SAPHO syndrome is a rheumatic disease associated with the cardinal symptoms of synovitis, acne, pustulosis, hyperostosis and osteitis. The cause is probably a skin infection. So far, treatment has been purely symptomatic.
What is SAPHO Syndrome?
Rheumatic diseases form a group of diseases with associated pain conditions of the musculoskeletal and supporting apparatus. A diverse disease from the group of rheumatic diseases is the so-called SAPHO syndrome. The designation is an acronym made up of the first letters of the characteristic symptoms. For everything about hyponatremia, please visit foodezine.com.
The main symptoms are therefore synovitis, acne, pustulosis, hyperostosis and osteitis. In most cases, the individual symptoms are not immediately identified as a coherent clinical picture due to the variability in their severity. SAPHO syndrome usually affects young women and men.
Neither the incidence nor the prevalence of the syndrome are certain. Since only about 20 cases have been documented within 20 years, a relatively low frequency is assumed. The syndrome is associated with skin infections, psoriasis, sacroiliitis, enteric disease, and Lyme disease.
The exact etiology of SAPHO syndrome is not yet known. Due to the variability of the disease, a uniform developmental history cannot be expected. Since all cases of the syndrome appear to be associated with dermatological symptoms, a causative skin infection is currently considered the most likely cause.
The etiopathogenesis is therefore speculated about a causal subclinical infection in the form of acne, for example, from which an immune-reactive osteomyelitis could develop. The concomitant symptomatic periostitis and the bone pain that occurs in phases in the patients could also be due to this cause.
The same applies to the adjacent synovitis. How the connections could look in detail has not been finally clarified. Genetic factors could also be involved in the development of the disease. At least that is what the cmo-mouse animal model, which documented familial clusters, suggests.
Symptoms, Ailments & Signs
Patients of the SAPHO syndrome suffer from symptoms of different degrees and great variability. The cardinal symptoms are the acronym-forming symptoms of synovitis, acne, pustulosis, hyperostosis and osteitis. In many cases, the symptoms are completely different in different patients.
The key symptoms are usually associated with other signs of illness, in particular with exhaustion, severe pain symptoms or gastrointestinal symptoms. Because of their dermal symptoms, patients are often disfigured. Because of their pain, they are also only able to participate in everyday life to a limited extent.
The pustulosis of those affected is usually concentrated on the hands and feet. Hyperostosis occurs primarily in the sternoclavicular joint. Osteitis can manifest itself as spondyloarthropathy, spondylodiscitis, chronic recurrent multifocal osteomyelitis, or pustular arthroosteitis. Not every patient has to show every one of the five cardinal symptoms.
Diagnosis & course of disease
An increase in the markers HLA-B8 and HLA-B27 is not a mandatory diagnostic criterion for SAPHO syndrome. Only some of the patients show an increase. For the diagnosis, the first step is to look at the symptoms together. In many cases, the variability of the expression makes an early diagnosis difficult.
Diagnosis is based on imaging methods such as skeletal scintigraphy and MRI, since all laboratory findings in SAPHO syndrome are considered to be uncharacteristic. Early diagnosis suggests a favorable prognosis. Since the syndrome as a whole is usually only diagnosed at an advanced stage, an absolutely favorable prognosis is rarely to be expected. In later stages of the syndrome, the prognosis depends heavily on the symptoms, which can vary greatly in their severity from case to case.
First and foremost, those affected by SAPHO syndrome suffer from severe skin problems. This can also lead to reduced aesthetics, so that those affected no longer feel well or suffer from inferiority complexes and significantly reduced self-esteem.
Bullying and teasing can also occur and have a negative effect on the patient’s mental state, so that the syndrome can lead to mental disorders or depression. Furthermore, most patients of the syndrome also suffer from exhaustion and permanent tiredness, which, however, cannot be compensated for with the help of sleep. Even everyday things and activities are difficult for most of those affected, so that they are dependent on the help of other people in everyday life.
Most patients are dependent on psychological treatment to alleviate the symptoms. However, medication is also necessary for this syndrome. Life expectancy is usually not affected.
When should you go to the doctor?
