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Familial Mediterranean Fever (FMF) Research and Information

Posted on February 19, 2014 by Jennifer Tousseau

Below are links to Familial Mediterranean Fever (FMF) studies and other helpful information. These are not all the studies available however. For more search Pubmed.gov.

Click here to see studies relating to single mutation FMF.

EULAR recommendations for the management of familiar Mediterranean fever – Current consensus for FMF treatment recommendations from leading global experts on FMF. Includes detailed information on colchicine dosing.

Familial Mediterranean fever – A review – A good comprehensive review that covers symptoms, diagnosis, and disease management.

Mayo Clinic: Familial Mediterranean Fever – A good simplified overview.

National Institutes of Health: Familial Mediterranean Fever – Another simple overview.

DermNet NZ: Familial Mediterranean Fever – A more detailed overview of FMF. Good overview of symptoms and details on skin involvement in FMF with photos.

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever – A comprehensive study that documented symptoms of over 500 children in relation to the FMF mutations. This study concluded:

In summary, the frequency of FMF was 52.8 %. Fever was the most frequent symptom. The most common mutation was M694V. The mean age of patients who were admitted with abdominal pain alone was significantly higher than patients who presented with fever alone. Abdominal pain was significantly more frequent in patients with M694V and E148Q heterozygous mutations than children with R202Q and M680I heterozygous mutations. Arthritis/arthralgia were significantly more common in patients with homozygous M694V and E148Q mutations. Chest pain was more frequent with homozygous M694V (61.4 %) and heterozygous E148Q (25.6 %) mutations (p = 0.04). In 25 of the 229 children (10.9 %) with chest pain, pericardial effusion was documented at echocardiography. Skin eruption was most commonly seen in homozygous E148Q mutations. This was followed by heterozygous M694V and heterozygous M680I mutations. Homozygous M694V (n = 34, 32.3 %) and E148Q (n = 23, 22 %) mutations were significantly more frequent in patients with HSP (p = 0.03). Arthritis (n = 17, 7.0 %) and arthralgia (n = 24, 6.7 %) were seen more frequently in patients with compound heterozygous M694V/E148Q mutations, whereas M694V/R202Q coexistence caused skin eruptions (n = 16, 11.4 %) more frequently. The most frequent occurence of febrile episodes were in patients with M694V homozygous mutations (number of attacks = 4.4 ± 1.6/month). Patients with a history of appendectomy (n = 26) carried homozygous M694V (n = 16) and E148Q (n = 10) mutations. Diarrhea developed after colchicine therapy in 0.22 % of patients. The ratio of the clinically-severe patients was 24.1 % (n = 70) in children with homozygous M694V mutations. This ratio was significantly higher than other homozygous mutations. Proteinuria was detected most frequently in patients with homozygous M694V mutations. The SAA level in homozygous M694V mutations was significantly higher than in other mutations.

Primary headaches in pediatric patients with chronic rheumatic disease – “Patients with JIA and FMF should be asked specifically about accompanying primary headaches particularly migraine headaches as they may be additional disabilities for these patients.”

Functional gastrointestinal disorders in patients with familial Mediterranean fever – “IBS and dyspepsia were not increased in patients with FMF, whereas diarrhoea was more frequently reported.”

MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study. – “In our cohort of children with FMF, cardiac involvement appears to be common. Pericardial effusions are significantly related to presence of mutation types E48Q, P 369S, V726A. These associations may warrant genetic screening of children with FMF to detect cardiac risk.”

Colchicine-induced lactose malabsorption in patients with familial Mediterranean fever –Colchicine, the common treatment for FMF, is known to cause lactose intolerance.

Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF

Relationship of Tel Hashomer criteria and Mediterranean fever gene mutations in a cohort of Turkish familial Mediterranean fever patients – “In patients with high or low clinical suspicion of diagnosis of FMF according to Tel Hashomer criteria, the frequency of homozygote patients was significantly higher than the frequency of patients with no mutation, but it was not higher than the frequency of heterozygote patients.”

