The 4^th meeting of the Spanish HHT association was held the 2nd and 3rd November in Santander (North Spain). The plenary meeting on November 3^rd was preceded by a clinical session imparted by Dr. Claire Shovlin (Hammersmith Hospital, London) in the morning of November 2. The lecture took place at Sierrallana´s Hospital, the reference hospital for HHT in Spain. Her lecture was entitled “New perspectives in Haemorrhagic Hereditary Telangiectasia (HHT)”.

On November 3, the general session was open at 9 am at the conference room of the Magdalena`s Palace, chaired by Dr. Jose Sanchez, president of the HHT Spanish association, Mr. Oscar Caberol, secretary, and Mr. Manuel Machado, HHT association´s accountant.

DR. LUISA BOTELLA- C.I.B.

The research advances on the disease were presented by Dr. Luisa María Botella, from the Centro de Investigaciones Biológicas, Madrid, belonging to the Council Research of Spain. She showed the results obtained in the last 18 months, on molecular mechanisms altered in endothelial cells cultured from HHT patients. These show 277 upregulated and 63 downregulated genes, compared to healthy donor cells. The altered genes are involved in processes such as angiogenesis, cell migration, and actin cytoskeleton, responsible for the particular shape of the endothelial cell.

Afterwards, the current research projects were mentioned:

1. Cell therapy studies carried out in mice with endothelial cells derived from peripheral blood endothelial precursors.

2. HHT involvement on the immune system comparing gene expresión in HHT immune cells and healthy donors. These studies will be completed with a conditional endoglin knock out in the myeloid lineage.

3. Differential expression analysis of soluble factors in HHT plasma compared with healthy donor plasma. The presence of factors expressed at different levels in HHT patients may serve as a diagnosis tool, and to open new therapeutic approaches.

DR. ROBERTO ZARRABEITIA- SIERRALLANA

Dr Zarrabeitia, from the internal medicine department of Sierrallana, carried out a comparison between the screening protocol used in Sierrallana for HHT patients and the protocols used in other reference centres, mainly USA. Dr Zarrabeitia stressed some original aspects from the Spanish protocol conferring the Spanish center its own character. 

In addition, Dr. Zarrabeitia explained the treatment recommended for each HHT clinical manifestation. He pointed out the types of treatment used for epistaxis, from the Argon laser coagulation to the septodermoplasia, leaving open the possibility of scleotherapy as an intermediate treatment.

He also described pharmacological therapies using tranexamic acid, an antifibrinolytic (procoagulant) agent, as well as the estrogen therapy with raloxifen recommended in postmenopausic women.

He exposed the satisfactory results obtained in 14 HHT Spanish patients using tranexamic acid. This study has been published in the Spanish journal, Acta Otorrinolaringológica española, and in the german magazine, Thrombosis and Haemostasis, where the clinical results were completed with laboratory assays. The results obtained in 11 postmenopausic women with raloxifen were also successful. All of them had a decrease in the epistaxis frequency. Both studies are supported by the experimental results obtained at the Centro de Investigaciones Biológicas  in Madrid,  in the laboratory bench.

Finally, he described the protocol for the pediatric screening, avoiding radiation tests and incorporating capillaroscopy to detect small telangiectasia in fingers.

DR. CLAIRE SHOVLIN – LONDON

Next talk was presented by Dr. Claire Shovlin, from Hammersmith Hospital London, who shared retrospective and prospective data on pregnancy complications in HHT women. The main message of her presentation was to stress the fact that most pregnancies are completely normal.

Pregnancy problems may be derived from blood vessel dilatation, which occurs in any pregnancy, this would lead to the growth of lung or brain arteriovenous malformations, if present in the patient. As a consequence these might bleed.

