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News

Nosebleeds may signal rare hereditary disorder that attacks multiple organs and leads to strokes

Yale University : 16 November, 2000  (New Product)
When epistaxis or nosebleeds occur in multiple members of one family, they are an important clue to a genetic disorder of the blood vessels called Hereditary Hemorrhagic Telangiectasia that can lead to strokes and other symptoms, Yale researchers report in two new studies.
'The first study is the largest to show that HHT can also involve the liver, as well as the lung, brain and nose,' said Robert I. White, Jr., M.D., professor of diagnostic radiology and director of the Yale Vascular Malformation Center. 'The second study described HHT with lung involvement and the relationship to strokes and brain infections (abscesses). While strokes are most commonly due to heart disease or hardening of the carotid arteries, this study shows that the cause of strokes in some people may be due to a symptom of HHT.'

HHT or Rendu-Osler-Weber Syndrome affects 1 in 10,000 people and is inherited by autosomal dominance, which means there is a 50 percent chance of each child inheriting the disorder from a parent affected by HHT. Within the same family, HHT patients can have a variety of symptoms, including arteriovenous malformations, which are direct connections between arteries and veins that lack the capillaries necessary to connect these blood vessels. AVMs can occur in the nose, brain, lung, liver and stomach.
In the first study, published in a recent issue of the New England Journal of Medicine, White and a team of Yale investigators studied 19 HHT patients who had serious liver disease. These patients had nosebleeds and liver symptoms, such as shortness of breath due to increased blood flow to the liver.

'This study is one of few to look closely at the liver's involvement with HHT and its symptoms,' said White. 'Liver transplantation is the best chance of improving the condition, but is rarely necessary.'

Patients with symptoms due to liver involvement all had nosebleeds, as well as shortness of breath or abdominal swelling, and stomach bleeding due to AVMs within the liver. After two to four years of medical therapy to treat HHT symptoms, most responded and stabilized or improved.

In the second study, published in Neurology, researchers describe the lung-brain relationship in HHT. When a person with HHT has lung involvement or pulmonary AVM, the lung loses the filtering capacity for small blood clots and bacteria.

Results showed that patients with a single PAVM had a 25 percent risk of developing a stroke or brain abscess due to a passage of a clot or bacteria through the PAVM.

'In patients with multiple PAVMs, the risk of these events doubled,' said Michael Moussouttas, M.D., a neurovascular neurologist and colleague in the Yale Vascular Malformation Center. 'We now have an effective and safe non-surgical technique for managing PAVMs, which includes closing the malformation with a catheter technique that involves balloons or coils. This is essentially the opposite of coronary angioplasty, in which an artery is opened. Once the direct connection is closed, the patient is no longer at risk for stroke.'

Each year, White and his colleagues at the Vascular Malformation Center treat about 80 patients with HHT and newly discovered PAVMs. Other centers in the United States and Canada also treat a slightly smaller number of patients. Centers based on the Yale model are also located at Odense University in Denmark; Akita University in Japan; the University of Melbourne in Australia; the Hammersmith Hospital and Royal Postgraduate Medical School in London; the St. Antonius Hospital in Utrecht, Netherlands; and two new centers in Italy at Bari and Milan.
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