What is Epidermolysis bullosa?

Depending on the area of skin where blistering occurs, the disease can be divided into four main groups, and subsequently 32 subgroups.

• EB simplex: blisters appear between the skin layers. Generally, it has a good prognosis and heals without scarring.
• Junctional EB: blisters form inside the basement membrane, resulting in very diverse prognosis. In this case, the disease tends to need skin treatments as well as multidisciplinary treatments.
• Dystrophic EB: blisters are subepidermal. They are the most dangerous and with highest rate of morbidity because when they heal blisters cause scarring and retraction.
• Mixed EB.

Symptoms

The most common cutaneous symptoms are blisters in the areas of greatest friction such as on the hands and feet. They are skin lesions that bleed and may form scabs that are easily infected and that itch constantly. Scratching contributes to new lesions and secondary infections of already affected areas.

Once blisters have healed, millium cysts appear, atrophic or hypertrophic scars that produce webbed hands and feet, joint contractures, as well as aesthetic and functionally limiting deformities in the hands or  that affect walking. All this leads to loss of independence.

In addition, the chronic wounds may produce highly aggressive skin carcinoma.

Aside from this, extracutaneous manifestations may result, such as involvement of the skin annexes, teeth and the gastrointestinal systems, the urinary tract and the respiratory epithelium.

Who is affected by epidermolysis bullosa?

The disease has a low prevalence rate and affects one in every 17,000 live births worldwide.

Diagnosis

The main method of diagnosis is mapping using immunofluorescence and electron microscopy techniques. In addition, genetic diagnosis is mandatory for these patients as the disease may have different evolutions and prognoses.

Typical treatment

Although it is being researched, at the moment there is no cure for this disease, but preventative and symptomatic treatment of skin lesions can be carried out, as well as treatment for systemic complications. When the disease appears it is vital to act quickly as patients’ life expectancy and quality of life depends on it.

Currently, new cellular and molecular therapies are being researched to combat the disease.

This is a frequently transmitted disease and in most cases it does not result in any pathology. It can, however, release a benign disease in the form of warts, or less commonly, different types of cancer. In women, HPV can cause cervical cancer.

What is HPV?

HPV is spread via direct skin to skin contact during sex, and not through fluids. In around 90% of cases it disappears spontaneously, but it can be transmitted whilst the virus is present.

HPV is classified in terms of whether or not there is a risk of cancer developing:

• Low risk: may cause benign genital warts or condyloma.
• High risk: up to 14 different types of high risk or congenital HPV have been described, of which the most common are types 16 and 18. These are responsible for 70% of cancers caused by this virus.

It should be said that it is possible to be infected with more than one type of HPV. In addition, persistent infection can result in developing cancer of the cervix, vulva, penis, anus or oropharynx.

Specifically, the virus initiates dysplastic changes in the epithelial cells which continue to evolve until they produce an invasive cancer. This is a progressive process and the time from infection until developing the disease can be up to twenty years.

Symptoms

Genital warts or small protuberances or groups of different sizes and shapes may appear in the area of the genitals.

In the case of cancer, there are no symptoms until it is very advanced. In the case of cervical cancer, symptoms show up as:

• Abnormal vaginal bleeding
• Pain in the lower abdomen, pelvis, back and legs
• Weight loss
• Pain during sexual intercourse

Who is affected by HPV?

In Catalonia, cancer of the womb occurs in 7.2 out of every 100,000 women per year (2003-2007). This represents 2.8% of all female cancers. Between the ages of 35-64 this figure rises to 16.1 cases for every 100,000 women. Furthermore, the risk of developing this disease for women who live to 75 is one in 106. 

Anal cancer has an annual incidence rate of 1.8 cases for every 100,000 people, but in the case of men engaging in same-sex relations and infected with HIV, this rises to 70 or 128 cases for every 100,000.

Diagnosis

When there is evidence of warts, diagnosis is usually clinical or by biopsy. Cancer is detected by cytology tests, which allow anomalous changes in the cells to be seen before they develop. If the test comes back anomalous it can be complemented by a colposcopy that allows magnified examination of the cervix and samples to be taken.

HPV detection is the main component of a preventative strategy to detect the virus before it reaches the point of disease.

Typical treatment

There is no specific antiviral treatment for HPV.

In the case of warts, in most cases they can be eliminated through surgery, ointments or other treatments.

If cancer does develop, treatment will depend on the stage at which it is diagnosed. For example, if it is detected early in the cervix this can involve removing the damaged tissue, whilst in more advanced stages it may require a hysterectomy, radiotherapy or chemotherapy.

