- HIDS - TRAPS QUESTION

[Guest guest]

What are the differences between these similair diseases. I am a

little concerned that maybe since i only know about that I may

be missing one of the other diseases as a possibility. My child

complains of joint pain with her episode. Can someone break them

down for me please?

Thanks,

Hegelein

Southampton, NJ

[Guest guest]

I just POSTED a detailed email about a week ago on the differences....

(August 5th)

There are NO CONCRETE CLEAR DIFFERENCES. That is why it is difficult to

diagnose.. and the best way at this point is having GENETIC testing...

especially done at NIH... so if a child has their DNA at NIH if a new

mutation for fever disorder is found later... The child's speciman will be

there already.

Here it is again.

Important Links to visit to understand the differences, complications,

secondary disorders related to genetic fever disorders:

http://www.fmfcommunity.org/

http://www.hids.net/

http://stillswebsite.tripod.com/traps.htm

And lastly Charyn runs another group for TRAPS... with just a few members

but she has wonderful articles describing TRAPS....

TNFReceptorFeverSyndromeSupport/

If you are concerned about insurance coverage... YOU can fight them NOT

paying with a GOOD doctor who writes STRONG letter of medical necessity....

Also NIH is CURRENTLY doing a research study on Periodic Fever disorders and

as long as YOU enroll and go THROUGH Dr Kastner.... and get the studies done

THROUGH them, there IS COVERAGE through the government. We recently have had

this discussed... and the testing IS paid for IF you enroll and are

accepted.... We have many kids participating now and we have had MANY kids

come to our group with diagnosis of or with UNKNOWN fever disorder and

later diagnosed WITH genetic mutations.....

When an individual has a GENETIC fever disorder (NOT )

there ARE SECONDARY disorders which may occur if the individual is NOT

followed closely and or medicated. The secondary disorders occur in FMF and

with TRAPs. They DO NOT see secondary disorders in HIDs. However pain and

high fevers are significant with HIDs.

Pleeeease familiarize yourself with the information I have posted and

uploaded in the file section and then visit the various link section and go

to the site for FMF and HIDs and TRAPS.

Yes if a child has FMF or another genetic disorder.... and you attempt to

get INDIVIDUAL insurance you may have a higher premium... but a family plan

through work or when the individual enrolls as an adult for insurance

through an employer they are NOT refused.

It is similar to a diabetic with a preexisting. I am a diabetic. If I try to

get an individual plan... my rate is higher than a person who is completely

healthy.... BUT when I switch my jobs as a RN and get hospital insurance I

am fully covered. Hope that helps.

IF there is ANY chance that a child has a genetic fever disorder, as a

parent and advocate, I would hope all of us would be concerned of the

secondary KIDNEY and EYE problems that may occur and harm the child.... Also

with disorders such as FMF and the BOUTS of pain.... also in TRAPS....

without close monitoring and medication as the children and adults get

OLDER.... will cause an UNNECESSARY amount of SEVERE pain.

With FMF Amyloidosis is very prominent.... Type AA amyloidosis commonly

occurs in untreated individuals, especially in Jews of North African origin.

Patients have persistent, heavy proteinuria leading to nephrotic syndrome

and progressive nephropathy leading to end stage renal disease (ESRD).

Patients who are otherwise asymptomatic can develop renal amyloidosis as the

first and only manifestation of FMF. With increased longevity of patients

with renal failure through dialysis and/or renal transplantation, amyloid

deposits are being found in other organs as well. The prevalence of

amyloidosis varies by ethnicity.

Secondly with FMF, Abdominal attacks. Experienced by 90% of patients,

abdominal attacks start with the sudden onset of fever and pain affecting

the entire abdomen. Physical examination reveals board-like rigidity of the

abdominal muscles, rebound tenderness, abdominal distension, and loss of

peristaltic sounds. Radiographs reveal multiple small air-fluid levels in

the small bowel. The diagnosis of " acute abdomen " usually results in

laparotomy, but if not, the signs and symptoms resolve without sequelae over

24-48 hours. THIS IS RELIEVED when treated.

FMF Patients who are homozygotes for the mutation M694V or compound

heterozygotes for M694V and another disease-causing allele should be treated

with colchicine as soon as the diagnosis is confirmed, since this drug

prevents both the inflammatory attacks and the deposition of amyloid. It is

given orally, 1-2 mg per day in adults. Such patients should receive

colchicine for life.

