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.
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Anaemia is caused by a decrease in red blood cells, also called erythrocytes, resulting in a drop in haemoglobin levels. Red blood cells are primarily concerned with the transport of oxygen to different tissues. Anaemia can be caused by a blood disease, but it can also be a manifestation of other diseases.
Anaemia appears when haemoglobin levels fall from normal age and sex-dependent values, which are indicated to us in the results of tests conducted, although there are small differences between some laboratories and others.
As a consequence, patients do not have enough oxygen-rich blood, which causes them to feel tired, weak and dizzy or to have palpitations and headache, among other symptoms. It is very important to know the causes, but also to administer treatment, since serious or prolonged anaemia can affect the heart, brain and other organs.
Blood has different components, including red blood cells, white blood cells, platelets and plasma. In some types of anaemia, all of these are less abundant.
There are three main causes of anaemia:
If you have signs or symptoms of anaemia, see your doctor. If the disease is diagnosed, treatment depends on the cause and severity. There are many types of anaemia that have specific causes and characteristics:
The most common symptom of anaemia is tiredness and the feeling of exhaustion and weakness. People with anaemia have a hard time finding enough energy to do their usual activities.
Other signs and symptoms of anaemia may come about because the heart has to work harder to pump oxygen-rich blood through the body. These include:
According to WHO reports, anaemia affects 1.62 billion people worldwide, 24.8% of the population, depending largely on the economic situation of countries.
Prevalence is highest among preschool children and lowest among men. The population group with the highest number of affected people, however, is non-pregnant women.
Because anaemia does not always produce symptoms, your doctor may discover it during tests. At a routine appointment or for other reasons, your doctor may ask you if you have any of the signs or symptoms of anaemia, or if you have had a disease or health problem that may cause it.
To determine the severity of the disease and to find out its origin, a small test needs to be done, which should include the following examinations:
Your doctor may also perform a pelvic or rectal exam to detect sources of blood loss.
Blood tests help determine the type of anaemia and how severe it is. Among the tests indicated, a full blood count (haemogram) is the most common.
Sometimes, other tests will need to be done:
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.
Acute myocardial infarction (AMI) is the necrosis of a part of the heart caused by the interruption of blood flow in the coronary arteries. It is a medical emergency with a risk of serious complications and is one of the leading causes of death worldwide. The most common risk factors include atherosclerosis, smoking, hypertension, diabetes, and high cholesterol. Early diagnosis and prompt treatment are essential to minimize heart damage and improve prognosis.
The main factor determining the prognosis and initial course of treatment is whether the obstruction of blood flow to the heart is total and persistent or not. The former case is a medical emergency, since the entire myocardial area irrigated by the obstructed artery will die if the blood flow is not quickly restored. The latter, without total and persistent blockage, constitutes a less severe heart attack and treatment is not as urgent.
The clinical presentation, in which the symptoms and initial signs can be characterised, and, most importantly, the electrocardiogram (ECG) results, help distinguish between these two scenarios. AMI is one of the leading causes of death worldwide, since it goes hand-in-hand with a high risk of serious complications, such as malignant arrhythmias, especially in the first few hours following the heart attack. It is also a common cause of long-term disability. Even with the considerable therapeutic advances of the past few decades, it is still a serious condition.
The most common symptom is chest pain, usually described by patients as a kind of pressure in the middle of their chest, which often radiates to the arms, neck, jaw, or back; it starts off as mild pain and progressively increases in intensity. It is sometimes defined as a burning sensation, and it can occur in other parts of the body, such as the stomach area.
Often, it is accompanied by a subjective feeling of weightiness, cold sweats, nausea, and vomiting. Sometimes, especially in the elderly, in women, and in diabetic patients or those with other chronic diseases, the pain is not as obvious or it is accompanied by other symptoms such as shortness of breath, fatigue, or feeling unsteady.
AMI can occur suddenly, as the first sign of ischaemic heart disease, but often, patients have had prior, brief episodes of chest pain, usually upon physical exertion, which should serve as a warning that they may have an unstable coronary injury. Other associated symptoms, such as trouble breathing, fainting, confusion, drowsiness, or extreme weakness usually indicate the presence of serious complications of AMI such as heart failure, arrhythmia, or cardiogenic shock.
Many people, since ischaemic heart disease is the leading cause of death worldwide. According to the WHO, in 2016, it caused close to 10% of deaths overall, surpassing strokes and chronic obstructive pulmonary disease. In Europe, the mortality rates due to ischaemic heart disease and cancer are quite similar. The prevalence of AMI and ischaemic heart disease in general is less in the Mediterranean countries than in the Northern or Eastern European countries.