Prevention

The use of condoms is essential to prevent HPV. There is also highly effective vaccine used as a way to prevent cervical cancer. Regular cervical smear tests (Papanicolau test) are also carried out as a form of screening. This strategy, however, is changing due to the techniques used to detect the virus which, together with the smear test, are enabling the different stages of the disease to be monitored (acquisition, persistence, progression to precancerous lesions and invasion).

Patients with an atrioventricular septal defect have a hole in the wall between the left and right sides of the heart and a malformation of the mitral valve, which is the valve that regulates blood flow from the left side of the heart.

In the case of a partial atrioventricular septal defect, the upper part (atrial) or lower part (ventricular) part of the partition may be affected. In the case of a complete atrioventricular septal defect, the hole affects both the atrial and the ventricular chambers of the partition. 

Symptoms

This heart condition may or may not present symptoms, depending on the size of the interatrial hole and the insufficiency of the mitral valve.

Where there are symptoms, the most common are those related to heart failure:

• Tiredness
• Breathlessness
• Difficulty gaining weight
• Heart murmur

Diagnosis

This is carried out through an echocardiogram to identify the presence of a defect and the degree of mitral insufficiency.

Typical treatment

This heart disorder is corrected through surgery, during which a patch is used to close the atrial septal defect and the mitral valve is repaired by closing the hole. The ideal age to repair a partial AV defect is from 1 to 4 years old.

The vast majority of patients with a repaired defect of this type have a similar life expectancy and quality of life to the general population. If it is not corrected, patients may develop pulmonary hypertension, a disease with drastically reduced survival rates from around thirty or forty years old.

Symptoms

The onset of pain is usually gradual, but it can sometimes be sudden if there is an increase in physical or sporting activity, weight gain or pregnancy.

Who is affected by acetabular hip dysplasia?

Despite routine clinical examination and ultrasound on new-borns for detection and early treatment of developmental hip dysplasia, this disorder is still the most common cause of acetabular dysplasia in teenagers and young adults, and the reason behind over 50% of degenerative hip osteoarthritis requiring surgery to fit a full or partial prosthesis, or other techniques to preserve the hip.

Most cases are caused by developmental hip dysplasia, but in others, abnormal development  and growth of the acetabulum is due to a deformity on the head of the femur. Excessive pressure on the joint means the cartilage deteriorates more quickly than normal.

The incidence rate in adults is very variable.  The incidence of developmental hip dysplasia is 1 or 2% in new-borns and 60% of hip osteoarthritis originates in acetabular dysplasia.    

Diagnosis

Physical examination may be normal or cause pain in the groin when the hip is flexed with internal rotation and hip adduction. This “impingement test” shows an interjoint anomaly.

An AP standing x-ray and false profile and axial view of the hip are useful to diagnose and assess the severity of the condition. The high-resolution MRI in our centre allows us to see the structures and quality of the cartilage in the joint. If there is still any doubt, an arthroscopy can be performed.

Prevention

Early diagnosis of developmental hip dysplasia through routine physical examination (Barlow and Ortolani tests) during the prenatal period and an ultrasound of the hip enable early treatment and prevention of residual acetabular dysplasia.

What are neuroblastoma?

It is not currently known what causes them, but they are understood to often be hereditary. Approximately two thirds of neuroblastoma occur in the adrenal glands (found above the kidneys) or near the spinal cord in the nerve cells that control the heart beat, blood pressure and digestion. Neuroblastoma may also appear in the chest, neck or pelvis. During diagnosis they are often found to have already spread; there may be metastasis in the lymph nodes, liver, bones, bone marrow or other organs.

Neuroblastoma may be divided into two types of tumour:

• Ganglioneuroma, which does not spread but may grow.
• Ganglioneuroblastoma, which may grow and spread.

The first symptoms of neuroblastoma may be imprecise and include fatigue, weight loss or weight gain. 

Abdominal tumours may cause abdominal pain or difficulty urinating or with bowel movements.

Tumours pressing on the spinal cord may cause weakness in the arms and legs and the patient may find it difficult to move their arms or to walk.

If the tumour has spread to the bones, it may cause pain and, if it has spread around the eyes, it may cause bulging eyes and dark circles. There may also be inflammation or a lump around the affected tissue. Other less common symptoms are weight loss and fever.

Who is affected by neuroblastoma?

Malignant neoplasms in children and teenagers are rare, but they are one of the most important causes of morbidity and mortality in these age groups. Around 1,000 patients under 14 years of age are diagnosed with cancer every year in Spain. Neuroblastoma makes up 10% of cancers in children.

