Periodic Fever Syndrome (PFS)

I have a dear friend who suffers from PFS, so I figured it was time for me to do some research and find out what she suffers with and share it with everyone.  Who knows how many others suffer from this, or may not realize that they do.

First, there are a bunch of subcatergories of PFS: Familial Mediterranean Fever (FMF), Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) , Hyperimmunoglobulin D syndrome (HIDS), also called Mevalonate Kinase Associated Periodic Fever Syndrome, Neonatal Onset Multisystem Inflammatory Disease (NOMID), in Europe called Chronic Inflammatory Neurological Cutaneous Articular (CINCA) syndrome and related diseases, Muckle-Wells syndrome and Familial Cold auto inflammatory syndrome and Periodic fever, Aphthous-stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome)

These conditions refer to  a group diseases that cause periodic fevers that are not caused by a viral or bacterial infection.  In general, children who are between episodes or cycles, are fine. Many of these syndromes are hereditary (passed down from parents) and result from a mutation (defect or mistake) in a gene (this is the code that determines the structure of our proteins).  Many of these syndromes have a specific treatment, often based on understanding the problem caused by the genetic defect.

The most common type of PFS is Familial Mediterranean Fever (FMF).  Patients with FMF suffer from Patients suffer from recurrent episodes of fever, accompanied by abdominal, chest and joint pain and swelling.  The disease generally affects people of Mediterranean and Middle Eastern descent, typically Sephardic Jews, Turks, Arabs and Armenians. Since the discovery of the gene defect, it is being diagnosed more frequently, even among populations where it was thought to be very rare, such as Italians, Greeks and Ashkenazi Jews. FMF episodes start before the age of 20 years in approximately 90% of the patients. In more than half of them the disease appears before the age of 10 years.

The main symptoms of the disease are recurrent fever, accompanied by abdominal, chest, or joint pains. Not all children will have all symptoms and symptoms may change over time. Episodes resolve without treatment and usually last between one and four days. Most children are totally normal between episodes, but some children have such frequent episodes they do not fully recover or do not grow properly. Some of the attacks may be so painful that the patient or family seeks medical help in the emergency department. For example, severe abdominal attacks may mimic acute appendicitis and therefore some patients may undergo abdominal surgery, such as an appendectomy. The chest pain may be so severe that it may be difficult to breathe deeply.

Usually, only one joint is affected at a time, most commonly an ankle or a knee. The joint may be so swollen and painful that the child cannot walk. In about a third of these patients there is a red rash over the involved joint. In some children, the sole finding of the disease may be episodes of joint pain and swelling, which is misdiagnosed as acute rheumatic fever, or juvenile idiopathic arthritis. Usually the joint swelling resolves over 5-14 days. In about 5-10% of cases the joint involvement may become chronic. Some children report muscle pain in the legs.

Rarely, children have recurrent pericarditis (inflammation of the outer layer of the heart), myositis (muscle inflammation), meningitis (inflammation of the membrane surrounding the brain and spinal cord) and orchitis (testicular inflammation). Frequent attacks can affect the child's and family’s life, including school attendance.
The most severe complication of FMF if untreated is the development of amyloidosis. Amyloid is a protein that deposits in certain organs in children with chronic inflammatory diseases that are not well controlled. The most common organ involved is the kidney, but amyloid can deposit in the gut, skin and heart. Eventually amyloid causes a loss of function, especially of the kidneys. Children who are properly treated (see below under medications) are safe from the risk of developing this life-threatening complication

Can it occur in adults? Yes, but often the disease is milder and less obvious (thus harder to diagnose) than in children. The risk of amyloidosis is lower in adult onset disease.

FMF cannot be cured, but it can be well controlled with life-long use of colchicine. In this way, episodes can usually be prevented (in 60% of patients completely prevented, in 33% partially prevented, and in about 5% colchicine is not effective) and amyloidosis can be prevented in 100% of patients. If the patient stops taking the drug, episodes (often after missing only one dose!) and the risk of amyloidosis may return. Compliance (taking the medicine as recommended) is very important. If colchicine is taken regularly the child can live a normal life with a normal life expectancy. The patient or the parents should not change the medication dose without discussing this first with the doctor. Some children initially need psychological support for a disease that means taking medications for their entire life. Colchicine prevents episodes from starting but does not treat an episode that has already started. Therefore, the dose of colchicine should not be increased during an already active episode.

