Stuff My Doctor Says: Life with a Rare Autoinflammatory Disease

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Stuff My Doctor Says: Life with a Rare Autoinflammatory Disease

Autoinflammatory diseases, aka periodic fever syndromes, are rare diseases that most doctors have never seen or even heard of. The autoinflammatory classification of diseases came about right before the start of the 21st century, so it is a new concept to the medical community. The long list of possible autoinflammatory symptoms can include flares of fevers, joint swelling, stomach problems; and for some, chronic inflammation can lead to hearing loss, liver inflammation, and more. Many patients have spent decades undiagnosed, trying to find the cause of their long list of symptoms. Many see different specialists for their various symptoms. This leads to a lot of time spent with doctors.

All this time with medical professionals can lead to hearing all kinds of comments and opinions from them about their health, and rarity of their disease (for those who are lucky to get a diagnosis).

We asked our autoinflammatory patient community “What stuff have their doctors said to them?” Patients sent us these true quotes they have heard from medical professionals, proving that doctors also say the darndest things!

What doctors say when our illness confuses the doctors…

“You really have an odd set of symptoms and they don’t make sense.”

“I have no idea why that medication helped those symptoms.”

“Blood work is not supposed to change like this.”

“But he’s not supposed to hurt between flares.”

“Well, she’s different.”

“We are going to test him for the flu. But this is not the flu.”

“That can’t be related because it’s not in the literature.” Evidently the canon of medical knowledge is already closed.


What doctors say when they truly care… (We LOVE these doctors!)

“Call me if anything weird happens.”

“Let’s get him feeling better. What do you need from me? How can I help?”

“Let me just give you my personal cell phone number.”

“We will find out, eventually.”

“I have never been so nervous opening test results.”

“Well, I think you are absolutely correct about what is going on with your child.  Doctors need to listen to the mothers-they are usually right.”

When I was leaving his office he said, “Could you please sit down again. I notice you’re not happy with the approach we discussed. Shall we discuss it again to see what you think we need to do so I can help him when he gets sick?” I just have to say that a doctor who is willing to find out might be even more important than one he thinks he knows all the answers.

Stuff doctors say that we’d like to forget…

“I doubt the fever was actually 106. We just never see fevers above 104. The body doesn’t allow for fevers to reach above that limit. Are you sure your thermometer is working correctly?” (Yes fevers in periodic fever syndromes can, and for some often, get above 104 F. Learn more here.)

“Maybe they are just growing pains.”

“Your child was in the hospital with high fever, CRP, ESR, WBC, and liver enzymes and couldn’t walk? That was just a daycare virus. We don’t need to do any more tests.”

“Are you sure you’re sick?”

“Nothing good comes from looking things up on the internet.”

“It’s just a virus.”

“This is a benign condition.” (Read more about how these diseases are NOT benign here.)

“I’m sure you weren’t reading the thermometer correctly”

“Getting your education on Dr. Google, I see.”

I was told I had Munchausen’s once because I had a 104 fever that wasn’t coming down with ibuprofen or Tylenol.

Stuff doctors say when they’ve never heard of our disease…

“Sorry we did not come in sooner; we were googling your condition to find out what it was.” (An ironic statement considering what some doctors have said to patients.)

“Your son sees a rheumatologist for a fever?” (These are systemic inflammatory diseases, which fall under the rheumatology specialty.)

“Autoinflammatory? You mean, autoimmune, correct?” (Click here to learn the difference between autoimmune and autoinflammatory diseases.)

“Can you spell that for me?”

“Periodic fever syndrome? That sounds made up. The doctors probably didn’t know what to tell you so they made something up.”

“Why does he see a rheumatologist for FMF? It’s a blood disorder, not a rheumatology disease.”

“Well, that’s not something we typically see with autoimmune diseases.” (That’s probably because these are not autoimmune diseases.)


When we fascinate doctors…

In my case, after I handed him all my files and autoinflammatory studies etc., the doctor said, “Can I keep all this and see you back in a month so I can do some research of my own and talk to some colleagues.”

“Do you think we could find some DNA from your (long-deceased) father somewhere?”

“I hate to sound like Dr. House, but… it’s not lupus.”

