We are the combination of four hospitals: the General Hospital, the Children’s Hospital, the Women’s Hospital and the Traumatology, Rehabilitation and Burns Hospital. We are part of the Vall d’Hebron Barcelona Hospital Campus: a world-leading health park where healthcare plays a crucial role.
Patients are the centre and the core of our system. We are professionals committed to quality care and our organizational structure breaks down the traditional boundaries between departments and professional groups, with an exclusive model of knowledge areas.
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The commitment of Vall d'Hebron University Hospital to innovation allows us to be at the forefront of medicine, providing first class care adapted to the changing needs of each patient.
Colposcopy allows an in-depth examination of the uterus, or cervix, for early identification of possible lesions that could be precursors to cancer or cancerous lesions. This is done using a special microscope called a colposcope, which is used to find out the cause of an abnormal cytology.
During the exploration, gynaecologists study the cervix and decide whether a biopsy should be taken and from what area. They can also remove certain tissues, if necessary. For the biopsy, a small sample is taken and sent to the laboratory to examine the cells. From this examination, the doctors can diagnose and decide on treatment, if necessary.
This technique is used for early detection of lesions that could trigger cancer of the cervix and also to take samples to diagnose and even remove tissues.
This exploration also lets us diagnose other sexually transmitted infections in addition to HPV.
To perform the test, the patient should be placed on the gynaecological stretcher with legs in stirrups.
The doctor then inserts a device inside the vagina, the speculum, which separates the walls, and then brings the colposcope, which lets them see the area to be examined. If they detect anomalous areas during examination, they can decide whether to take a biopsy of the tissue that must be analysed later with a microscope in the laboratory.
Anomalies detected in a cervical biopsy are called cervical intraepithelial neoplasms (CIN) and are classified as:
Possible discomfort while taking the sample and, sometimes, light bleeding that can last up to 3 or 4 days.
Cervicovaginal cytology, also called a Pap smear test, is used to take a sample of cells from the wall of the uterus, or cervix, to be analysed to detect abnormal changes in the cells there due to the human papillomavirus (HPV), before cancer or infections develop. If the test shows the presence of HPV, the doctor may request other tests, such as a colposcopy.
Cervical-vaginal cytology is used to detect cervix cancer early on, as well as other precancerous abnormalities of the cervix to help us provide early treatment, which increases the chances of recovering from the disease.
The patient lies on a stretcher with their legs in stirrups for gynaecological examination, as the doctor performing the test inserts a speculum into the vagina. This device allows us to separate the walls of the vagina to see the cervix.
The doctor performing the test can then extract a sample of the walls of the vagina or vaginal exudate at the back of this area. A second sample is taken from the external part of the cervix, the ectocervix, and another sample from the cervix canal that connects the interior of the uterine cavity with the vagina, also called the endocervix.
Finally, these samples are sent to the laboratory, where they will be analysed with a microscope.
To do this test, no preparation is necessary beforehand, though it is recommended that the patient not be on her period, to avoid possible errors.
There are no risks, though sometimes bleeding may occur when the sample is taken, but this will not usually last more than one day.
The patient should try to remain relaxed during the test, since if the vagina contracts, the test can cause some discomfort.
Gynaecological ultrasound is a technique that uses ultrasound to visualise the inside of women’s genitalia.
It is performed preferably via the vagina or abdomen, the transperineal or transrectal method being less frequent.
Via the vagina: a small transducer is inserted into the vagina, no preparation is required, and the urinary bladder needs to be empty. This is the preferred route.Via the abdomen: the patient must drink a litre of water one hour before the scan. It is performed when: the patient has not had sexual intercourse, when there is significant genital atrophy or to evaluate gynaecological tumours larger than 12 cm, in which the vaginal route loses definition.
The ultrasound plays a fundamental role in detecting benign and malignant pathologies in gynaecology: such as endometrial pathology, myomas, adnexal lumps, urinary incontinence and oncological pathology. At Vall d'Hebron, this Unit is part of the Gynaecology Department. Early diagnosis is essential, as in ovarian cancer.
The Ultrasound should not be performed every year, the frequency will be determined by the gynaecologist and can be of use to all units in the Gynaecology Department: Oncology, General Gynaecology, Pelvic Floor, Laparoscopy and Endoscopy. The Doppler allows us to analyse vascularisation of suspected malignant tissue, in cases of abundant vascularisation and low resistance rates.
Hereditary angioedema is such a rare disease that it is little-known even among healthcare workers. This means that in this case the patients themselves particularly need to know how to act in the event of an emergency, especially when they are not in their usual environment or are far away from their medical team.