It's just another illness to add to the many that people suffer from.  It seems RA is associated with many diseases, I couldn't find any information if RA or PFS were connected.  It just seems that people with RA also end up with other illnesses, either before or after they are diagnosed.  It's always wise to get checked out with a doctor with ANY weird symptoms that pop up.  I know I've said that before, but it's true because you never know what you have or don't have. 

Fibro Fog

First, so sorry I have not written a blog in a while.  I was sick for a while, and I was feeling overwhelmed with different things in my life so I just needed a break.  I'm sure everyone can relate to that! So here I am back to helping my fellow friends and family understand what they are going through a little easier. Today's topic is Fibro Fog! Thanks to Marie for asking this question. :)

Fibromyalgia is often associated with symptoms of muscle pain and fatigue.  However, unlike normal fatigue, Fibro fatigue can often lead to social isolation and even depression.  Those who have Fibromyalgia, often refer to this feeling of fatigue as Fibro Fog, because it leaves them literally in a fog.  They forget things, and aren't able to do everyday things.

After doing research into this, I found that  Fibro is the intrusion of Alpha-waves during Delta sleep results in non-restorative sleep, which exacerbates the pain and fatigue.  It is this same lack of restorative sleep, as well as life with chronic pain and fatigue (physical exhaustion), which very often results in a cognitive dysfunction commonly referred to as “Fibro-fog” (mental exhaustion). Other contributing factors to Fibro-fog may include depression, decreased oxygen flow to the brain, certain medications, poor nutrition, or changes in the central nervous system.

Fibro-fog is not a psychological condition, but rather the direct result of sleep deprivation and other contributing factors. It is also not the result of Alzheimer’s Disease, dementia, or other conditions that cause deterioration of brain functions.

The severity of Fibro-fog fluctuates from day to day, as well as from person to person. The following is a list of possible signs and symptoms:

• Mental confusion and fatigue
• Loss of short-term memory
• Inability to concentrate
• Impaired thinking
• Absentmindedness
• Inability to recognize familiar surroundings
• Disorientation
• Inability to comprehend written or spoken words
• Trouble with directions
• Short attention span
• Acquired dyslexia (includes difficulty speaking known words)

As Fibro-Fog is directly related to non-restorative sleep then getting good, quality sleep should be the first priority. This may require the use of prescribed medications designed to promote sleep such as amitriptyline, cyclobenzaprine, alprazolam, diphenhydramine, and trazodone.

Many people find that keeping to a regular routine, by going to bed and rising at the same time every day, is a necessary component of good sleep hygiene. Provide a relaxing atmosphere, listen to soft music, enjoy light reading, don't eat too close to bedtime, limit caffiene and purchase a quality mattress.

Update!!

Hello! Sorry I haven't written in a while, have had a lot going on.  I plan on getting back on track with the writing of the blog.  I have a few ideas to write about and will be coming out in the next few days.   Today, I'm starting off with an update since I had a few appointments in Boston yesterday. 

First, I always leave my house early because of traffic, but yesterday I hit traffic everywhere possible! It was awful, it took me 2 hours to get to Boston and i was half an hour late for my first appointment.  Thank goodness all the secretaries are so awesome and when I called ahead to let them know, they said it was fine.  They know I come from far away.  Everything ended up working out, but still I always feel horrible for being late and messing up people's schedule's. 

I saw my immunologist first, and things were okay.  It was just a check up really with him.  I'm currently on an IV called Hizentra that helps build up some of my antibodies.  He also told me to stay on my antibiotic that I take weekly, until Spring/Summer.  I see him again in June, and we'll see how I do off of the meds then.  I was also sent for blood work to check my antibody levels.

Next, I saw my rheumatologist, things went okay there.  He found inflammation in my right knee and the right side of my jaw.  I've been off prednisone for almost 2 weeks now, so it could be because of that. We discussed different options and both decided to try to up the Methotrexate and see how I do on that.  Before, my hair was falling out bad and I was put on a vitamin to help it slow it down, which it has.  Hopefully upping it doesn't cause any side effects, but we will have to wait and see.  I got sent for blood work for that also.