“Get every resident in the building to the ER. We never get to see vasculitis this bad.”

“I’ve heard about you!” said by every new resident rheumatologist at every appointment.

Nurses while we were admitted for testing with no idea of the diagnosis said, “We came to see the mystery patient!”

When the doctor knows the patient is the expert…

When you tell the doctor you just wish a doctor would be well informed so you don’t have to be in charge. And the doctor says, “but you’re so good at it.” I know he meant it as a compliment, but all I could think was, “but what if I die?”

“What other blood tests should you have done that I’m forgetting?”

“You sure know a lot about these diseases.”

“Are you in medicine too?”

“Really?! That treatment works? Let me write that down.”

 


The Autoinflammatory Alliance is a nonprofit organization dedicated to helping those with autoinflammatory diseases.

Donate now to help with awareness, education, and research for these rare diseases.

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My Truths about Life with a Chronic Illness

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autoinflammatory disease adults

The photos attached are me 16 hours apart. The first was me making dinner for my parents and family. The second is me 24 hours later ash-gray after being admitted to the hospital and in pain roughly three times worse than natural childbirth (I know, I’ve done it).

Social media has no shortage of “pro-patient” posts. What to do and say, what not to do and say. What color to wear if you care. The constant stream of 10 bullet points about the life struggles of chronic illness.

Then you find pieces that dig a little deeper like, “Why Won’t Apologize for Having Fun While Being Sick.” Or something like that making the rounds today. I don’t remember exactly because I read it waiting for a CT after three doses of Dilaudid.

I wish I felt like I had something sage or eye opening to add to this veritable internet catalog, but I don’t. I only have my truths. The majority of my three-hundred-some (I don’t count, but I know it fluctuates. Not everyone is prepared for my level of enthusiasm for Bernie Sanders, dogs, and self-photography.) Facebook friends know me well. They know that I work for a living, that I care about my community, that I love my children, and that I do nearly everything within reason to be well despite knowing that I will be unwell a fair amount of the time.

What I am getting at is that I’m a real person. So when you see the patient awareness memes and articles, consider that it is someone you know and very likely many someones that you know, even if it is just the cashier you thought was a jerk when they were really just exhausted and hurting.

Chronic illness is not a one time (or two or three time fight); it’s not a phase or a season. Each day you are well is one day closer to your next hospitalization. Every day that you are down or in-patient, it takes twice as much time, or more, to get caught back up. So when, your email goes unanswered or a collaboration doesn’t go at the speed you would like, please don’t take it personally. That person’s life is likely on pause. Maybe for a day. Maybe for weeks or months. Their direction and ability may have changed entirely since your starting point. It happens in the blink of an eye. The photos attached are me 16 hours apart. The first was last night making dinner for my parents and family, getting the kids prepared to go back to school, walking the dogs, doing laundry, going to work, etc. The second is me ash-gray after being admitted to the hospital today, temperature 95 degrees, now up to a strong 97 degrees F around 2 a.m., blood pressure bottomed out, dehydrated, and in pain roughly three times worse than natural childbirth (I know, I’ve done it).

August is autoinflammatory disease awareness month and I commit to sharing a peek inside this facet of my life for the whole month each year. I gladly skip most medical announcements the rest of the year, minus rare disease awareness week in February. Thank you to those of you who offer your love, support, and understanding. Thank you to those who just treat me like everyone else. All that being said, one thing is for sure, I am blessed beyond measure. Sharing is cathartic.

Sometimes advocacy is just sharing your truths. Some people with empathize, some people will roll their eyes, but hopefully it will offer perspective. Perspective for other patients, for their caregivers, for well-meaning acquaintances, for coaches of kids with sick parents, and for those who have a “lazy” co-worker who is always sick.


The Autoinflammatory Alliance is a nonprofit organization dedicated to helping those with autoinflammatory diseases.

Donate now to help with awareness, education, and research for these rare diseases.