Dr Shovlin’s advice was clear: “any pregnant HHT patient should go to the nearest emergency unit, when she has symptoms such as abnormal headaches, hemoptisis, or lack of normal breathing capacity.  The patient may require an emergency embolization, but the results will be satisfactory. After 15 years studying pregnancies in HHT women, Dr. Shovlin may assess that the percentage of complications is really low, 1.5%, and they can be treated without leaving sequelae in the mother or in the newborn.

It is advisable to avoid long labors in HHT patients, and for this purpose, the use of mechanical, i.e. forceps, or surgical methods, caesarean, is recommended.

The final message was very optimistic: “HHT pregnant women should enjoy their pregnancies as any other women”.

Concerning babies, parents should know that in 50% of the cases, the baby may have HHT, therefore the pediatrician should write in the newborn medical file “putative HHT”. If the child has no symptoms such as “being very tired”, “being breathless” or “having frequent headaches”, he does not need any special medical screening until puberty. At this age, it is recommended to screen for pulmonar arteriovenous malformations, and discard them.

DR. DE PABLO – IVI BILBAO

The first part of this plenary session finished with the presentation of “embryo´s preimplantational selection”, by Dr Luis de Pablo, from the “in vitro” fertilization institute of Bilbao. In spectacular pictures, Dr. de Pablo showed the necessary steps to carry out the process, whose first part would be common with the “in vitro” fertilization technique. In the latter, oocytes are obtained by ovary punction of the hormonally treated mother. Once the oocytes are obtained, these are in vitro fertilized either, by incubating them in the presence of sperm or by direct microinjection of a spermatozoid into the oocyte cytoplasm. (ICSI). Alter cleavage, 8-cell-stage embryos are selected to extract a cell (blastomer) and to analyze DNA by sequencing.

It is absolutely necessary to know before hand the mutation of the family and the diagnosis must be performed within 48 hours. Once the embryos without mutation are know, 2 or maximum 3 of them, are implantated into the mother’s endometrium.

The successful outcome of this technique will allow the parents to be sure the newborn children will be healthy, even when, either the  mother or the father have HHT.

DR. DARIO MORAIS – H. UNIVERSITARIO (VALLADOLID)

Alter a coffee break, the session continued with the presentation of Dr. Darío Morais, an otorrhinolaryngologist from the Hospital of Valladolid´s University. His presentation dealt with sclerotherapy techniques, consisting of the injection into the nasal mucosa of a sclerosing product, etoxiesclero or polidocanol, to stop epistaxis.

The minor surgery is carried out in the consult, under partial or total anesthesia. The latter is recommended when there is a risk of nose bleeds.

The recovery takes less than 24 hours.

The treatment may be repeated every 6 months, and the experience of Dr. Morais, with HHT patients is publiched in Acta Otorrinolaringológica española, where successful results with HHT patients are shown.

DR. URBAN GEISTOFF- KOLN (GERMANY)

To complete the previous presentation, Dr. Urban Geistoff from Koln, Germany, made a practical demostration of how to use an intranasal devise to immediately stop nose haemorrhages.

This procedure is of choice in embarrasing situations like in a travel or a meeting.

The devise, Rapid Rhino RR750, from Arthocare, is exclusively distributed for Otorrhinolaryngologists, and is made of a stopping material, covering the nasal mucosa as a thin film, and protecting the most sensitive sites of it.

D. IGNACIO GONZÁLEZ RIVERA, LAWYER

Finally, D. Ignacio González Rivera, lawyer belonging to  Rivera-Coleman office from  Coruña, explained legal questions related with HHT.

D Ignacio González talking in a comprehensive and understandable language made a summary of the different disability degrees according to the Spanish law. He focused his dissertation in those more directly related to the HHT affected patients:

-Total and permanent disability

-Absolute and permanent disability

The last one, the absolute disability is difficult to get, and only in 4 HHT cases was this type of disability obtained in Spain.