It is advisable, as far as possible, to avoid possible triggers or aggravators of attacks:
The following symptoms indicate a suspected case:
The doctor must make a correct differential diagnosis in order to rule out other causes, such as appendicitis.
In this case it is important to remain calm and follow the doctor’s instructions. Here is some general advice:
1. Ask someone to help you explain what is happening to you.
2. Have the clinical report issued to you by your doctor at the ready.
3. If you have rescue or emergency medication (intravenous Berinert® or Cinryze®, or subcutaneous Firazyr®):
4. Go to your nearest health centre for emergency treatment.
5. Make an appointment with your specialist once the immediate crisis has been dealt with.
In the case of a significant symptom burden in type I and II angioedemas, C1-INH may be administered as a prophylaxis.
Can I give blood?
It is not advisable for patients with hereditary angioedema of any type or acquired C1-inhibitor deficiency to donate blood.
Long or foreign tips
We recommend you take an up-to-date copy of the clinical report issued by your doctor with you. It is a good idea to have the report translated into the language of your destination, or English.
Find out where the nearest healthcare centre is.
Always carry rescue or emergency medication with you and make sure it has not expired. Have your medical report to hand at security controls at airports or railway stations to avoid problems.
Diet
You do not have a follow a special diet because it is not an allergic oedema, and it is not caused or triggered by a food allergy.
Diet does not have any impact on the evolution of the disease. You should, of course, follow the healthy diet recommendations issued to everyone.
Hereditary angioedema is a rare genetic disease that affects approximately one in 50,000 people. It is usually an inherited disorder and is characterised by the accumulation of fluids outside the blood vessels, causing swelling of the face, hands, feet, extremities, genitals, gastrointestinal tract or the upper respiratory tract.
Because it is a low-prevalence disease with symptoms similar to those of other diseases and is therefore difficult to diagnose, it is important for there to be reference centres so that suspected and diagnosed cases can be centralised.
The inflammation that hereditary angioedema causes does not present associated itching and may last for 1 to 5 days. These symptoms are developed as a result of the malfunction of certain proteins that help maintain the normal flow of fluids through the blood vessels (arteries, veins and capillaries).
The seriousness of the disease shows a significant degree of variance. Angioedema episodes may be extremely incapacitating and have a serious effect on the patent’s quality of life. When it occurs in the region of the mouth or neck, the sufferer may die of asphyxia if they are not given preventive treatment.
In most cases symptoms start to manifest in childhood and/or puberty and continue throughout adult life.
There are different types of hereditary angioedema and they are classified according to whether or not they present a deficiency of the C1 component of the complement (C1-INH).
Swelling of the subcutaneous tissue in any part of the body, although it is most commonly found in:
Depending on the affected area, the symptoms may range from local discomfort to invalidity of the affected extremity, discomfort or pain when swallowing, voice changes, loss of voice, or dyspnoea (shortness of breath).
At one time of their life up to 50% of patients may present an episode that affects the throat, which if not immediately treated could lead to asphyxia.
Hereditary angioedema affects people who exhibit a mutation in certain genes, such as SERPING1, F12, PLG, KNG1 and ANGPT1. As it is a dominant autosomal disease, an affected patient has a 50% chance of passing it on to their children. Given that it is a genetic disorder, it is common to find that more than one member of the family is affected.
Depending on the type of mutation, it may affect men and women equally (types I and II) or women more frequently (HAE-nC1-INH). Cases of hereditary angioedema without C1-INH deficiency are usually associated with hyperoestrogenic states, such as pregnancy or the consumption of contraceptives that contain oestrogens.
The Allergology Clinic first assesses patients who present with recurring angioedema episodes and cases in which there are family members who also suffer them. Subsequently, a blood analysis is requested to determine the levels of the components of the complement, including the inhibitor of component C1 (C1-INH) and, finally, the diagnosis is completed with a genetic study.
Treatment depends on the number of attacks, the severity of the symptoms and the degree to which quality of life is affected. Treatment is always on a case-by-case basis and may be acute, which means the subcutaneous of intravenous administration of medication at the time of the angioedema attack, or preventive, to stop attacks occurring so frequently. The latter treatment is usually recommended for the patients who suffer the most episodes.
Angioedema treatments can be self-administered by the patients.
In the case of surgery, endoscopies, tooth extractions or certain dental procedures, treatment must be given in advance to prevent an attack.
Blood analysis normally forms part of the diagnostic procedure. Depending on the treatment, during monitoring it may be necessary to perform an abdominal ultrasound and draw blood for analysis.
