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Diagnostic laboratory tests for allergies (blood analyses) are intended to complement the results of the skin tests by quantifying the antibodies present in the patient's serum against the various possible allergens.
Determining the presence of specific antibodies against possible allergens has repercussions on the decisions allergists take in prescribing treatments such as allergy shots. It also helps to confirm or rule out diagnoses when the patient's symptoms are consistent.
Through a traditional blood sample, taken by healthcare professionals, which is then sent to the Immunology Department, processed and determined.
There is no need for patients to fast or refrain from taking allergy medications such as antihistamines before their blood samples are taken.
Dizziness or bruising after the blood has been taken.
It is essential for patients to actively participate in the monitoring and treatment of their disease to increase their personal satisfaction and autonomy. Having reliable, verifiable information is also of great help in managing the disease.
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®):
a) If you have been taught how, self-administer it in accordance with the instructions.
b) If you cannot administer it yourself, take it with you to the health centre.
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.
TRANSFUSIONS – 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 TRIPS
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.
Peer education consists of knowledge exchanges between people in the same group about the disease and the skills needed to maintain and improve health. As this is achieved by individuals, groups and communities, it empowers patients against the disease, involving them as active elements, and generating a group feeling. This facilitates common strategies in the process of raising awareness, removing stigmas and raising the profile of Chagas disease.
Chagas disease is an infectious, usually chronic, tropical disease caused by the parasite Trypanosoma cruzi. People can become infected through the faeces of an infected insect, a triatomine, also known as conenose bugs, kissing bugs, assassin bugs or vampire bugs, depending on the country.
It can also be transmitted in other ways:
Transmission caused by the insect only takes places in Central and South America, but the other ways, due to the migratory movements of infected people, may occur in other corners of the planet. The illness can be prevented.
Although Chagas disease affects between eight and ten million people around the world, today it is not very well known. According to the World Health Organization, it is one of 17 forgotten and neglected diseases.
In somewhere like Spain this illness has different health education needs than in countries where it is endemic. Familiarity, awareness, removing stigmas and visibility of the illness are therefore essential instruments in health education about Chagas disease.
It is calculated that currently less than 10% of infected people know that they have the disease.
Who can be infected?
How do you know if you are infected?
What do you need to do?
Chagas disease is characterised, first of all, by an acute phase during which treatment is effective and it can be cured. In most cases, however, it evolves to become a chronic disease and, as such, requires control and monitoring for life.
More than half of infected people show no symptoms, but three out of ten will suffer heart problems and one in every ten digestive problems (years after having contracted the infection). In these cases, the process is initially asymptomatic, so that without sufficient treatment or monitoring the illness could manifest itself suddenly and cause irreversible damage or even sudden death.
What effects does the disease have?
What are the warning signs?
Chagas disease is often accompanied by emotions and feelings of guilt, impotence and fear. Questions such as: “Why me?”, “What do I do now?” and “Does Chagas mean I’m going to die?” are common in people who have been diagnosed.
What do you need to know?
There are no drugs (vaccinations or medicine) to prevent Chagas disease. People without the disease are at risk of becoming infected and people who are already affected are at risk of being re-infected.
The preventive measure we have is education.
Chagas disease has psychological, social and cultural characteristics and determinants for the people affected, their families and society. In fact, a diagnosis of Chagas disease can have significant repercussions from a psychological and social point of view.
Often, the people affected do not want to know if they are affected or not for fear of the disease and its imagined consequences: often these are based on popular beliefs and/or previous experience with relatives, friends or acquaintances who have died in an unfavourable social environment. Sometimes, they hide the disease for fear of being excluded at work.
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:
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 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.
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.
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.
Infectious Diseases, Pharmacy, Preventive Medicine, Gynaecology/Obstetrics, Internal Medicine, General Laboratory, Microbiology, Immunology, Neurology, Pneumology, Rheumatology, Hepatology, Oncology, Haematology.