In Spain, there are some 100,000 cases of AMI per year, a third of which prove to be fatal before the patient reaches the hospital. The prognosis for hospitalised patients has improved greatly in the past few decades; the current hospital mortality rate here is close to 5%.
The prevalence of AMI increases at advanced ages. Although it is commonly believed that AMI is a condition that affects mostly men, its prevalence is similar in both sexes. What happens is that men usually develop this condition starting in their forties, whereas women see an increased incidence of the disease 10-20 years later, almost always after menopause. However, young women can also have an AMI.
Anyone can suffer an AMI, but there are risk factors that are closely associated with a higher risk. The most characteristic of these are those related to any kind of atherosclerosis, such as tobacco use, diabetes, hypertension, and high cholesterol. There are also genetic traits associated with an increased predisposition to the illness.
Lastly, there are factors that can provoke a rupture in the atherosclerotic plaque or a thrombotic response and trigger an AMI, such as:
It is of the utmost importance to identify those patients with complete coronary artery blockage, and who therefore require urgent reperfusion treatment (which restores the blood flow to the blocked arteries), as soon as possible. Every minute counts when it comes to saving myocardial tissue.
In most cases, this identification can be done by assessing the symptoms and analysing the ECG. Therefore, patients with chest pain or other symptoms consistent with an AMI should immediately seek medical attention, and medical staff should perform a clinical evaluation and ECG analysis without delay.
The safest and most effective way to do this is to call 112, as the Spanish Medical Emergency System usually evaluates these patients faster than most accident and emergency departments at health centres and hospitals. In addition, when an AMI requiring immediate catheterisation is detected, the treatment process is initiated at the site where the patient first receives medical attention and they are transferred to a hospital that is equipped for the procedure they need. Moreover, the patient is received directly at the cardiac catheter laboratory, where a team will have already been alerted and will be waiting for them, without losing time having to first go through the emergency department.
In Patients with an ECG that is normal or whose ECG shows ischaemic changes but in whom a complete coronary artery blockage is not suspected, do not require immediate catheterisation and can be evaluated with less urgency at an accident and emergency department. An AMI diagnosis is confirmed by the presence of elevated myocardial necrosis markers in the blood analysis.
From the moment they are diagnosed, AMI patients' heart rate must be continuously monitored to detect and treat serious ventricular arrhythmias, in case they occur. They should be admitted to a cardiovascular intensive care unit or intermediate care unit, depending on their initial risk assessment, and once they are stabilised, they can be transferred to the general ward. The average length of hospital stay due to a non-complicated AMI is 4 to 5 days.
AMI patients require antiplatelet drugs to combat thrombosis and a coronarography is also recommended in all cases. When an acute coronary occlusion is suspected, the coronarography must be performed quickly so than an angioplasty can be carried out to re-open the obstructed artery as soon as possible. Often, a coronary stent, a device that reduces the risk of reobstruction, is simultaneously implanted. If an urgent coronarography cannot be done, for example because the patient is located in an area very far away from a hospital equipped for this procedure, pharmaceuticals can be administered to dissolve the coronary thrombus.
In all other AMI cases, the coronarography and revascularisation are carried out within the first few days of admission. Some patients may require coronary bypass surgery instead of percutaneous revascularisation and stenting, due to the characteristics of their cardiovascular injuries. Apart from this, all patients will receive pharmaceuticals to reduce their cholesterol, and those with severe heart attacks will require specific medications to improve their ventricular dysfunction and prognosis. Participating in cardiovascular rehabilitation programmes after discharge has been shown to improve the prognosis and fosters patient adherence to healthy lifestyle guidelines.
Some patients who experience complications may require implantable electronic devices such as pacemakers or defibrillators, and more severe cases may warrant aggressive interventions such as:
The risk of suffering an AMI can be reduced with preventative health measures, including controlling one's diet. Regular physical exercise and avoiding being overweight are very beneficial to this end. One's diet should be balanced, and following a Mediterranean diet rich in virgin olive oil, vegetables, fruits, legumes, and fish, supplemented with nuts and with a limited intake of red meat and sugar, is the healthiest option. Tobacco consumption should be completely eliminated, and it is wise to avoid heavy exposure to pollution, as well as strenuous activity and high-stress situations.
