MHAUS Newsletter, June 2006
In this issue:

New In-Service Kit for Malignant Hyperthermia Response

(Sherburne, NY) - During the 25 years of its existence, the Malignant Hyperthermia Association of the United States (MHAUS) has led the way in reducing the incidence of malignant hyperthermia (MH) incidents and mortality through member contributions and the resulting research.  That research has produced invaluable tools such as the MH Hotline, the 24/7 availability of MH consultants for real-time advice during suspected MH cases, and patient and physician informational brochures.

The latest release is the comprehensive In-Service Kit, a new, stimulating way to prepare your OR and PACU to manage and counsel patients and their families who are subject to this disorder.  MH is an inherited metabolic disorder of muscle, triggered by certain general (gas) anesthetics.  If not recognized early enough, death may occur.

Henry Rosenberg, MD, CPE, President of the Malignant Hyperthermia Association of the United States, says it is more than symbolic that the new In-Service Kit is available while MHAUS celebrates 25 years.

"People are much more aware of MH today because of the forward-thinking founders and contributors to MHAUS, beginning a quarter of a century ago," says Dr. Rosenberg.  "The In-Service Kit is a primary result of their efforts, and the efforts of those who contribute.  The generosity of our members is directly related to the dropping rate of mortality from MH.  No doubt the new kit, along with our other materials, will help MH incidents and mortality drop even further."

Dr. Rosenberg calls the new In-Service Kit "an MH recognition tool and corresponding plan of action, offering medical professionals a thorough review in a convenient package."

The 2006 version includes an entertaining 26-minute video in DVD or VHS format, a mock drill and new information on dantrolene mixing, patient safety, and risk management, and the latest information on the molecular genetic basis for the disorder.  An information booklet with a test rounds out the kit, offering 1 CEU for nurses and 1 CME for physicians.  The test and Certificate of Completion is accessible at www.mhaus.org.

For more information, please visit www.mhaus.org or call MHAUS at 607-674-7901.
For the past 25 years, MHAUS, a not-for-profit organization, has been fulfilling its mission of eliminating death and disability from MH and similar disorders. The organization provides information and education in multiple formats either free or at a low cost. MHAUS has contributed to the understanding of this complex disorder through extensive data collection and support of scientific research.

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Not One, But Two Molecular Genetics Testing Centers Now Available for Malignant Hyperthermia

(Sherburne, NY) - In perhaps the most significant symbol of the dramatic progress made during its first 25 years of existence, the Malignant Hyperthermia Association of the United States (MHAUS) has made two long-anticipated announcements about a new method of testing for malignant hyperthermia.  There are now two centers to help diagnose MH susceptibility through molecular genetic testing.

First, in 2005, it was announced by MHAUS that PreventionGenetics ( www.preventiongenetics.com) would begin the testing.  PreventionGenetics is a biotechnology company in Marshfield, Wisconsin concentrating on molecular genetic diagnosis and DNA analysis.

Then, in December of 2005, the molecular genetics test became available at the University of Pittsburgh Medical Center (UPMC), Center for Medical Genetics, (http://path.upmc.edu/divisions/mdx/diagnostics.html) a CLIA-certified laboratory, which has broad experience testing for and interpreting DNA sequence variants in other disorders.

MH is an inherited metabolic disorder of muscle. Ordinarily there are no outward signs of any problem, but when MH-susceptible individuals are administered certain general (gas) anesthetics and a particular paralyzing drug, they may develop changes in metabolism that, if not recognized, can turn deadly.  Since it runs in families, children, parents and siblings of an MH susceptible have a fifty percent chance of inheriting MH.  Aunts, uncles and grandchildren of the susceptible have a twenty five percent chance. MH affects as many as one in ten thousand people.