Recent Advances in Children With Familial Mediterranean Fever: Diagnosis – dated 3/28/2013 Includes 3 different criteria used to diagnose FMF.

Decreased vitamin D levels in children with familial Mediterranean fever – “Cumulative colchicine dose appears to negatively affect vitamin D levels.”

Colchicine-free remission in familial Mediterranean fever: featuring a unique subset of the disease-a case control study

Thyroid autoimmunity in patients with Familial Mediterranean Fever: preliminary results – “Although statistically not significant, thyroid autoimmunity was observed more frequently in patients with FMF than in healthy controls.”

Cutaneous necrotizing vasculitis as a manifestation of familial Mediterranean fever – “Cutaneous necrotizing vasculitis repeatedly emerging with febrile attacks should be included among the skin manifestations of FMF.”

Flying in the U.S. with Medication

Posted on February 12, 2014 by Jennifer Tousseau

Medications do not fall under the 3-1-1 rule when flying in the United States. Per the Transportation Security Administration (TSA), you can bring any medications with you on board the flight, whether they are liquid or solid. Here are the rules that do apply to medications and some tips to make flying in the U.S. with your medications easier.

Carry Biologic Medications with You

Don’t put your liquid biologic medication, such as anakinra, in your checked baggage. The cargo section of the airplane is not temperature controlled and could damage the medication. Also, if your bag is lost, or delayed, your medication may not be useable when you are on your trip. Keep it with you at all times. Click here to get ideas on what coolers to use for your biologic or refrigerated medication.

Can I Fly with My Medication and Syringes?

Yes, TSA rules do allow for travel with both the liquid prescription medication and extra syringes, as long as you have both. You can also travel with your used syringes in a disposal container.

Note that if you put the used syringes in your luggage, your checked bag will likely be inspected. If you can find a place to dispose of the majority of the used syringes safely, such as at a pharmacy on your last day of your trip, you will have less to carry home with you.

Should I Send Medication Through the X-ray Machine?

All medications and related supplies do have to be screened by security at the airport. According to Celeste Robb-Nicholson, M.D., the editor of Harvard Women’s Health Watch, the FDA, “knows of no drugs that have special instructions in the labeling to avoid airport x-ray machines.” However, if you prefer not to have your medications go through the x-ray machine, you can request a hand inspection by airport security.

Ice and Gel Packs are OK

Ice and gel packs needed to keep medications cold are allowed through security. Make sure to put the medication into a clean resealable plastic bag to protect the medication from any moisture.

Bring extra plastic bags with you, in case any of the ice packs open up during the flight, or if you are delayed somewhere and need to get extra ice in the airport to keep the medication cold for the rest of the trip.

Inform Security

Do keep your medications in a separate case or bag so you can easily remove it and inform security right as you get to the security screening that you have medications to be screened. Often, they require you to place the container with the medications into one of their plastic bins for X-ray screening.

Carry a Doctor’s Note and Prescription Labels

It’s best to carry all prescription medications with the prescription label and in the original containers if possible. Although it’s not required by the TSA, traveling with a note from your doctor, or the National Institutes of Health (NIH) if you are part of an NIH study, is also a good idea. The note can simply state that travel with X medication is necessary and include the patient’s name.

If you would like more tips for travel, or how to help your child with injections, take a look at our new “Healthier Ever After” book, available now as a download, and in print in April 2014.

Click here for more tips and resources for patients on biologic medication for autoinflammatory diseases.

References

*Top airplane photo by RHL Images, Flickr

*Ice photo by anneh632, Flickr

Medication Travel Cooler Bag Recommendations from Our Patient Community

Posted on February 10, 2014 by Jennifer Tousseau

Below are recommendations of what to use to keep your medications cold when traveling. The recommendations come directly from our Autoinflammatory Alliance patient community.