For patients with cardiovascular risk factors, medications to control cholesterol, hypertension, and diabetes are often recommended, and in very high-risk patients, prophylactic therapy with antiplatelet drugs may be warranted.
It is estimated that more than 5% of the population suffers from chronic diarrhoea, a condition which lasts for four or more weeks, and that close to 40% of sufferers are over the age of 60. Normal stool frequencies vary from three times a week to three times a day.
Diarrhoea may be defined as reduced consistency and increased fluidity of stools, bowel movements causing abdominal cramps or discomfort or increased stool frequencies. Consistency of stools is determined according to the Bristol stool scale, a specially designed visual chart that classes stools under 7 categories, according to form and weight.
An evaluation has to be made of the presence:
The list of possible causes for chronic diarrhoea is extensive and numerous tests often need to be carried out before a final diagnosis can be made.
The most frequent causes of chronic diarrhoea in our environment are bile acid malabsorption and functional disorders, above all irritable bowel syndrome and intolerance to carbohydrates such as lactose.
It is useful, from a clinical-practice perspective, to class patients with diarrhoea according to whether they present characteristics that suggest “functionality” – a diarrhoea that appears without an organic cause justifying it – or “organicity". This distinction is important, as the two situations’ diagnostic approach and treatment obviously differ.
Where an organic disease is suspected, preferential action often has to be taken, in contrast to a suspected functional disorder, which may defer the diagnostic procedure somewhat.
Symptoms and alarm signs where potentially serious organic diseases causing chronic diarrhoea need to be ruled out first are:
There are currently no specific recommendations for preventing the appearance of this disease. We recommend:
An allergy is an immune-system disorder characterised by an exaggerated response to external elements, known as allergens, that are harmless to most individuals. These can be pollen, mould, animal hairs, foods, wasp or bee stings, and medications. This disorder may manifest in isolation in the respiratory (hay fever, asthma), abdominal or cutaneous systems, or, in severe cases, in multiple organs and systems.
They may appear in isolation in respiratory, abdominal or cutaneous systems, depending on the route of exposure to the allergens (respiratory, ingestion, etc.,) and cause various illnesses such as asthma. In severe cases, reactions may lead to combined symptoms in several organs and systems and cause a life-threatening condition called anaphylaxis.
Depending on the area affected, there may be:
In the event of asystemic reaction (anaphylaxis)the symptoms mentioned above have the tendency to appear all together within the first hour of exposure to the allergen, and these may also be accompanied by a feeling of dizziness and fainting that require urgent medical attention and medication.
The WHO classes allergic disease as one of the six most common afflictions in the world. It is estimated to affect up to 20% of the world’s population, with developed and industrialised countries affected the most.
Here in Spain, it is estimated that one in four people may suffer some kind of allergic disorder in their lifetime. Nevertheless, there are notable differences in the frequency of presentation of the various allergic diseases in our country's geographic regions.Bronchial asthma, for example, is more common in the coastal and island areas than in the centre of the peninsula, with a prevalence that ranges between 1% and 5% of the general population. By comparison, the European average is 6%.
There are no definitive data available on the frequency of the various allergic diseases, given the disparities between the results of the various studies conducted. However, we do have reliable data on the reasons for the consultations made by Spanish patients with allergists: hay fever (allergic rhinitis), asthma and allergies to medications occupy the top three spots, with a frequency of 54%, 23%, and 17%, respectively.
Hay feveris the most common affliction, affecting up to 21% of the general population in Spain, even though there are, as with asthma, notable differences between geographic areas.Atopic dermatitisis the next most frequent, affecting 4% of school-aged children. Lastly,food allergiesaffect 3-5% of the paediatric population, but less than 2% of adults.
The second half of the 20th century saw a spectacular rise in allergy numbers , multiplying fivefold in developed countries. It seems, however, that the trend over the last decade has reached a plateau, and a slight decrease has even been observed.
Allergy tests are used to identify the substances a patient is sensitised to. This study is based on the use ofskin tests, laboratory tests to study the presence of antibodies against the suspected allergens and controlled exposure to these allergens.
In the case of allergic respiratory diseases, such as hay fever or asthma, a precise measurement can be made of a patient is affected through safe, painless techniques such asspirometry, theexhaled nitric oxide test andacoustic rhinometry. There are other diagnostic tests of uncertain or untested value whose results should be interpreted with caution and with our current scientific knowledge taken into account. In any case, the allergist should always be the professional who prescribes and evaluates all these tests.