 Until now, the only test for MH susceptibility has been based on taking a muscle sample at a specialized MH diagnostic center (see www.mhaus.org for a listing).
Even with the new test, the muscle biopsy remains the most reliable test, according to Henry Rosenberg, MD, CPE, President of MHAUS.  "The genetics test does not take the place of the current muscle biopsy, but it could identify the fifty percent of those at risk in an MH susceptible family.  It is not a screening test.  However, it is a first step. Further work will increase the sensitivity of the test for those without a family history of MH. Those with the DNA change as identified by the blood test are virtually assured of being at risk for MH. However, those who do not have a known mutation may also be at risk because not all mutations are identified."

 People who should consider having the genetic test are:

a.      those who have been tested positive by the muscle biopsy,
b.      those who have been found to have a mutation causative for MH under
         a research protocol,
c.      relatives of those with a known mutation for MH,
d.      relatives of those who have been tested positive by the muscle biopsy,
e.      those with a very high likelihood of having experienced an MH
         episode, in the judgment of a physician with experience in MH
         diagnosis.

Malignant hyperthermia testing is supported in the UPMC Center for Medical Genetics by Deanna Steele MS, a Board-certified genetic counselor and by Barbara Brandom, MD, a board-certified anesthesiologist who has extensive experience supporting physician and patient questions regarding malignant hyperthermia.

Physicians and patients seeking more information can contact Ms. Steele at 800-454-8155 or 412-641-4168, Eric W. Johnson, PhD at 715-387-0484, clinicaltesting@preventiongenetics.com, or www.mhaus.org to get detailed answers to questions about the test.  Information is also available in Spanish.

A new brochure on the testing is online and can be ordered through eShop.

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MH Mini-Conference is for Everyone

(Westminster, MD) - Are you a medical professional who needs to further prepare for a malignant hyperthermia (MH) episode in your OR?  Are you a health care student who may be familiar with MH but has not experienced an actual case or perhaps even a mock preparation?  Or are you a member of the public who suspects that your family may be susceptible to MH?

If you answered yes, or even maybe, to any of these questions, an MH mini-conference will be extremely beneficial to you.  The Malignant Hyperthermia Association of the United States (MHAUS), Carroll Community College and Carroll Hospital Center are presenting the conference on Saturday, July 15, 2006, from 9:30 am - 2:00 pm at Carroll Community College, 1601 Washington Road in Westminster, Maryland.

There will be medical and scientific updates, with an opportunity to ask questions of MH experts, as well as patients and their family members who have experienced the effects of MH, patients like Lydia Friedman, who became aware of MH only when her daughter had an immediate reaction to the anesthesia while having her tonsils removed.  The surgery was halted immediately and Kimberly was saved when the senior anesthesiologist recognized the signs of MH.

"I had never heard of MH but after the doctor came out and explained what had occurred, I knew I needed to find out more," recalls Ms. Friedman.  "The doctor told me about MHAUS and recommended that Kimberly have a muscle biopsy.  After the biopsy, Dr. Henry Rosenberg advised us that Kimberly was positive for MH.  I contacted MHAUS and not only asked for information but if I could volunteer."
Volunteer she did.  Ms. Friedman has discussed her family's experience in the news media, helps coordinate MHAUS's Patient Liaison Committee, and has become the driving force behind the MHAUS mini-conferences.  

The conference presenters are Richard Kaplan, MD, of Children's National Medical Center, Charles B. Watson, MD of Bridgeport Hospital, and Henry Rosenberg, MD, President of MHAUS.

You can register online at www.mhaus.org or call the MHAUS office at 607-674-7901.

The fees for attending are:
$25.00 - Medical Professionals (CEU credit will be offered)
$10.00-- Patients

MHAUS accepts: Check, Credit Card (American Express, Visa, Mastercard or Discover)

A continental breakfast and lunch will be provided, and parking is free.

For additional information or questions, contact Fay Kellogg at MHAUS by phone at 1-800-986-4287, fax 607-674-7910 or email fay@mhaus.org. 

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