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Rheumatic polymyalgia is an inflammatory rheumatic disease, of unknown origin, that mainly affects people over 50 and causes pain and rigidity in the shoulder and hip areas (shoulder and pelvic girdles). Between 15% and 30% of cases can be linked to giant cell arteritis. In the immense majority of cases it is accompanied by an increase in the erythrocyte sedimentation rate (ESR), analytic proof that, in general, indicates that an inflammatory process is active in our body.
The symptoms usually begin with symmetrical pain in the shoulders, and difficulty raising the arms and doing everyday tasks like combing hair or washing. If it affects the hips, the patient usually has difficulty getting up from a chair without using their hands. Less frequently, it may affect the neck and lower back. Pain and rigidity are more intense after long periods of rest, such as getting up in the morning.
Everyday activities such as getting up from a chair or the toilet, turning over in bed, combing hair or getting dressed become difficult and, in many cases, help is needed.
On some occasions it is accompanied by other, less specific symptoms, such as fever, loss of appetite or weight loss. All these changes usually appear in a relatively short space of time, either within a few weeks or months.
Rheumatic polymyalgia typically appears in over 50 year-olds. 50 out of every 100,000 people over this age suffer from it each year. It is twice as common in women than in men and is most frequent in white people.
The exact cause is unknown. Its appearance in the elderly leads to thought of some factor (unknown) linked to ageing, along with genetic factors and anomalies in the individual’s immune system.
With regard to genetic factors, it is known that familial aggregation exists. That is to say, it is more frequent in members of the same family.
There is no single test to diagnose this disease. The diagnosis is reached using the combination of the symptoms, physical examination by the rheumatologist and blood test results, where all this is presented in people over 50.
The most significant discovery in the blood test is the increase in ESR, which occurs in the majority of patients. It is worth pointing out that this change in the blood is not specific to this disease as it is elevated in any inflammatory or infectious process occurring in the body. In general, ESR is considered normal up to 15mm in the first hour in men, and up to 20mm/hr in women, but this increases with the age of the individual. In the event that there is Rheumatic polymyalgia, these figures reach much higher values, generally above 50mm/hr.
In the same way, C-reactive protein (CRP) is also a marker that serves to detect inflammation and is usually found to be high.
The basis for treatment of rheumatic polymyalgia is corticosteroids. Corticosteroids are given in low doses (between 10mg and 20mg per day), preferably taken in a single dose in the morning. The symptoms effectively improve quickly (usually in the first 24-48 hours), the pain and stiffness disappear, and function and autonomy are recovered.
Once the symptoms have disappeared, the dose prescribed by the rheumatologist will be progressively decreased in order to find the lowest possible dosage to control the disease. For controls, EST and CRP values are also taken into account as they usually go back to normal as the symptoms disappear, which demonstrates response to the treatment.
Polimialgia-Reumatica-y-Arteritis-de-celulas-gigantes
The Musculoskeletal Techniques and Ultrasound Unit (MTU) at Vall d'Hebron Hospital Rheumatology Department is devoted to locomotive system ultrasound in all its forms (diagnostic/therapeutic) and other procedures and interventions and serves adult and paediatric patients.
Musculoskeletal ultrasound is a non-invasive technique allowing structures to be assessed in real time, which enables precise diagnosis and monitoring of rheumatic disorders. It has become a highly useful, essential tool in the field of rheumatology.
Paediatric age onset systemic autoimmune diseases are infrequent, complex entities that require a multi-disciplinary approach. The most frequent include juvenile onset systemic lupus erythematosus, mixed connective tissue disease, juvenile onset Sjögren’s syndrome, juvenile dermatomyositis, juvenile scleroderma, and paediatric age onset vasculitis, such as Kawasaki disease, IgA vasculitis (also known as Schönlein-Henoch purpura), polyarthritis nodosa and Takayasu disease.
The clinical manifestations of these diseases are highly varied. Juvenile systemic lupus erythematosus may affect several organs in the body, particularly the skin, joints, blood, kidneys and the central nervous system. In children, it is common for fever to appear without an infectious cause or an increase in the size of the lymph nodes.