The treatments available for allergic disorders vary depending on their characteristics, the severity of the allergies and whether they focus on alleviating symptoms or curing the condition:
There are currently no specific recommendations for preventing the appearance of this disease. In the specific case of food allergies, it has been observed that the early introduction of foods that are traditionally considered “allergens”, from 4-6 months of age onwards (keeping in mind the psychomotor and digestive development of babies), can reduce their risk of developing allergies.
Human immunodeficiency virus (HIV) is a retrovirus, made up of two copies of single-chain RNA enclosed within a capsid.
It is transmitted by blood and genital secretions (unprotected sex) and from mother to foetus during pregnancy or birth or through breast-feeding (where the mother does not have her infection controlled).
HIV infects a particular type of the body’s defences, CD4+ lymphocytes. It reduces the number of its host's lymphocytes, thereby increasing the latter’s risk of suffering certain infections from micro-organisms (bacteria, viruses, fungi and parasites) that normally do not cause problems when the immune system is working correctly; these are known as opportunistic infections. In addition, the virus infects the body’s other cells and remains in a latent state in areas such as lymphatic ganglia and intestinal mucus. This latent virus is known as a viral reservoir and is one of the main obstacles to curing this infection.
HIV is NOT transmitted through other channels, such as objects, insects or physical contact without sharing blood or secretions. HIV can be prevented by using condoms during sex and by not sharing any materials that may contain infected blood.
Acquired immunodeficiency syndrome (AIDS) is diagnosed where the number of CD4+ lymphocytes drop below 200/μl or one of the syndrome's defining diseases (infections or neoplasia) appears. It is for this reason, and for the sake of preventing new infections, that early diagnosis of the infection is very important. Anyone who has been in a risk situation should be tested for HIV (and other STDs), irrespective of the presence or absence of symptoms. Having any other STD raises the risk of acquiring and transmitting HIV.
Acute infection with HIV can manifest itself non-specifically, like any other viral infection such as the flu (fever, general malaise, skin rash, swollen lymph glands, pain in the joints or in swallowing, fatigue etc.,) or may be completely asymptomatic.
Once the infection has become chronic, a variable period of time passes during which patients may be completely without symptoms but can transmit their infection. As the (CD4+) defences drop, clinical symptoms may appear with the associated pathologies, whether infections or neoplasias, which can affect several organs/systems.
Anyone who is sexually active runs the risk of being infected by HIV if they do not know the state of health of the person they are having sexual relations with and do not take the following precautions: use of condoms or pre-exposure prophylaxis (PrEP: taking a combination of two anti-retroviral medicines without being infected with HIV, to prevent such infection in the event of coming into contact with the virus). Fortunately, the risk of transmission through other channels, such as blood or mother to foetus, has dropped significantly in our environment, thanks to harm-reduction and HIV-screening programmes for pregnant women and blood and organ donors, among other measures.
HIV is diagnosed in the laboratory by detecting antibodies the patient creates against the virus (but which are not used for neutralising the virus and curing the infection and which remain positive for life as a marker of the infection) and the direct detection of parts of HIV, whether the virus’ antigens or by determining the number if HIV particles that are circulating through the bloody (viral load). Note that there is a period of time between the virus’ entry into the body and the detection of these antigens/antibodies during which all tests are negative, known as the window period. Today’s new techniques have reduced this period to 2-3 weeks after infection.
The recommendation these days is for all patients infected with HIV to start anti-retroviral treatment irrespective of the number of CD4+ lymphocytes or viral load. The only exception would be elite controllers, that is, people whose viral load remains undetectable without treatment. For all other infected individuals, treatment is started with patients as soon as they are ready to receive it and have the necessary information for choosing the best option possible in each case. An effective treatment makes the viral load undetectable, although it does not eliminate HIV from the body. The immune system can therefore remain intact/recover, reducing the possibility of new infections. In fact, when the virus is undetectable in the blood thanks to this anti-retroviral treatment, the infection is not transmitted to other people (undetectable=untransmittable).
There are various families of medicines that act at several points in the HIV life cycle, halting its replication within the body. So we now have analogue and non-analogue nucleoside reverse transcriptase inhibitors, integrase inhibitors, protease inhibitors and entry inhibitors.
Anti-retroviral treatment is currently administered in pills or in the form of long-acting injectable medicines. Standard treatment involves a combination of 2 or 3 different medicines, which can often be combined in two pills or a single tablet. Today's anti-retroviral treatment is for life, given that, if patients stop their treatment, their latent HIV reservoir will re-activate and replicate. Depending on the drugs patients are taking, the possibility of interactions with any other medications they may receive needs to be monitored and a follow-up analysis or specific explorations may be necessary for certain drugs.