Diagnosis

If the doctor  believes the child may have a neuroblastoma, he/she will carry out a very precise examination and request several diagnostic tests to determine the size and location of the tumour. The most common tests are: 

• blood and urine test
• ultrasound scans
• magnetic resonance imaging
• bone marrow aspiration, generally  from a bone in the back
• tumour biopsy to confirm diagnosis

Typical treatment 

Treatment is administered taking into account the state of the disease, the child’s age and the location of the tumour. 

Some low-risk neuroblastoma may disappear without treatment, and others can be cured with surgical treatment alone. However, many tumours in the “high-risk” category will already have spread tumour cells to other parts of the body, and in these cases it is necessary to use a combination of chemotherapy, surgery, radiotherapy, bone marrow transplant and immunotherapy.

Prevention 

There are currently no measures to prevent this kind of tumour. 

This is a congenital heart defect caused by a hole in the wall separating the left and right chambers of the heart. This communication affects both the atria (the upper chambers) and the ventricles (lower chambers).

The cause of the defect is the formation of endocardial cushions, which are responsible for the creation and joining of the atrioventricular valves with the cardiac septum, the  wall that separates the two chambers.

This heart defect is also characterised by having just one atrioventricular valve  in place of two; the tricuspid and mitral valves.

Symptoms

Children with this heart defect show classic symptoms of heart insufficiency or failure. This includes frequent respiratory infections, difficulty feeding and gaining weight.

Who is affected by complete atrioventricular septal defect?

This makes up 4 % of all heart disease and around half of the heart defects that affect children with Down's syndrome.

Diagnosis

Diagnosis is via 2D echocardiogram.

Typical treatment

New-born babies tend to undergo surgery for this heart defect when they are six months old. The procedure consist of closing the interventricular or interatrial hole using a patch. The atrioventricular valve is also reconstructed to create a valve on the right side and another on the left.

In children under six months with severe symptoms, a prior palliative procedure called pulmonary cerclage is carried out. This procedure is carried out by narrowing the pulmonary artery using a band to decrease excessive pulmonary flow.

What is diphtheria?

The characteristic symptom of respiratory diphtheria is a greyish white membrane (pseudomembrane) covering the tonsils and pharynx. The membrane tends to be difficult to remove and in doing so the area bleeds easily.

Symptoms

The most common symptoms are:

• Fever, feeling generally unwell and respiratory obstruction.
• Neurological and cardiac complications in the most serious cases. These complications can lead to death.

Who does diphtheria affect?

Thanks to vaccination, there have been no cases diagnosed in Spain for over thirty years. In 2015, however, there was one case in a child who had not been vaccinated.

Diphtheria is transmitted through respiration or close physical contact with an infected person or a healthy person carrying the bacteria but who has never shown symptoms.

The incubation period is two to seven days and it can be spread from seven days before symptoms appear up to two or three weeks afterwards. 

Diagnosis

Diagnosis is confirmed via microbial culture of clinical samples (swabs from the nasal mucosa, pharynx or pseudomembranes).

Typical treatment

Diphtheria antitoxin medication and an antibiotic such as penicillin G procaine must be given as soon as possible (in the first 48 hours after showing symptoms, without waiting for the laboratory diagnosis).

Prevention

Vaccination is the main measure to prevent diphtheria and is effective in 95% of cases. It must be periodically boosted as the effects of the vaccination do not last for ever.

Epidemiological monitoring and prophylaxis are essential to control the bacteria and to avoid secondary cases.

What is Chagas disease?

Chagas disease is endemic to Latin America and is a global health challenge due to migration from countries in the region. Transmission via insect is mainly found in Bolivia, which has the highest number of cases. There are also infections in north-west Argentina, Peru, Paraguay, Ecuador, Nicaragua and southern Mexico. Outside these areas it is more commonly transmitted from mother to child.

Symptoms

Most patients with Chagas disease do not show any symptoms, which makes it difficult to detect. The disease develops in two phases:

• Acute: there are no symptoms and this means it goes undetected or is confused with other diseases. After an incubation period of 7-10 days, the acute phase resembles a case of flu, so it usually goes unnoticed.
• Chronic: in 30-40% of cases the disease results in cardiac and/or gastrointestinal complications which may be serious and therefore require specific treatment.

Who is affected by Chagas disease?

This disease affects six to seven million people, but 60 million are estimated to be at risk of infection.  There are 11,000 cases in Catalonia.

Diagnosis

• In the acute phase (mainly in babies) the disease is diagnosed by detecting the parasite in the blood. Microscopy and molecular techniques (PCR) are used for this.
• In the chronic phase (when acquired in childhood), the disease is diagnosed by detecting antibodies in the serum. In this phase of the disease, molecular techniques work in cases where the disease has been reactivated or as a marker of the failure of a specific treatment.