Juvenile dermatitis is characterised by the presence of fatigue, muscle pain, weakness and the appearance of rashes that may affect the face, with inflammation around the eyes (periorbital oedema) There may also be reddening of the cheeks (malar rash) and other parts of the body (top part of the knuckles, knees and elbows), where the skin may become thicker (Gottron’s papules). Juvenile scleroderma, whose name comes from the Greek and means “hard skin”, is characterised by the presence of lesions on the skin and affects various organs. Two types can mainly be identified: localised scleroderma and systemic scleroderma.
Kawasaki disease is characterised by the presence of a high fever of unknown origin, irritability, reddening of the eyes and various skin lesions, such as a rash on the torso, flaking fingers and reddening of the tongue (normally called “strawberry tongue”). The involvement of the heart is the most serious manifestation of Kawasaki disease, due to the possibility of long-term complications.
Schönlein-Henoch purpura is characterised by a rash on the legs called “palpable purple” because the skin lesions can be touched, and painful and swollen joints, abdominal pain and kidney problems may appear.
All the conditions within the group are infrequent and have an incidence of less than 5 cases per 10,000 inhabitants, for which reason they are considered to be rare conditions. The spread is different depending on the disease. For example juvenile systemic lupus erythematosus, along with juvenile dermatomyositis and scleroderma, are more common in girls, while Schönlein-Henoch purpura is more common in boys.
Diagnosis of paediatric systemic autoimmune diseases is eminently clinical and we are guided by classification and diagnostics criteria in many of them. Blood tests are important for diagnosing the different systemic autoimmune diseases, as various autoantibodies can be identified that can help with the diagnosis and monitoring of these diseases. Supplementary tests, such as a capillaroscopy, chest X-ray, respiratory function tests, nuclear magnetic resonance and echocardiogram, amongst others, can be helpful when we come to approaching a paediatric patient with a suspected systemic disease.
Treatment fundamentally depends on the type of condition and the response to the therapy chosen. There is not currently any specific curative treatment for each one of the diseases, but the treatments available will help to control the signs and symptoms of the disease and prevent complications, including permanent damage to organs and tissue.
Idiopathic inflammatory myopathies are a heterogeneous group of illnesses whose main feature is muscular weakness and identification of an underlying inflammation in the muscular biopsy. The group includes dermatomyositis, polymyositis and, recently, inclusion body myosotis, which is most probably the least inflammatory, as well being the myopathy most frequently acquired by the over 50s. Although the main target organ is muscle, the skin and lungs, amongst other internal organs, are frequently affected, for which reason inflammatory myopathies are considered to be systemic illnesses.
The most common presentation of these illnesses is muscular weakness, which usually has a characteristic effect on the proximal skeletal muscles, that is to say, on the shoulder and hip girdles, which makes activities needing these muscles to work normally difficult, such as hanging out laundry, combing hair, going up stairs or getting up from a chair. Skin manifestations are characteristic in dermatomyositis and we can identify a wide range of lesions. The majority of them have a certain photosensitivity component which means they usually appear in areas exposed to the sun. Lilac-coloured or heliotrope palpebral oedema are considered to be pathognomic, as are Gottron's papules, which appear on the knuckles of the hands. Similar lesions can be seen in the extension areas, such as elbows and knees, and also on the hair line on the scalp and nape of the neck. Other cutaneous lesions, which are V-shaped on the neckline or shawl-shaped on the back, are also related to the stimulation of the sun.
The most well-known respiratory infection in patients with dermatomyositis and polymyositis is interstitial lung disease. In general, its inception is usually sub-acute or chronic and the clinical findings during the examination can detect dry, crackling rales, in “velcro”, which are characteristic of pulmonary fibrosis. Cardiac and digestive involvement is infrequent and should be assessed in each patient individually.
Inflammatory myopathies can be considered to be within the rare disease group due to their low incidence. Epidemiological studies carried out around the world set out an average annual incidence of 2.1 to 7.7 new cases for every million inhabitants per year.