Donate Now


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Periodic Fever Syndrome in…Dogs? Your Four-Legged Best Friend Could Have a Rare Autoinflammatory Disease

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Periodic Fever Syndrome in DogsLook at that face! Wrinkles, lots and lots of wrinkles and they couldn’t be cuter! The Shar-Pei dog breed was originally bred as a general working farm dog. The wrinkles allowed the dog to defend itself from attack because the loose skin makes it difficult to get a good grip on a Shar-Pei. But that wrinkling gene came with an unexpected rare genetic disease – one that is similar to what you or a family member may have – a recurrent fever syndrome (autoinflammatory disease)! It’s known as Shar-Pei autoinflammatory disorder (SPAID) or familial Shar-Pei fever (FSF). So far, this particular genetic disorder has only been found in dogs, but this disease affects Shar-Peis similarly to autoinflammatory diseases in humans.

Those with familial Mediterranean fever (FMF) in particular will understand the suffering of the Shar-Pei who suffers from FSF, because the fevers are short, but intense with a very similar presentation as FMF. Veterinarian, and the autoinflammatory expert of the dog world, Jeff Vidt reports that, “Early on FSF in Shar-Pei was hypothesized to be an animal model for Familial Mediterranean Fever in humans. Recent work indicates this is not true, although FSF is very similar to FMF in man.”

About Familial Shar-Pei Fever

FSF usually starts before 18 months of age (that’s about age 15 to 20 in human years), but symptoms can start at any age. Flares can be triggered by stress, training sessions, dog shows, illness, and for females, coming into heat (Canine Estrus- the fertile period for dogs).

In FSF, fevers last 12 to 36 hours and come with other symptoms. Fevers regularly reach 105 to 107 degrees F, which is considered dangerously high in dogs. All these symptoms vanish with the end of the fever.

Other symptoms that can occur with an FSF flare include:

  • Joint swelling – particularly the ankle joints. This is the most common symptom besides the fever, also giving the condition the name swollen hock syndrome (SHS). Sometimes the wrist joint will swell.
  • Lips/muzzle swelling
  • Lethargy
  • Lack of appetite
  • Inflammation inside the ear
  • Cutaneous mucinosis – This is a buildup of mucin (a fluid) under the skin.
  • Excessive thirst and urine
  • Abdominal pain
  • Vomiting
  • Diarrhea

Other Conditions Noted with Dogs with SPAID, with or without Fever:

  • Arthritis
  • Recurrent otitis
  • Mast cell disease
  • Cellutis
  • Swollen hocks
  • Inflammatory bowel disease
  • Lymphangitis
  • Lymphedema
  • Lymphangectasia

Rare Complications

  • Immune-mediated vasculitis that may include pustular dermatosis and sloughing of the skin.
  • Amyloidosis – 5% will develop renal failure. Some Shar-Pei dogs will get amyloidosis without having symptoms of a fever syndrome. This can happen in FMF type 2 in humans.
  • Liver amyloidosis
  • Increased risk for blood clots
  • Increased risk for other kidney diseases

Characteristic Blood Test Results During a FSF Fever Include:

  • Increase neutrophils (in some cases low neutrophil counts are also possible)
  • Increased monocytes
  • Increased WBC
  • Elevated ALP or other liver function tests
  • High cholesterol
  • Hyperglobulinemia
  • Elevated bilirubin

Treatment

“All Shar-Pei with FSF should be on colchicine, and be regularly monitored via urine samples and blood work for development of complications,” states Jeff Vidt, DVM. Dogs on colchicine have fewer flares, but still need on demand treatment for the break through flares. Usually NSAIDS are given for treatment during flares.

Gene-duplication

Duplications in the HAS2 gene cause wrinkles and FSF in Shar-Pei dogs.

Why Do Some Shar-Peis Get FSF?

The “why” is found in the genes. Two pathways lead to an increase of inflammatory cytokine interleukin-1β levels in FSF. One of the pathways involves the NLRP3 inflammasome and the other involves toll-like receptors TLR2 and TLR4. The NLRP3 pathway is involved in a few human autoinflammatory diseases, such as cryopyrin associated periodic syndromes (CAPS), while TLR4 and TLR2 are involved in other inflammatory conditions, such as ankylosing spondylitis, rheumatoid arthritis, and kidney disease. TLR2 and RLR4 have also been indicated as possibly being involved in the autoinflammatory disease, mevalonate kinase deficiency (hyper-IgD syndrome [HIDS]).  Shar-Peis with FSF also have increased IL-6 levels.