Insulpak Insulated Travel Bag for Medications

This is the cooler we use. This soft-sided travel cooler is specially designed for travel with your medication and the related supplies. It has two sides that zip open. In one side, you put the medication and gel pack. On the other is a pouch where you can carry any paperwork, extra syringes, alcohol swaps etc. You can even get a small plastic container in this pouch to use as your sharps container while you travel.

There is a digital thermometer that you can read from the outside of the pack, which is a nice convenience and reassuring, as it’s easy to monitor the temperature inside the case. Placement of the thermometer gauge does however make a difference in the reading. I found it’s best to center it between the gel pack and the medication. If it falls down along the side or bottom, it reads the temperature as being higher than it really is.

For a size comparison, this is about the same outer dimensions of an iPad, but wider. You can fit about four boxes worth of anakinra syringes in the cooler side, but not in the boxes if you fill the other side with supplies. You would have to pull the syringes out and wrap them in bubble wrap to fit that many. Two boxes of syringes with the boxes can fit however. If you remove the syringes from the box, remember to keep the prescription label and pack it with the syringes.

The manufacturer states that medications will stay cool for 30 hours. However, I wouldn’t go that long without changing out the gel pack to a new frozen one or replacing with ice. It did keep the medication within the correct temperature range during a cross-country trip that lasted 15 hours, however by the last hour or two it was starting to warm up to the upper limits of that range.

If you will be traveling with a cooler for food – we learned you can put this inside the cooler and it stays the right temperature for much longer. While camping, we placed this bag inside a large Ziploc bag and put it on top of the food and drinks inside a cooler. It went about 2 days in hot summer sun before needing more ice. You can buy the Insulpak Medication Travel Bag on Amazon

PackIt Lunch Bag as a Travel Cooler Bag

Several patients in our community use and recommend the PackIt Freezable Lunch Bag. The gel pack is permanently sewed into the lining of the lunch bag. You freeze the entire bag before use. Patients report it has enough room for at least three to four trays of anakinra and stays cold for at least 10 hours. Some reported flying across the country with no worries about the temperature of their medication. Everyone likes that it folds flat when not in use. This is also about half the cost of the Insulpak, so if you want simple and cheap, this is the one to buy. However, do buy a refrigerator thermometer to place inside so you can monitor the temperature. Buy a PackIt Freezable Lunch Bag on Amazon

This cooler bag comes in black, blue, and gray. Different sizes are also sold here on Amazon.

Thermos Cooler with Strap

This economical insulated lunch bag will also keep your medications cold enough for travel. It’s soft sided and has a shoulder strap, making it easy to carry and travel with in the car or airports. It’s also large and will hold several boxes of Kineret. All you need to add is a gel ice pack and container to put your medications inside. Most any plastic container designed for sandwiches will work for most pre-filled syringes. Buy a Thermos Cooler on Amazon

Make Your Own Travel Cooler

You can also make your own travel cooler. One patient uses a stainless steel thermos like this one with a wide opening. She wraps the Kineret syringes in bubble wrap with a thermometer. Around that she places small ice packs. The bubble wrapped keeps the syringes from freezing and at just the right temperature. On the outside of the thermos, she tapes a photocopy of the medication label. This thermos travel cooler can easily fit into small carry-on luggage or even a large purse.

A Hydroflask like this one has kept medications cold for 30+ hours.

The Hydroflask with the wide mouth also does a great job of keeping medications cold. One family reports it kept their biologic medications cold for 36 hours.

If you need to travel with a larger amount of refrigerated medication, you will need to get a much larger cooler. There are a number of soft-sided coolers that will work. The important thing is to make sure that you have enough room around the medication for adequate ice or gel packs, so all the medication will stay cold, and that the overall dimensions work with the airline baggage restrictions for carry-on luggage. Soft-sided coolers fit better into overhead or under the seat areas.

For more tips on traveling with your medication, click here.