Typical treatment

There are currently two drugs that are used to treat Chagas disease: Benznidazole and Nifurtimox. Specific treatment is needed to address any cardiac and/or gastrointestinal complications that may arise.

Prevention

Since 2011, Catalonia has implemented the “Protocol for screening and diagnosing Chagas disease in pregnant Latin American women and their babies”. This programme allows possible congenital cases to be detected, and at the same time actively screens blood and organ donations from donors.

Types of strokes

Strokes can be grouped into two broad categories depending on the reasons behind them:

• Ischemic strokes: these make up approximately 80-85% of cases. They can be caused by the formation of a clot that completely obstructs a cerebral artery that was previously narrowed by an accumulation of fat, cholesterol or other substances (atheroma plaque), causing cerebral thrombosis or thrombotic stroke. They can also be caused by a clot from the brain itself or from another region (usually the heart) becoming detached and moving through the arteries to reach the brain, causing a stroke due to cardioembolism.
• Haemorrhagic strokes: these occur in the remaining 15-20% of cases and are caused by the rupture of a cerebral vessel, caused by elevated blood pressure (hypertension) or by defects of the cerebral vessels (tobacco, drugs, alcohol, etc.). This haemorrhage compresses the system, making it difficult for the brain to irrigate normally, and causing tissue damage by altering the chemical balance that neurons need to function.

When blood flow is temporarily interrupted (for between one and 24 hours), this is known as a Transient Ischemic Attack (TIA); however, if the duration is longer or the brain scanner detects necrosis (neuronal death), it is considered an ischemic stroke. TIA is a predictor of vascular disease and, in the case of stroke, is a warning that the person is at risk. In fact, 40% of people who suffer a stroke have previously suffered a TIA.

Symptoms 

In the event of the sudden onset of one or more of the following symptoms, action should be taken quickly by calling 112:

• The most common symptom is the loss of strength affecting one side of the body or face. If it affects one limb it is called monoparesis, but if it affects both limbs on one side of the body, it is known as hemiparesis. There can also be complete paralysis of one extremity (monoplegia) or both (hemiplegia), weakness on both sides (paraparesis) or complete paralysis on both sides (paraplegia).
• Thesudden alteration of sight is the loss of vision in one eye or partial in both, seeing double, or an inability to appreciate objects somewhere in the visual field.
• Difficulty speaking, understanding or articulating language can occur in the form of alteration in articulation and pronunciation that makes it hard to talk and be understood (dysarthria) or a problem with expressing oneself or understanding what is being said to you (aphasia).
• A loss of feeling in the face, arm and/or leg on one side of the body is the abnormal sensation of senses or sensitivity, often accompanied by weakness in the region, in the form of tingling, numbness, or itching (paresthesia); reduced sense of touch, and sensitivity to heat and/or pain (hypoaesthesia); the complete absence of all forms of sensitivity in the affected area (anaesthesia); or the inability to perceive simultaneous stimuli on both sides of the body (sensory extinction).
• Instability, imbalance and inability to walk is when the person presents irregularities in the rhythm, amplitude, and strength of movements, which are imprecise and uncoordinated (asynergy).
• Intense, sudden onset headaches are commonly associated with cerebral haemorrhages, although they may also appear in ischemic strokes.

Who can suffer a stroke?

Anyone can suffer a stroke, regardless of age and physical condition, although they are more common in the elderly. About 75% of cases occur in people over 65, although they increasingly affect young adults due to their lifestyle habits (between 15 and 20% are under 45). Strokes can also affect children: in Catalonia alone, 900 children live with a disability as a result of a stroke.

This disease can also be known by other names, such as apoplexy, cerebral vascular accident, seizure and thrombosis. In Catalonia, more than 13,000 people are admitted each year for a stroke and, unfortunately, they are not always reached in time to save the patient. 

The cause

To determine the cause of a stroke it is necessary to perform a brain scan (CT). The scan can be completed by reviewing the condition of the cerebral and cardiac vessels, taking into account risk factors and chronic diseases presented by the patient. However, it is not always possible to discover the origin. 