FSF has been known to be a genetic autoinflammatory disease for several years, but a genetic test for it just became available in 2016. The gene responsible, the HAS2 gene, is the same one that creates the signature wrinkled look of the Shar-Pei. Every Shar-Pei has a mutation on or near HAS2 that creates more hyaluronan. This is a protein found in different parts of the body, including cartilage and skin. Shar-Peis have excessive hyaluronan, which creates the wrinkled skin.

What has been learned is that mutations that produce a lot of wrinkles lead to FSF. Dogs with fewer wrinkles do not get FSF. In FSF, duplications on the gene, rather than missense mutations, lead to increased hyaluronan. The more duplications, the higher the chance the dog will develop FSF.

According to Dr. Vidt, it’s the breakdown of the hyaluronan that activates the inflammation. He states, “Low-molecular weight break down products of hyaluronan metabolism are pro-inflammatory and exacerbate the pro-inflammatory process involved in FSF.”

Smart black shar-pei dog with glasses is reading a bookWhat Can the Shar-Pei Dog Teach Us?

It is possible that this research and understanding of this rare canine genetic fever syndrome will one day bring new insight into human fever syndromes. Although located on a different chromosome, humans do have a HAS2 gene. According to the National Center for Biotechnology Information, “Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis.”  However, these Shar-Pei FSF studies are the first to connect HAS2 and hyaluronan with a fever syndrome.

The authors of the HAS2 study state, “This study suggests that HAS2 dysregulation can trigger a periodic fever syndrome in dogs and therefore it will be relevant to examine the approximately 60% of human fever patients who currently have unexplained disease.”

Further, Lindblad-Toh, one of the study’s authors, reports in an interview for HealthCanal, “The Shar-Pei dog is a great model for human periodic fever syndromes,” she says. Currently, finding regulatory mutations in human disease is difficult. “In humans, we are still focusing on the protein-coding genes themselves, where the mutations are more easily understood,” she explains. “But finding these types of mutations is easier in the purebred dog since regulatory mutations are common.”

shar pei fever syndrome

If the real thing isn’t in your future, this cute Shar Pei Beanie Baby  could be your perfect companion.

About the Shar-Pei Breed

This breed not only can have a rare genetic disease, they are also considered a rare breed. So if you are looking for a true furry companion, a Shar Pai may be just the friend you need. Just know that he might need extra care than your average pet. It’s estimated that 20 to 30 percent of purebred Shar-Pei dogs have FSF/SPAID. Adults grow to be about 45 to 60 pounds, and are described as being independent, loyal, calm, intelligent, and strong-willed. Due to their history as a fighting dog, some may not to get along easily with other dogs. How good they are with children varies from dog to dog.

Or maybe this cute Shar Pei Beanie Baby will make the perfect pet for you.

Fun Fact: The Chinese once believed that the Shar-Pei dogs’ black mouth would scare off evil spirits.

 

References

  1. Royal Shar-Pei: Shar-Pei Fever & Familial Amyloidosis
  2. Dr. Jeff Vidt: Familial Shar-Pei Fever
  3. Mar Vista Animal Medical Center: Shar-Pei Recurrent Fever Syndrome
  4. Arthritis Research & Therapy: Toll-like receptors and NOD-like receptors in rheumatic diseases
  5. Current opinion in nephrology and hypertension: Toll-like receptors in kidney disease
  6. Dr. Jeff Vidt: SPAID – Shar-Pei Autoinflammatory Disorder
  7. HealthCanal: Hyaluronic acid regulatory gene linked to periodic fevers
  8. PLOS Genetics: A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs
  9. American Kennel Club: Chinese Shar-Pei
  10. PubMed.gov: TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome
  11. Phys.org: A genetic test for Shar-pei autoinflammatory disease
  12. Cornell University College of Veterinary Medicine: New test for Shar-Pei breed: Cornell’s AHDC first in nation to provide the diagnostic
  13. National Center for Biotechnology Information: HAS2

Photo Credits

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