Today, HIV infection has become a chronic illness and, with the current treatment, people diagnosed with it now have a life expectancy similar to that of the general population. If someone infected with HIV performs their controls correctly and takes their anti-retroviral medication they can lead a completely normal life, and that includes having children without transmitting their infection to them. Routine visits are made to monitor the infection, usually every 3 to 6 months, during which the number of defence cells (CD4+ lymphocytes) and viral load are measured.
That analysis also measures other parameters to monitor any other pathologies which patients may have (blood count, renal function, liver function, lipids). In addition, a series of specific complementary explorations may also be performed, such as early detection of STDs, screening certain neoplasias (cervix, anus), osseous pathology and so on. People living with HIV can also be given advice on certain preventive measures, such as taking vaccinations against influenza and invasive pneumococcal disease.
The inflammation that the virus’ replication in the body causes also increases the risk of suffering diseases we find in the general population, such as cardiovascular, liver, renal and neurological pathologies and certain cancers, which may appear more severely or at younger ages. That is why it is very important for people living with HIV to control conventional risk factors and adopt healthy life habits.
As an STD, HIV infection can be better treated through early detection and prevented through the use of barrier methods during sex, basically male or female condoms. As mentioned above, the last few years have seen studies on the use of PrEPs as a prevention strategy. This strategy has proven to be highly effective in preventing HIV infection, although it has the disadvantage, unlike using condoms, that it does not protect users from other kinds of STDs.
A person who has been exposed to HIV can also undergo post-exposure prophylaxis (PEP), which involves being administered 3 anti-retroviral drugs for 28 days, although this will have to start within the first 72 hours after exposure to the virus.
Chronic hepatitis usually takes a silent course and causes inflammation of the liver without presenting any serious symptoms. Whatever the cause of the hepatitis, serious inflammation may overwhelm the capacity of a patient's liver to regenerate. When that happens, scars may appear (known as fibrosis). Where a patient has numerous scars on their liver, this is known as hepatic cirrhosis.
Chronic hepatitis is an inflammation of the liver that lasts longer than six months. Not all cases of hepatic cirrhosis are caused by alcohol abuse.
Frequent causes of chronic hepatitis are:
Two thirds of patients show no symptoms of the illness by the time they have developed hepatic cirrhosis. It is at this stage they may present cirrhosis-derived symptoms such as:
Hepatitis B and C viruses are most often transmitted sexually or through intravenous injections among drug addicts. They may also be transmitted from mother to child during birth. Infection through blood transfusion is very controlled these days and practically never occurs
Toxic hepatitis is caused by exposure to toxins, some well known, others by an unexpected reaction to medicines that have no adverse effect on most of the population (idiosyncrasy). Alcohol abuse is the most common toxin.
Hepatic steatosis is directly linked to obesity among the general population.
Diagnosis is based on three sets of features.
1. Family, personal and case histories
Patients suffering from chronic hepatitis usually present histories that help with the diagnosis, such as alcohol abuse or intravenous drug injections, use of certain medicines, being a child of a mother with HCV or HBV, or obesity. As for people with autoimmune hepatitis, they or their direct family members may present other autoimmune illnesses (such as diabetes, ulcerative colitis, lupus, vitiligo.)
2. Physical examination
Patients may show characteristic signs of portal hypertension (ascites, spider angiomas, reddening of the palms of the hands, collateral circulation in the abdomen). In the case of non-alcoholic steatohepatitis, patients are overweight/obese.
3. Complementary examinations:
- General analysis: Analytical tests can be taken to reveal inflammation of the liver (transaminases) and loss of its synthetic (coagulation and albumin tests) and purification (increased ammonium) functions. At the same time, a systemic detection can be made of the cause of the inflammation (viral serologies in cases of suspected virus illness, autoantibodies and immunoglobulins for autoimmune hepatitis, copper in urine and caeruloplasmin for Wilson’s disease, etc.)
- Imaging tests (abdominal ultrasound and CT scan) show the presence of a heterogeneous liver with probable fibrosis. Nodular margins and indirect signs of portal hypertension (collateral circulation, splenomegaly, etc.) can be seen with patients presenting hepatic cirrhosis.
- Elastography may reveal the presence of hepatic fibrosis and determine its severity.