Scleroderma is an autoimmune disorder characterised by increased collagen in various body tissues, structural alteration of microcirculation and certain immune abnormalities. The term scleroderma comes from the Greek “skleros”, which means hard, and “derma”, which means skin. This indicates that skin hardening is the most characteristic feature of the condition. As well as the skin, it can also affect the digestive tract, lungs, kidneys and heart. The prognosis varies. There is currently no cure, but the condition can be treated with general measures and treatment of symptoms, depending on the organs affected.
Raynaud syndrome: one of the most characteristic manifestations of the condition (97% of cases), it is the first clinical expression in most patients. It is caused by vasoconstriction of the capillaries. Patients report that with the cold their fingers change colour and turn pale (like wax) first, then turn blue after a while and finally turn reddish. The presence of Raynaud syndrome is not always an indication of scleroderma. In reality, only 5% of people with Raynaud syndrome later develop the condition. Almost half of sufferers may have digital ulcers, as an expression of a severe microcirculatory injury.
The most peculiar manifestation of the disease is the way it affects the skin. It is hard, tight and wrinkle-free (hard to pinch). The extent of the skin condition varies and is related to the prognosis. Two clinical forms are distinguished: limited (distal skin condition to elbows and knees) and diffuse (distal and proximal skin condition to elbows and knees, and torso). The face can be affected equally in both clinical forms. The limited subtype has a better prognosis than the diffuse one. Reduced aperture of the mouth (microstomy) may also be seen. In the skin there are hyperpigmented and coloured areas, telangiectasia (accumulation of small blood vessels) and sometimes subcutaneous calcium deposits can be felt (calcinosis).
Most patients experience joint and muscle pain, and in extreme cases contraction and retraction of the fingers are observed. When the digestive tract is affected, which often happens, the patient complains of a burning sensation and difficulty swallowing, as the oesophagus has lost its ability to move food towards the stomach. Pulmonary disease is the leading cause of death and may occur in the form of fibrosis or pulmonary hypertension; coughing, choking and heart failure are the main manifestations of lung involvement. When the heart is affected, heart rhythm disturbances and in some cases symptoms of angina pectoris are detected, due to the involvement of the small coronary vessels. In a small percentage (about 5%) scleroderma alters the kidney (scleroderma renal crisis) and manifests itself as malignant arterial hypertension and kidney failure.
It should be noted that not all patients with scleroderma present all the manifestations described above. It can also be concluded that there is great, almost individual, variability in the clinical expression of the disease.
Scleroderma is a rare disease with an incidence of 4-18.7/million/year and a prevalence of 31-286/million. It is more common in females, with a variable ratio, depending on the series, ranging from 3:1 to 14:1 (female/male). The age at which it presents is around 30-40 years.
When the above symptomatology is clear, the diagnosis does not offer too much room for doubt. Various complementary tests are helpful in confirming diagnosis and in assessing the degree of involvement of the various organs that may be affected.
“An incurable, but not untreatable condition”. There is currently no treatment for scleroderma that has satisfactory results, but this does not mean that it cannot be treated. Treatment is symptomatic, depending on the organ affected. For Raynaud syndrome: vasodilators, antiplatelets; gastro-oesophageal reflux: proton pump inhibitors; renal crisis: angiotensin converting enzyme inhibitors/dialysis; pulmonary fibrosis: immunosuppressants/lung transplant; pulmonary hypertension: vasodilators/lung transplant. In patients with the diffuse form and less than three years of evolution, immune modulators such as mycophenolate sodium (or mycophenolate mofetil) or methotrexate may be indicated as a basic treatment.
The most common tests to confirm and/or assess the degree of involvement of the various organs are: general analyses and immunological data (specific antinuclear antibodies); capillaroscopy, high-resolution computerised axial tomography scan of the chest, respiratory functional tests, oesophageal manometry and echocardiogram. In the follow-up for these patients, respiratory functional tests and an echocardiogram should be performed annually.
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