The most common disability among HHT patients is the total disability

Mr. González Rivera stressed the importance of strengthen the “social factor” in HHT. Unfortunately, this disease does not potentially reduce the life span but it its quality. Blood is always an appealing factor, and HHT patients have serious problems, i.e. when attending in public, or even among the colleagues at work. This fact should be emphasized, according to the lawyer, in order to get any kind of disability.

He pointed out the importance of preparing the legal procedure and the putative trial. For this purpose he advised to go to the medical services, every time one is bleeding, so that there is a documented report of the number and frequency of bleeding episodes. In this way one can demonstrate the impact of the “social factor”, previously mentioned.

On this same subject, Dr. Jose Sanchez made some comments, since he is doctor in legal medicine, expert in this area, and HHT patient at the same time. He agreed with the main criteria exposed by Mr. Gonzalez Rivera.

In addition, he also recommended to those HHT patients starting a legal process, to have the medical report of a private doctor, “an external expert”, outside the social security system, so that the general evaluation may be more objective.

TURN FOR THE SECRETARY OF THE HHT ASSOCIATION, MR. OSCAR CABEROL

Next, the secretary of the Spanish HHT association, Mr. Oscar Caberol, exposed a summary of the main events occurred in the association in the last 18 months.

We are now, more than 380 associates, out of them 139 are the so called, “heads” of HHT families. That means that the rest of associates are relatives or friends of these “heads”, and they are not always HHT affected.

These 139 “heads” are receiving informative dossiers from the Spanish HHT association.

The secretary shared a double message with the associates: Hope and Optimism.

The message is based on the tight and reliable collaboration with the reference Hospital in Sierrallana and with the scientists of the Centro de Investigaciones Biológicas.

Mr. Caberol means the HHT patients may be optimistic with the current management of the disease in Spain, and in the hope of finding a cure for the disease in a near future.

To conclude, Mr. Caberol showed a summary of the chapter from the TV series House, where they talk about  a patient with HHT.

NEW BOARD COMMITTEE FOR THE SPANISH HHT ASSOCIATION

The president Mr. Jose Sanchez, explains to the assembly that he leaves the presidency alter 5 intense years working in an altruist manner for the association. However, he expresses his interest in the creation of a European HHT patient association, and encourages the new board of directors to work for it.

He asks for candidates, and Mr. Santiago de la Riva, postulates himself as a candidate for the vacant position. He introduces his team:

Secretary:  Mr. Oscar Caberol

Accountant: Mr. Manuel Machado

Representant: Mrs Ana María Carrera

Representant: Mr Martín Jiménez Fernández

Representant :  Mrs Montse Vives

Medical representant : Dr. Roberto Zarrabeitia

Scientist representant:  Dr. Luisa Botella

Four members of the Board will constitute the steering committee of the association to elucidate daily and  urgent matters:

Mr. Oscar Caberol

Dr. Luisa Botella

Dr. Roberto Zarrabeitia

Mr. Santiago de la Riva

Naturally, all the important decisions will be made by agreement of the boarding committee.

The compromises of the new committee are:

A meeting of the Steering committee, at least once every six months.

A meeting of the Boarding committee, at least once a year.

The next general assembly of the association will be in 18 months.

Modify, strengthen and improve the association web, since it is the best option to be known by new patients, and to inform and assist the associates.

The informative dossiers will be sent to the associates by mail, at least once every six months, as the Secretary of the association was doing currently.

To work out the possibility of sharing a European proposal on HHT.

Since there are no votes against the candidate, the new Boarding Committee is constituted, being operative until the next general assembly. 

The meeting is closed, thanking to the former president by his interest and work during the last five years. Some associates comment the need to dedicate more time in next assemblies to speak about the association.

Lunch is shared at Hotel Victoria, and the different speakers are given a present as  token of gratitude. We thank for the assistance of HHT german association representants. At the same time, the presence and help in translation of Sebastián, a young german associate is recognized.

Santander, November 3rd

D. Oscar Caberol                                               D. Santiago de la Riva

Secretary                                                                    President