In other words, since blood type is inherited (i.e. genetic), the results of the study point to a likely connection between certain genes and the increased predisposition for developing an autoimmune or rheumatic disease.

Do you know your blood type?

I, for one, do not know my own blood type. This is somewhat ironic, since I’ve undergone many blood tests as part of my Sjogren’s syndrome diagnosis, as well as for monitoring my liver enzyme levels while taking certain medications to control my autoimmune symptoms.

I actually did ask my primary care doctor what my blood type was the last time he ordered a test, and he advised that finding out your blood type is not a common part of the blood testing routine, and thus, he didn’t know what mine was.

If you have an autoimmune disease (or multiple diseases), and you know your blood type, comment below and let us know, are your condition and blood type consistent with the results of this study?

Dutch Skating Champion Lara van Rujiven Dies from Autoimmune Disease

Speed skating champion Lara van Rujiven passed away from complications due to an autoimmune disease on Friday night, the Dutch Speed Skating Association KNSB has reported.

The 27-year-old gold medalist athlete was admitted to a hospital in Perpignan, France on June 25 with symptoms indicating that her immune system was compromised. She began to experience internal bleeding, including in her brain, and underwent two operations while being kept in an artificial coma.

Sadly, van Rujiven eventually succumbed to complications of her autoimmune disease. While the exact nature of her autoimmune condition is unknown, some have speculated that she suffered from autoimmune encephalitis, vasculitis, idiopathic thrombocytopenic purpura (ITP), lupus, or one of the many other autoimmune conditions which can cause internal bleeding.

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Van Rujiven won the gold medal for the 500-metre short track skating championship in 2019 in Bulgaria, becoming the first woman from the Netherlands to do so.

Fans and fellow athletes alike took to social media to express their sadness about her passing. “What terrible news we’ve just received. The loss will be felt in the sports world,” Dutch national coach Jeroen Otter said.

On behalf of Autoimmune Warrior, I’d like to send our condolences to Lara’s family. Her story demonstrates that autoimmune disease really has no bounds, and can affect even the strongest among us in the prime of their life. Rest in peace, Lara – you’ve made the Netherlands proud!