Factors known to possibly trigger attacks should be avoided as far as possible:
Genetic predisposition to cancer is an increased risk of developing cancer due to alterations in specific genes. It is not inherited cancer, but a predisposition. Suspected when cancers occur in multiple generations, at young ages, or multiple tumors in one person. Genetic testing uses blood, saliva, or biopsy and guides early detection, prevention strategies, intensive monitoring, and sometimes prophylactic surgeries.
Cancer is characterised by excessive and uncontrolled cell growth that invades and damages tissues and organs. It is a multi-factor illness that is caused by a combination of genetic and environmental factors.
Most cancers are sporadic, but some 5 to 10% of cancer diagnoses involve a hereditary genetic origin. This means that specific genes, called cancer susceptibility genes, present germ cell abnormalities (found throughout the body) that increase the risk of developing cancer.
It's important to point out that cancer is NOT hereditary, but the predisposition to developing it is. Having genes that are associated with cancer susceptibility simply means you have a higher risk of having the disease, not that you will have cancer for sure. This genetic predisposition can be transmitted from parents to offspring, normally following an autosomal dominant inheritance pattern, meaning that there is a 50% chance of passing the gene to descendants.
In some cases, the genetic susceptibility is individual and caused by a combination of multiple genetic differences (a combination of low-risk polymorphisms or allele variants). Identifying a genetic abnormality known to increase the risk of developing cancer in a family allows its members to benefit from early cancer detection and prevention measures, as well as to seek specific, targeted treatments against that type of cancer.
There are different genes associated with an increased risk of falling ill with cancer. Among the most frequent and well known are the genes:
The genes APC and MUTYH, linked with familial adenomatous polyposis –the formation of a large number of adenomatous polyps (non-malignant tumours) in the colon– and colon cancer.
There are different clinical criteria that may arouse the suspicion that an individual has a hereditary genetic abnormality that predisposes them to certain kinds of cancer, such as:
When these criteria are detected, they are referred to the genetic assessment unit specialising in cancer, where the need to perform a genetic study to rule out the possibility of a hereditary predisposition to cancer will be determined. This multi-disciplinary unit is staffed by physicians who are specialists in hereditary cancer and genetic counsellors. Here, an individual risk assessment, genetic tests, and follow-up for the carriers of the gene are carried out.
There are different syndromes that involve a genetic predisposition to developing cancer. For example, there are different genes that can make someone have a genetic predisposition to breast cancer. The most common are:
The genetic predisposition to developing colon cancer can be divided into two types: polyposic and non-polyposic.
There are different types of polyposis colon cancer. Familial adenomatous polyposis (FAP) presents the highest risk for developing colon cancer. It is characterised by hundreds or thousands of polyps in the colon, and sometimes also throughout the entire digestive tract. These polyps are not malignant lesions, but they can degenerate and develop into cancer. Thus, individuals with FAP end up developing colon cancer if these polyps are not removed. Pathogenic alterations in the APC gene are responsible for this condition. In addition, carriers of APC gene mutations are also at risk for other tumours or conditions (hepatoblastoma, thyroid tumours, and desmoid tumours).
The main syndrome entailing a predisposition to non-polyposis colon cancer is Lynch syndrome. This syndrome entails a high risk of developing colon and endometrial cancer, along with a risk of developing ovarian, bile duct, urinary tract, and gastric cancer. It is caused by mutations in the genes that are in charge of DNA repair, specifically, those tasked with mismatch repair, namely MLH1, MSH2, MSH6, PMS2, and EPCAM.
We can also find a genetic predisposition to endocrine tumours. Pheochromocytomas and paragangliomas are rare tumours that are caused by a hereditary genetic abnormality in 40% of cases. These can be caused by abnormalities in the succinate-dehydrogenase-encoding genes (SDHx), RET gene (MEN2 syndrome),MEN1 gene,NF1 gene (neurofibromatosis type 1) or FH gene, among others.
A genetic diagnosis is usually done with a blood sample, but a saliva sample or skin biopsy can also be used. DNA (present in the nucleus of our cells) is extracted from this sample for analysis.
There are different techniques for carrying out genetic studies. Currently, at our centre, we perform gene panel studies. This entails analysing different genes linked with the genetic predisposition to cancer to rule out any abnormality in them; this is also called gene sequencing.
When a genetic abnormality is found in a family, a predictive study is carried out. This kind of study determines if an individual also presents the genetic abnormality detected in the family.