It is considered to be a universally distributed disease, although it is a little more prevalent in Caucasians and less frequent in black people. It is twice as frequent in women than men. In addition, although a juvenile form exists that usually appears before the age of 16, signs of the illness are more frequent in 30 to 40 year olds.
The diagnosis is made using the convergence of clinical criteria. The most relevant finding in blood tests is elevated muscular enzymes, such as creatine kinase and aldolase, along with acute phase reactors such as the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). Muscular biopsy is, for some authors, the benchmark test for diagnosing inflammatory myopathies.
In the case of dermatomyositis and, in general, inflammatory myopathies, there are a series of antibodies that help the clinician to classify the disease. Anti-Jo-1, anti-PL-7, anti-PL-12, anti-U1 and anti-PM-Scl, etc, stand out amongst these antibodies. Another complementary test enabling assessment of the extent of the adverse effect on muscles is the nuclear magnetic resonance which, in turn, is valuable when monitoring progress. Depending on whether there is pulmonary, cardiac or digestive involvement, the extra examinations needed to assess each affected organ will be carried out.
Treatment of inflammatory myopathies is based on administering glucocorticoids and immunosuppressants, without forgetting physical therapy or rehabilitation, even in the acute phase. A third of patients respond to a single glucocorticoid treatment, but the majority need the addition of a new immunosuppressant, such as disease modifying drugs, including methotrexate, ciclosporin, cyclophosphamide, azathioprine, mofetil mycophenolate and tacrolimus. Intravenous immunoglobulins may also be used as they act to improve muscle weakness. Biological therapies, such as etanercept, infliximab and rituximab, have been shown to be effective in some clinical cases or observational studies. In any event, the treatment must be individual for each patient.
Miopatías Inforeuma
The Paediatric Rheumatology Unit (PRU) at Vall d’Hebron University Hospital sits within the Rheumatology Department and is tasked with specialist care of locomotive system inflammatory disorders and other autoimmune diseases affecting paediatric patients. It consists of two rheumatology specialists with specific training in paediatric rheumatology disorders, Dr Estefanía Moreno Ruzafa and Dr Mireia López Corbeto, a specialist in Paediatrics with specific training in paediatric rheumatology, Dr Laia Martínez Mitjana, and a nurse specialising in rheumatic disorders in children, Julia Vivancos Pons.
The Paediatric Rheumatology Unit has always been a centre of reference within our Rheumatology Department. We have a close relationship with other paediatric units with the aim of setting up common strategies for diagnosing, treating and monitoring our patients.
The Bone Metabolism Unit (UMO) focuses on detecting, treating, and monitoring patients with metabolic bone disorders. Our specialized care comprises pathologies ranging from osteoporosis, which is the most common of these disorders, to Paget's disease and osteomalacia, and includes rare diseases like osteogenesis imperfecta.
We concern ourselves with detecting, treating, and monitoring patients with premenopausal, postmenopausal, and male osteoporosis, along with osteoporosis that can appear secondary to drugs and other diseases, such as transplants, blood and endocrine diseases, HIV infection, bariatric surgery, breast cancer, and chronic kidney failure. These pathologies can, through various mechanisms, cause osteoporosis. That is why we actively monitor these patients, coordinating with the different specialities treating them.
The Rheumatology Department at Vall d'Hebron Hospital has a long and successful history of treating patients with immune-mediated inflammatory diseases (IMID). The IMIDs are a group of systemic illnesses that share common characteristics and are of unknown aetiology. Depending on which organ is most severely affected, different medical specialities are involved in caring for these patients. In addition, we have a wealth of experience in precision medical research in this area.
The Inflammation and Autoimmunity Unit is divided into three large departments:
Among the chronic joint diseases, we primarily find rheumatoid arthritis and spondyloarthritis, which includes axial spondyloarthritis and psoriatic arthritis.