Knowing the cause of a stroke allows us to establish the most appropriate treatment to prevent it from happening again. Depending on the aetiology (cause), it can be classified as:  

• Atherothrombotic: a narrower-than-usual vessel is detected as a result of fat accumulated in the arteries (cholesterol). Regular checks are needed to ensure that the artery is not clogged. In more severe cases, surgery may be necessary.
• Cardioembolic: a cardiac arrhythmia is located that alters the normal rhythm of the heart, producing clots or causing such clots to come loose. Drugs are supplied to correct the arrhythmia and it is advisable to follow anticoagulant treatment.
• Lacunar: the result of an obstruction in the small arteries of the brain (called perforators) due to hypertension.
• Uncommon: strokes due to less common causes, such as the presence of systemic diseases (infection, neoplasia, coagulation disorders, etc.) or other unusual factors (arterial dissection, aneurysm, arteriovenous malformation or cerebral venous thrombosis, etc.).
• Indeterminate: when the above subtypes have been discarded or more than one possible cause coexists.  

Diagnosis 

If a stroke is suspected, a neuroimaging test (a CT or MRI) should be performed as soon as possible, which will tell us about:

• The type of stroke (ischemic or haemorrhagic).
• Location and condition of the brain injury.
• Assessment of brain tissue at risk, useful data in determining therapy.

Specialists may request other tests such as a chest x-ray (performed upon admission as a first assessment), a doppler or transcranial duplex (to see whether there is a possible intracranial occlusion or stenosis, and where it is located), blood tests (to find out the status of risk factors, immunological and coagulation study, serologies, hormones, renal function, etc.) or a cardiological study (if a cardioembolic stroke is suspected).

After diagnosis, specialists may ask to repeat the tests to detect any changes by comparing the images, or request other tests. 

Typical treatment 

Stroke treatment should be applied immediately, as rapid action can lessen the effects. However, a rehabilitation period is usually needed to eliminate or reduce possible after-effects.

After suffering a stroke, the risk of having another is higher, so it is necessary to take medication to reduce the risk, always following medical guidelines. The first year after suffering a stroke is when there is the highest risk of relapse.

Suffering a second stroke may have a fatal outcome. In survivors, it leads to an increase in the degree of disability and risk of dementia, as well as a higher rate of institutionalisation.

Recovery

The impact may be different for each patient. Symptoms will be more or less severe depending on the area and volume of the brain affected, as well as the general state of health prior to the event.

In the case of a transient ischemic attack (TIA), which does not usually leave after-effects, or ischemic strokes, if the patient responds well to treatment, recovery is virtually immediate. At other times, the recovery is longer term and takes weeks or months, leaving some sort of after-effects.

There may also be a worsening of the patient due to neurological causes or complications such as fever, infections or others. In more severe cases, it can lead to death.

Clinical follow-up

Once the patient is discharged, the primary care team takes responsibility for the patient, and will monitor risk factors and other chronic diseases. In complex cases, patients will need to visit specialists, such as neurologists.

The return home after hospital discharge will vary depending on the severity of the incident and the patient's family situation. Similarly, reintegration into daily life will depend on the after-effects experienced by each patient.

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Myocardiopathies are diseases of the myocardium, the muscular tissue of the heart. There are several types of myocardiopathy: dilated, hypertrophic, non-compaction, arrhythmogenic dysplasia of the right and/or left ventricle and restrictive. Imaging techniques are used for diagnosis. Medical treatment and, where necessary, fitting a resynchronisation defibrillator can avoid complications and improve patients’ quality of life.

Pharmacological provocation tests are important for diagnosis of conduction diseases such as Brugada syndrome, long QT and short QT syndrome and catecholaminergic polymorphic ventricular tachycardia. Treatment is medical and sometimes a defibrillator device may need to be fitted.

Inherited aortopathies, or diseases of the aorta, such as Marfan syndrome, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome require  imaging techniques to diagnose them accurately.  Medical treatment and elective surgery prevent complications arising.

Symptoms

Symptoms of inherited heart disease are:

• Difficulty breathing, known as “dyspnoea”.
• Syncope  
• Thoracic pain  
• Sudden death  

Who do inherited heart diseases affect?

The prevalence of these disorders varies between 1/500 for hypertrophic myocardiopathy, 1/5,000 for conduction disorders and 1/5,000-10,000 for Marfan syndrome. Some of these diseases can therefore be said to be rare.  

Diagnosis

Diagnosis is reached using:

• Imaging tests (echocardiogram, MRI, CT scan)
• Genetic testing
• 24-Hour Holter electrocardiogram
• Stress tests
• Pharmacological provocation tests  
• Electrophysiological study 

Typical treatment

Treatment may require aortic surgery, the use of a resynchronisation automatic defibrillator implant or septal ablation.

Prevention

Knowing the family medical history is important for all inherited heart diseases. Family screening can detect undiagnosed cases and lead to early treatment, and in some cases, preimplantation diagnosis.