Last, I went to have a bone density scan.  I won't know anything about that for a week or so.  I tried sneaking a peak to see my T-score, but I failed to see anything.  Overall, my appointments weren't too bad, now I just have to wait and see basically.  Which, is I all I seem to do lately, just wait for results, but that's life I guess. In the meantime, I am just working on getting better, and living a healthier lifestyle by eating better and exercising more.  I've been at it for 3 weeks, and so far it's been good. :)

Why a Gluten-free diet?

"I'd like to see more on the connection (or lack of) between wheat/gluten and RA. I've read the theories on why gluten and casein (dairy) can influence RA and it makes sense. I'm still completely new to all this." -- Callie.  Thank you for asking this Callie, I too have wondered this same question.  I don't really know much about gluten free diets at all, but I see so many chicks discussing that they are on it and it's been so great for them.  First, let's take a look at what "gluten free" actually means.

A gluten-free diet is a diet completely free of gluten. Gluten is a protein found in wheat (including kamut and spelt), barley, rye, malts and triticale. Gluten is also used as a food additive in the form of a flavoring, stabilizing or thickening agent, often hidden under "maltodextrine", "dextrine", and "dextrose". A gluten-free diet is the only medically accepted treatment for celiac disease, the related condition dermatitis herpetiformis, and wheat allergy. Additionally, a gluten-free diet may exclude oats, however medical practitioners are divided on whether oats are an allergen to celiac disease sufferers or if they are cross-contaminated in milling facilities by other allergens.

Alright, so what foods are gluten-free? Which foods can I and can I not eat? Grains are used in the processing of many ingredients, so it will be necessary to seek out hidden gluten.  The following terms found in food labels may mean that there is gluten in the product.

• Hydrolyzed Vegetable Protein (HVP), unless made from soy or corn
• Flour or Cereal products, unless made with pure rice flour, corn flour, potato flour or soy flour
• Vegetable Protein, unless made from soy or corn
• Malt or Malt Flavoring, unless derived from corn
• Modified Starch or Modified Food Starch, unless arrowroot, corn, potato, tapioca, waxy maize or maize is used
• Vegetable Gum, unless made from carob bean, locust bean, cellulose, guar, gum arabic, gum aracia, gum tragacanth, xantham or vegetable starch
• Soy Sauce or Soy Sauce Solids, unless you know they do not contain wheat

Foods that are gluten-free include: fresh meat, cheese, milk, fresh herbs, fruit, eggs, corn tacos, Jell-O, Wine Vinegar, jam, honey, almonds, popcorn and more.  You can see a whole list of foods that are safe for gluten-free diets at the gluten-free chef.  You can read more: HERE

There is now ample information in the medical literature to indicate that a prebiotic rich diet leads to demonstrable health benefits.  These include:

• Increased calcium absorption
• Stronger bones and bone density
• Enhanced immunity
• Reduced allergies and asthma in infants and children
• A lower blood triglyceride level
• Appetite and weight control
• Lower cancer factors in the gut
• Other benefits, including an increased sense of well being

So, how and why is gluten-free good for those of us with RA? There have been some reports that gluten-free can help lower inflammation, and help reduce further damage on the joints.  According to John Hopkins Medicine "Following a gluten-free vegan diet appears to be an effective way of reducing the risk of heart disease and stroke in people with rheumatoid arthritis".  A study was done to determine how this works.  The study took patients with RA and spilt them into two groups, one that went gluten-free and no meant, the other was a control group.  The patients stuck with the diet for a year, and afterwards the results showed that they had lost an average of 9lbs, reduced their BMI, lowered their cholesterol, and had a higher level of a certain antibody that helps protect the the buildup of plaque in the arteries.  You can read the entire study HERE   I also found this great blog that has more info on gluten-free and RA, and some yummy recipes that are gluten-free.  You can read more about it HERE

It seems that overtime, gluten-free can be beneficial to those with RA.  It's mostly used to treat Celiac disease, and it was found that 26% of those with RA, also have Celiac disease.  One study claimed that if Celiac is in your family, or your have RA, you could go gluten-free to prevent that from happening.  I'm still debating on whether or not to go gluten-free.  I know it has worked very well for many people, so it could be a great consideration.  If you are considering starting ANY diet, always talk with your doctor about it first, some diets could interfere with medications or health problems.