- Hepatic biopsy: may be used for helping with a differential diagnosis (accumulation of copper in Wilson's disease, interface hepatitis in autoimmune hepatitis, macrovesicular steatosis in non-alcoholic steatohepatitis, etc.) It will also reveal the extent of the hepatic fibrosis/cirrhosis.
Treatment will depend on the cause of the chronic hepatitis.
- Viral hepatitis; hepatitis B and C viruses require specific antiviral treatment. In the case of hepatitis C, new direct-acting antivirals have radically changed the prognosis for patients, so that it is now a disease which is curable with few side effects.
- Hepatic steatosis requires a change of patient lifestyle (balanced diet and exercise). Several pharmacological treatments are currently being studied which could help to lessen the build-up of fat in the liver.
- Autoimmune hepatitis; this has a specific treatment where the defence system is modulated with corticoids and Azathioprine.
- Wilson's disease; this is an illness that causes copper to build up in the liver and other organs. Treatments are aimed at increasing the elimination of copper through urine (D-penicillamine) or at reducing its absorption (zinc salts)
Mainly analytical tests for diagnosing the cause of the inflammation of the liver and evaluating its dysfunction, and elastography to assess the extent of fibrosis.
Foetal alcohol syndrome disorder (FASD) is characterised by cognitive, behavioural and physical problems caused by exposure to alcohol during pregnancy.
FASD may result in physical symptoms (such as facial abnormalities), growth retardation, damage to the nervous system and cognitive and/or behavioural problems. 90% of people with FASD suffer from psychological disorders, attention deficit hyperactivity disorder (ADHD) being the most common.
The main symptoms of FASD are poor memory and attention span, learning difficulties, problems with recognising cause and effect and lack of social skills and emotional self-regulation. These issues may lead to secondary complications such as poor academic performance, legal issues, inappropriate sexual behaviour, substance abuse and problems finding employment as an adult.
Babies exposed to alcohol in the womb.
FASD diagnosis requires not just physical examination but also neurocognitive and behavioural assessment.
Treatment for FASD is multidisciplinary and often requires a combination of psychology and pharmacology. The psychological approaches shown to be most effective are based on training in social skills, emotional self-regulation and guidelines for parents on how to manage the conflicts involved in having a child with FASD. Appropriate interventions for FASD also involve relevant adjustments to the child’s education.
Psychological monitoring should include both the patient and their parents or guardians. The psychological treatments available include: group treatment (for teenagers and parents), one-to-one psychological treatment and assisted therapy with dogs.
Interventions are based on the age of the child/teenager and their cognitive difficulties. Before any psychological intervention, a neuropsychological assessment must be performed to indicate which cognitive functions the patient has most difficulty with. Treatment can then be adapted to their abilities and carers can manage their expectations and adapt the child/teenager’s environment according to their behaviour.
Clinical history. Psychological interview. Neuropsychological examination. Physical examination and in some cases MRI and EEG tests.
The best way to prevent FASD is to avoid drinking alcohol during pregnancy. Patients with this syndrome have the best prognosis when diagnosed early (before 6 years old) and within a stable family environment.
Poliomyelitis is a highly contagious disease caused by any of the three human poliovirus serotypes, which are part of the enterovirus family. Europe was certified free of poliomyelitis in June 2002. Immunisation and vigilance of the disease continue to ensure the region is free of poliomyelitis. Post-polio syndrome has no defined causal mechanism but it affects between 20% and 80% of patients afflicted with poliomyelitis.
Initial symptoms are those of a influenza-like illness (fever, headache, joint and muscle pain, vomiting, among other things) and can last up to 10 days. Its most serious forms may cause respiratory paralysis leading to death. Post-polio syndrome presents a new neurological weakness that may be progressive or abrupt on muscles previously affected or unaffected. It may or may not be accompanied by new health problems such as excessive fatigue, muscle pain, pain in the joints, intolerance to cold, reduced physical stamina and function, and atrophy.
It mainly affects children and the mechanisms for its transmission may be through faecal-oral channels or a common vehicle (contaminated water or food).
Post-polio syndrome affects patients who have had poliomyelitis for 20 years or more.
Diagnosis is given clinically, supplemented with laboratory and electromyographic (EMG) tests.
Symptomatic treatment with analgaesics, a ventilator where necessary, gentle exercise and possibility of orthopaedic devices to prevent deformities or to enable function.
In acute diagnoses, studying secretions, stools and cerebrospinal fluid. EMG in acute and later stages for diagnosing post-polio syndrome.
Poliomyelitis has no cure but it can be prevent by vaccination.
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.
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