Osteogenesis imperfecta (OI), also known as "brittle bone disease", is a genetic disorder that affects the production of collagen, a principal element in connective tissue and bone. These individuals easily sustain fractures, even without trauma. There are various types of OI, so symptoms can vary. In most cases, the disease is caused by a mutation in the gene coding for type I collagen.
OI can cause fragile bones, short stature, delays in growth, deformities of the spinal column and other bones, blue sclera, hearing loss, and problems with the formation of the teeth (dentinogenesis imperfecta). In its most severe form, babies die shortly after birth. There are mild forms that can manifest with premature osteoporosis.
It is a very infrequent disease and is considered rare. The estimated incidence of OI is
approximately 1 out of every 10,000-20,000 births, but we must keep in mind that the milder forms may not be diagnosed.
If a patient presents symptoms like those mentioned above, leading to the suspicion that they may have this disease, a genetic study must be carried out.
It requires a multidisciplinary approach. Treatment aims to improve the impact on quality of life and prevent complications. Physical therapy, occupational therapy, detecting and treating dental and respiratory problems, dealing with hearing loss, and surgery to correct deformities are very important. Pharmacological treatment is carried out using widely employed osteoporosis drugs.
Osteomalacia is a skeletal mineralisation disorder. The bones are soft and this causes deformation and fractures, even without trauma, especially affecting the pelvis, ribs, and spinal column. In addition, it can cause pain, especially in the spinal column, pelvis, legs, and ribs, as well as weakness in the legs. In childhood, this disorder is called rickets and it can also negatively affect growth.
In order to correctly mineralise, bones need calcium and phosphate. The absorption of these substances (especially calcium) depends on vitamin D, which is synthesized in the skin using UVB rays from the sun. Thus, osteomalacia is caused by a severe deficiency in vitamin D and/or phosphate.
The main causes of a severe vitamin D deficiency are varied and include:
Another, more infrequent cause is phosphate deficiency, either congenital (such as X-linked hypophosphataemic rickets or fibrous dysplasia) or acquired (Fanconi syndrome, tumours, IV iron administration, antiretroviral therapy, etc.).
The diagnosis will be performed based on the symptoms, blood analysis, urinalysis, and X-rays.
Treatment consists of correcting the vitamin D and calcium deficiencies and also treating the causes underlying these.
This is the second most frequent bone disorder, following osteoporosis. It affects 1.5-3% of the population over 65 years of age. It was described by Sir James Paget in 1876. In this disease, the natural process of the destruction of old bone and the formation of new bone (called bone remodelling) is abnormal and disordered. As a consequence, the bone is fragile, it increases in size, and it presents deformity. Thus, it also receives the name of deforming osteitis. It usually affects the cranium, spinal column, and the pelvis. The risk of having this disease increases with age, and it is very rare in young people.
The underlying cause is not known for sure, but it's known to have an important genetic and family component. Thus, the probability of suffering this disease increases if family member has it. It could also be associated with a viral infection like measles or rubella.
It usually does not produce symptoms. In fact, the diagnosis is usually made based on an unusually high alkaline phosphatase level or findings suggestive of the disease on imaging tests that were ordered for another reason. However, it can cause pain in the affected area that does not improve with rest due to the increase in bone, as well as redness and heat secondary to the increased number of blood vessels in that area. If it affects a joint, it can cause arthrosis. If it compresses nerve roots, it can cause sciatica or even deafness (if the head is affected). It can also cause fractures. A rare complication is the degeneration into bone cancer (osteosarcoma).
Bone scintigraphy is the nuclear medicine technique that reveals which bones are affected by the disease.
The medical treatment includes pharmaceuticals to improve pain (analgesics and anti-inflammatory agents) and pharmaceuticals that inhibit bone remodelling, such as biphosphonates (zoledronat, alendronat), which are widely used for osteoporosis. Measures to improve quality of life, such as using a cane if arthrosis is present or using hearing aids if the illness has caused deafness, are very important. If a bone or joint is a severely affected, surgery can be considered. In general, the illness responds well to treatment and has a good prognosis.
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