HHT- A Time Bomb- Diagnosis

Original article in Hebrew by Yifaat Gadot, Hadar Farber, www.nfc.co.il - 27.01.2008 

One of 5,000 people has HHT, but most don't know it. The most common symptom is
nose bleeds. Since the disease involves various organs, patients frequently feel they
don't have a doctor who is familiar with all aspects of their illness.

Nose bleeds are the most common symptom of this genetic disorder which can be fatal. 

The disease is characterized by dilated blood vessels connecting arteries and  veins.
These dilated vessels can present in different forms- as red spots on skin and mucous
membranes or as dilated vessels in the lungs, brain, liver etc.

Since the disease involves several organs the patient sometimes desperately seeks care
from a single health care provider expert in all aspects of the disease.

100 years after the description of the disease, HHT patients are often still not diagnosed
since many doctors are not aware of this disease.

Professor Bob White, a renowned world expert in  HHT and founder  of many of the 28 HHT centers around the globe came to Israel in order to raise awareness of this disease and to
seek funds for an Israeli HHT center. Dr. White will also be the guest of honor at the annual meeting of the Israeli HHT foundation.

Dr. White will attend the HHT clinic and will be involved in the care of patients. In the 1st week
he will examine patients while the 2nd week will be dedicated to those who need treatment.

Dr. Mei-Zahav, a pediatric pulmonologist at Schneider Children's Medical Center of Israel,
will assist Dr. White. Dr. Mei-Zahav worked in the HHT clinic in Toronto and collaborated
with leading researchers in this field. While in Toronto Dr. Mei-Zahav built a unique clinic,
aimed to assess and treat children with a family history of HHT.   

Knowing HHT
Osler-Weber-Rendu or as it is called today- HHT, is a genetic hereditary disorder. A child of
a parent with HHT has a 50% risk of inheriting the disease. The prevalence of the disease is estimated at 1:5000.

Early Diagnosis
Patients with this disease can remain asymptomatic for many years or even for life.
Children and adults can remain asymptomatic until presenting with life threatening events. Strokes, pulmonary bleeding and respiratory insufficiency were observed from infancy.

Since symptoms such as nose bleeds are frequent in the healthy population, clinical criteria
for HHT diagnosis were established:

  • Nose bleeds- appear in 95% of patients and worsen with age.

  • Dilated vessels in skin and mucous membranes.
    Typical distribution: nasal mucosa, lips, tongue, face and fingers.

  • a 1st degree relative with a confirmed HHT.

  • Visceral lesions- lungs, liver, brain, spine or gastrointestinal tract. 

The presence of two criteria is considered as "suspected HHT"; while with 3 criteria a definite diagnosis of HHT can be established. 

Rescue lives
In an interview with Dr. White he stressed that HHT is a ticking time bomb. Unlike other diseases  such as diabetes or cancer where cure is not always possible ,in HHT treatment can save lives.

Dr. White describes the disease as an 'elephant of which each person only sees one aspect': each specialist treats his particular symptom of the disease- in case of nose bleeds the patient goes to the ENT surgeon, whereas the  gastroenterologist is the treating physician if there is a gastrointestinal bleed. However, no one sees the whole "elephant", all symptoms together.

Dr. White has this story of a child with frequent nose bleeds: A simple story that could have eended with paralysis or even death due to dilated vessels in the lung and brain. A simple, painless procedure prevented these complications and saved the child, and a visit once every
5 years is the only follow-up required. 

Another case which demonstrates the importance of a HHT clinic is the story of an athletic
man, in his fifties, who suffers  seizures. An MRI revealed an old infarct. Further work-up revealed
a pulmonary arterio-venous malformation (AVM) through which a blood clot crossed, reaching
the brain and causing this infarct. "He  might have woken up with an extensive stroke" says
Dr. White. Fortunately, the AVM was occluded by insertion of coils via catheterization,
performed by Dr. White and Dr. Elhanan Brukheimer -an interventional cardiologist at
Schneider Children's Medical Center and part of the team at the Schneider HHT clinic.

In the HHT clinic Dr. White has treated "classic" patients, as he describes them, with nose
bleeds and a family history as well as other patients with only nose bleeds or intestinal bleeds who did not meet the criteria for HHT.

Funding required
Dr. White and Dr. Mei-Zahav have recruited several expert physicians from different fields to
build together a center that will treat all aspects of HHT, and they continue to recruit more physicians to this center.

28 centers have been established around the globe treating HHT patients.

One of the biggest centers is located in Toronto, Canada. Over 800 adults are being followed
in the adult HHT center, and 130 children in the pediatric center. Life-threatening complications were observed in adults as well as in children.

A HHT center in Israel will improve the care of an estimated 1200-1400 undiagnosed HHT
patients, allow genetic counseling and prevent life-threatening complications. 

Genetic Analysis – not in Israel
Genetic testing for HHT is available, but is recommended only in families with a member
known to have clinical HHT.

These tests are performed in only a  few laboratories around the world. They are not yet
available in Israel, and have to be sent abroad. Costs are higher for testing the first family
member and finding the mutation. It becomes much cheaper after the mutation is discovered.

In summary, Dr. White emphasizes that most complications can be prevented and time
is critical.    

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