SAPHO syndrome must always be treated by a doctor. In the worst case, it can even lead to the death of the person affected if the syndrome is not treated in time. For this reason, early diagnosis and treatment of the syndrome always have a positive effect on the further course of the disease.
A doctor should be consulted if the patient suffers from very severe acne. This also leads to the formation of pustules on the skin and the skin is usually also affected by redness and itching. In many cases, fatigue is also an indication of the disease, especially if it occurs over a longer period of time and without any particular reason. However, not all symptoms have to be present to indicate SAPHO syndrome.
The first diagnosis of the syndrome can be made by a general practitioner or by a dermatologist. The life expectancy of the affected person is not limited or reduced by the disease. As a rule, the syndrome can be treated relatively well, so that there is usually a complete cure.
Treatment & Therapy
The therapy of the SAPHO syndrome corresponds to a purely symptomatic treatment. Since the causes have not been finally clarified, only the individual symptoms can be treated. The syndrome has not yet been cured. Non-steroidal anti-inflammatory drugs such as NSAIDs are available for the symptomatic treatment of patients. In addition, patients usually have to change their lives as part of the treatment and, for example, permanently avoid painful stress.
In many cases, physiotherapeutic care has led to an improvement in the symptoms and, above all, in the pain symptoms. Since an immunological connection is obvious, immunosuppressive substances such as corticosteroids are currently used to treat those affected. Therapy approaches with substances such as MTX and colchicine have also been described.
Additional therapeutic approaches are available with bisphosphonates such as zoledronic acid. Individual antibiotics are also currently being tested, such as doxycycline and azithromycin. Interferon therapy can also serve as an immunosuppressive therapy. Since SAPHO syndrome is often perceived by patients as a disfigurement, psychotherapeutic care is provided in addition to physical therapy in individual cases.
In therapy, patients learn to deal better with their illness and to process the experience of the disfigurement. A stabilization of the psychological situation has shown positive effects on the course of the disease in connection with many different diseases and in individual cases even alleviated subjectively felt pain problems.
Although there are now logical speculations about the cause of the SAPHO syndrome, the definitive causes are still not known in detail. Since the etiology has not been elucidated, no prophylactic measures are currently available. Nothing can prevent the syndrome at this point in time.
In most cases, those affected with SAPHO syndrome have only very few and only very limited direct follow-up measures available. For this reason, those affected by this disease should consult a doctor very early on, in order to prevent possible other complications and symptoms, since self-healing cannot occur. Since the SAPHO syndrome is a genetic disease, it can usually not be completely cured.
Therefore, if you wish to have children, a genetic test and counseling should always be carried out first in order to prevent the disease from recurring in the offspring. In most cases, the SAPHO syndrome can be alleviated with physiotherapy or physiotherapy. The person concerned can also carry out many of the exercises at home in order to prevent the occurrence of other complaints and to speed up healing.
Most of those affected by SAPHO syndrome are also dependent on taking medication. All the doctor’s instructions should be followed, and if you have any questions or are unclear, you should consult a doctor first. The prescribed dosage and regular intake must also be observed.
You can do that yourself
Patients with a diagnosed SAPHO syndrome can take various measures to alleviate their symptoms. Adequate body heat, avoidance of drafts and wearing protective clothing in a cold environment is advisable. They promote well-being and avoid possible complications.
The musculoskeletal system must be adequately protected against overload situations. The fulfillment of everyday tasks should be carried out according to the specifications of the organism. If possible, the completion of physical activities or obligations in everyday life should be restructured. They should be redistributed in consultation with people from the immediate vicinity. Exercises and training units from the field of physiotherapy can help to alleviate existing symptoms. These training courses can be used independently at any time by those affected in everyday life. They support the organism and help to cope with the disease.
Cognitive therapies can help in dealing with existing pain. Patients report that methods of relaxation are also helpful. The regular use of autogenic training, meditation or yoga have shown that they can bring success as opportunities for self-help. Patients often complain of exhaustion. You should treat yourself to sufficient rest periods in everyday life and give your body time to regenerate. It is also advisable to optimize sleep hygiene.