Patients who do not have the M694V mutation and who are only mildly affected

(those with infrequent inflammatory attacks) should either be treated with

colchicine or monitored every six months for the presence of proteinuria.

Continuous treatment with colchicine appears to be less indicated for

individuals who are homozygotes or compound heterozygotes for the mutation

E148Q; colchicine should only be given to these patients if they develop

severe inflammatory episodes and/or proteinuria due to amyloidosis.

Surveillance of at-risk family members. Once a patient has been diagnosed

as having FMF and the mutations identified, it is important to offer

molecular genetic testing to all first degree relatives and other family

members whether or not they have symptoms. This is especially important when

the allele M694V is present because of the possibility that other affected

family members may not have inflammatory attacks but nevertheless remain at

risk for amyloidosis (FMF type 2). Family members who are found to be

homozygous for this mutation, or compound heterozygous for this and another

mutation, should undergo lifelong colchicine treatment, even when

asymptomatic.

TRAPS has a high incidence of Amyloidosis just as FMF.

Currently research is leading toward the use of Enbrel... and similar drugs

to assist with this. Close monitoring is REQUIRED.

Lastly, IRISITIS, Conjunctivitis, Periorbital edema are other possible

complications of FMF and TRAPS.... because of the inflammatory process seen

in these disorders, EYE problems and EYE PAIN is also commonly seen when the

individuals are NOT treated.

Differential Diagnosis

For those patients who present with recurrent fever, differential diagnosis

includes:

a.. (Periodic Fever, Aphthous stomatitis, Pharyngitis, and

Adenopathy syndrome)

b.. HIDS (HyperImmunoglobulinemia D and periodic fever Syndrome)

(autosomal recessive) is characterized by recurrent attacks of fever,

abdominal pain, and arthralgia, and is caused by a mutation in the

mevalonate kinase gene. A subgroup of HIDS is caused by another gene as yet

unknown.

c.. TRAPS (TNF Receptor-Associated Periodic Syndrome) (TNF = tumor

necrosis factor) is caused by a mutation in the TNFRSF1A gene. This mutation

results in decreased serum levels of soluble TNF receptor leading to

inflammation due to unopposed TNF-alpha action. The disease is characterized

by attacks of fever, sterile peritonitis, arthralgia, myalgia, skin rash,

and conjunctivitis. Transmission is by autosomal dominant inheritance. Some

patients develop amyloidosis. Treatment with recombinant TNF-receptor

analogues is promising.

d.. FPF (Familial Periodic Fever) (autosomal dominant). The gene for

this condition has also been mapped to chromosome 12p13. For information

about laboratory testing for familial periodic fever, see .

e.. ELA-related neutropenia, which includes congenital neutropenia and

cyclic neutropenia.

The differential diagnosis of renal amyloidosis is Muckle-Wells syndrome and

familial cold urticaria, which are probably allelic disorders caused by a

mutation in the CIAS1 gene. These diseases are transmitted by autosomal

dominant inheritance and are characterized by urticaria, deafness, and renal

amyloidosis.

For those patients who present with abdominal pain, acute abdomen from any

cause needs to be considered. These include acute appendicitis, perforated

ulcer, intestinal obstruction, acute pyelitis, acute pancreatitis,

cholecystitis, diverticulitis, and in females, various gynecological

conditions such as ectopic pregnancy, acute or chronic salpingitis, torsion

of ovarian cyst, bilateral pyosalpinx, and endometriosis.

For those patients presenting with joint pains, the differential diagnosis

includes acute rheumatoid arthritis, rheumatic fever, septic arthritis, and

collagen disease.

Patients presenting with pleuritic pain may be diagnosed as having pleurisy

or pulmonary embolism.

For patients presenting with amyloidosis, transthyretin-related amyloidosis

needs to be considered.

I hope this clarifies the NEED for genetic studies and WHY there is A HUGE

difference in treating these disorders....

God Bless,

Fran

Fran A Bulone

Mom to ph 5 yrs old

Waxhaw, NC

Owner & Moderator Group

- HIDS - TRAPS QUESTION

What are the differences between these similair diseases. I am a

little concerned that maybe since i only know about that I may

be missing one of the other diseases as a possibility. My child

complains of joint pain with her episode. Can someone break them

down for me please?

Thanks,

Hegelein

Southampton, NJ