Depending on the genetic change found, different measures for early detection and prevention can be recommended. For example, individuals with a mutated BRCA1/2 gene should begin to undergo an annual breast check-up, with a breast MRI and a mammogram, from the time they are 25–30 years old. Individuals with Lynch syndrome should get annual colonoscopies from the age of 25 onward.
Depending on the type of genetic disorder, risk reduction surgeries can also be an option. For example, in individuals diagnosed with FAP, depending on the number of polyps they have, a prophylactic colectomy (removal of the colon) can be performed to reduce their risk of developing colon cancer.
Follow-up and prevention measures are determined on an individual basis in the corresponding specialist's medical consultation. Additionally, at the medical office in charge of hereditary cancer, a reproductive genetic assessment is offered, depending on the genetic abnormality.
A urinary tract infection is the presence of bacteria in the urinary tract, which is normally sterile. It can affect the lower urinary tract (bladder or urethra) or the kidneys, known as pyelonephritis. Common symptoms include pain during urination, frequent urination, or fever. Treatment usually involves antibiotics.
Infections of the lower urinary tract are characterised by localised pain, which increases when urinating, and sometimes by cloudy or dark urine, usually without high temperatures.
Kidney infections (pyelonephritis) are characterised by high temperatures, acute local pain in the lower back, and pain or irritation when urinating.
Urinary tract infection is characterised by the presence of local pain (lower abdomen or lumbar region), which increases when urinating. The urine is often cloudy, or dark if it contains blood. There may be high fever, especially in the case of pyelonephritis (an infection of the upper urinary tract).
It can affect people at any age, from early childhood to old age. It is more frequent among women and there are factors that make people vulnerable to it (pregnancy for women and enlarged prostate for men) as well as urological anomalies (pre-existing malformation or presence of kidney stones).
Urinary infections are diagnosed by examining urine under the microscope (sediment) to see whether it contains white blood cells and/or bacteria, and by cultivating the bacteria in a microbiological culture to identify the strain and determine the most appropriate antibiotic for treatment (antibiotic susceptibility testing).
Urinary tract infections are usually treated with antibiotics. Treatment is oral in the case of lower-tract infection.
For upper-tract infections (pyelonephritis) it is usually intravenous, although in some cases outpatient oral treatment may be administered.
The standard tests are urine sediment and culture (urine culture with antibiotic susceptibility testing). An ultrasound scan may be indicated for examining the kidney and urinary tract and identifying obstructions or kidney stones that may have brought about the infection.
Ultrasounds are also used to assess the state of the kidneys. A general analysis may also be indicated to see how the urinary tract infection is affecting the rest of the body, and specifically the renal function.
Urinary tract infection can be prevented by frequent urination (every 2 to 3 hours) and, above all, by avoiding the habit of holding in urine, and by going to the toilet whenever the bladder feels full, without waiting too long.
Chronic pelvic pain is a persistent condition lasting more than six months that affects the pelvic area and related structures in both men and women. It has a multifactorial origin and can significantly impact quality of life, sexual health, and emotional well-being.
Chronic pelvic pain is defined as "chronic or persistent pain in the structures related to the pelvis in both men and women". It commonly impacts on cognitive, sexual and emotional behaviour. It often manifests as gynaecological, sexual, intestinal or pelvic floor dysfunction. A multidisciplinary approach must therefore be taken to treatment.
Chronic pelvic pain lasts for six months or more and affects the pelvic area, the abdominal wall of the bellybutton and below, the lumbosacral area of the back and/or buttocks and is of sufficient intensity to cause disability in the patient and/or require medical attention.
This has a clear effect on the quality of life of people suffering from the condition.
Its origin is unknown, but we do know that it is exploited by multiple biological/organic, psychological and environmental conditions, which interact in a non-linear way and predispose the patient to present with the condition. There is a clear trend for patients to attend multiple specialists, with requests for complementary testing, which can become iatrogenic, with the patient often feeling misunderstood and ill-treated by the healthcare system.
As it is more of a clinical condition rather than a diagnosis as such, the symptoms can vary a lot, but they always centre around persistent pain. It has a major impact on women of reproductive age and its impact on quality of life varies depending on the causes. It is worth remembering that it gravely impacts on patients’ sex lives and this can cause very significant psychological issues.
According to research, the prevalence of pelvic pain in epidemiology is vary variable. This almost certainly has to do with sociocultural aspects. According to the latest studies, it could be as much as 6.4-25.4% in women and lower in men, at around 2-17%. It is very likely that in the case of men there is an underestimation of this prevalence as there is less willingness to look at problems that also affect the sexual sphere.
Diagnosis is clinical. An appropriate clinical history needs to be conducted with the patient and/or relatives by a specialised healthcare professional. There are different scales to assess the severity of symptoms or associated comorbid disorders, and neuropsychological tests that evaluate cognitive difficulties in terms of attention and concentration. There are also some useful complementary tests to rule out organic causes and make a good diagnosis.
A multi-modal approach is required: psychoeducation, psychological treatment and pharmacological treatment. If the condition is also affecting the patient’s sexuality, we must consider tackling the issue with the patient’s partner as a priority. Several drugs have been shown to help control the symptoms. It very important for treatment to create a good doctor/patient relationship, avoiding unnecessary and iatrogenic complementary testing.
Clinical history. Psychological interview. Neuropsychological examination. Blood test, vital signs, weight and height. Neuroimaging. Scans.
Work with healthcare professionals from the different specialisms that treat chronic pelvic pain. Schedule regular appointments and manage requests for complementary tests and medical interventions to prevent iatrogenic illness. Do regular physical exercise, try to rest well at night, stay active and take part in employment and/or leisure activities, practise relaxation therapies such as mindfulness and avoid consuming toxic substances. Rehabilitation physiotherapy.
These syndromes are a group of diseases characterised by insufficient blood cell production (anaemia, neutropenia and thrombocytopenia), constitutional malformations and the risk of cancer.
They are usually diagnosed in childhood but there some cases diagnosed in adults. Specifically, these syndromes are: Fanconi anaemia, dyskeratosis congenita or selectively severe congenital neutropenia, Diamond-Blackfan anaemia, Diamond-Shwachman syndrome, and amegakaryocytic thrombocytopenia.
Malformations caused by inherited bone marrow failure syndromes affect the skin, bones, heart and digestive system as well as the urinary system, the central nervous system, and others. They may also affect the area around the bone marrow.
Besides this, they also increase the predisposition to cancers such as acute myeloid leukaemia, myelodysplastic syndrome and squamous carcinoma of the head, neck and reproductive organs.
These syndromes have important biological pathways in common related to cell growth and division such as the activation of the p53 gene that is responsible for halting the cell cycle, cell ageing and cell death. In addition, mutations have been identified in more than 80 genes.
Although this is treated in childhood, once the patient reaches adulthood monitoring is very important. Early diagnosis of these syndromes is essential to ensure the patient receives appropriate treatment. The aim is to minimise toxicity at the same time as allowing genetic counselling, and implementing strategies for cancer prevention and monitoring. This treatment should focus on treating the bone marrow failure, but also any constitutional malformations and extra-haematological manifestations, in addition to cancer treatment.
A multidisciplinary team of specialists with extensive experience of these diseases is necessary to ensure optimum patient care.
The first symptoms are related to a lack of blood cell production:
There are also signs related to malformations such as:
Estimated incidence rates of the different syndromes are:
The usual tests to detect inherited bone marrow failure are:
The following methods are used to treat these pathologies:
To prevent these diseases it is important to avoid smoking, alcohol, sun exposure, and to have a balanced diet. In addition, a cancer prevention programme should be followed with regular visits to the Cancer Prevention Unit and the Ear, Nose and Throat, Maxillofacial and Gynaecology departments.
Laparoscopic myomectomy is a surgical intervention used to remove uterine fibroids (or myomas), which are almost always benign tumours that appear inside the wall of the uterus.
The prevalence of uterine fibroids is high, around 30%. In most cases, they are asymptomatic and no treatment is necessary.
In those patients where fibroids do cause symptoms, these include hypermenorrhea, pain and infertility. Myomectomy is a valid treatment option.
Until recently, a laparotomy was the usual procedure. The indication of laparoscopic myomectomy as an alternative to laparotomy has been assessed in various studies. It requires seasoned surgeons with experience in the technique and expert handling of the endoscopic suture.
Laparoscopic myomectomy offers advantages over the laparotomy, such as: reduced postoperative recovery times, decreased postoperative pain and shorter hospital stays. However, it entails longer surgery and requires adequate preoperative evaluation, since the size, number and location of the fibroids can be a limiting factor when choosing a laparotomic approach.
Since June 2009, at the Vall d'Hebron University Hospital we have the Da Vinci robotic system that has been important in assisting in the suture of fibroids in hard-to-reach places, or when the endometrial cavity is affected and must be repaired. In these cases, the Da Vinci system has meant we have been able to offer greater numbers of closed surgeries on our unit.
This treatment is offered by the Gynaecology Department.
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