Collagenoses are chronic inflammatory connective tissue diseases. The natural tolerance of the immune system to endogenous structures is abolished. Various organs are severely affected by collagenoses. The symptoms are very different. There are different forms of collagenosis, which we treat in our clinic.
Sjogren’s syndrome is the most common collagenosis. Symptoms include dry mouth and eyes; swelling of salivary glands occurs. In sjogren’s syndrome, the frequency of non-hodgkin’s lymphoma (B-cell lymphoma) is increased. sjogren’s syndrome is usually accompanied by the presence of autoantibodies. In addition to objectifying the dryness of the mouth and eyes, it is also important to detect sialadenitis (inflammation of the salivary glands) on imaging (for example, sonography, MRI or scintigraphy) or with functional measurements. Histological evidence is obtained from a sublingual gland and quantified with the so-called focus score.
Classification criteria sjogren’s syndrome:
Systemic lupus erythematosus (SLE)
SLE is characterized by multi-organ involvement. Therapy of SLE depends on the severity of the organ manifestations present. There are different grades of the diseases from mild to severe organ manifestation.
The classification criteria are as follows:
Treatment of SLE depends on the severity of the organ manifestations present. For milder manifestations or as an additional medication for all patients, hydroxychloroquine is used, for more severe manifestations azathioprine, and for kidney involvement also mycophenolate. The most severe manifestations, such as CNS vasculitis or severe renal involvement, may be diagnosed with. Treated with cyclophosphamide according to the EURO-lupus regimen (intravenous). In refractory milder cases (for example, skin lesions and arthritis), belimumab, a monoclonal antibody against BAFF, can be used.
Systemic sclerosis was formerly known as scleroderma. The name comes from the involvement of the skin (skin fibrosis). It is the organ involvement such as pulmonary fibrosis, pulmonary arterial hypertension (elevated blood pressure), myocarditis (disease of the heart muscle), or kidney involvement (renal crisis) that affects overall survival. Involvement of the digestive tract is also not uncommon.
Symptoms of systemic sclerosis:
- "tricolore phenomenon": blue-white-red turning of the fingers and/or toes
- Ulcerations of the fingertips (ulcers) or calcifications (storage of calcium salts in the tissue)
- due to skin fibrosis, symptoms such as a pointed nose, the so-called "tobacco pouch mouth", an obstruction of the mouth opening, sclerosis of the lingual frenulum as well as stiffening of the joints occur.
A distinction is made between a limited cutaneous and a diffuse cutaneous form of systemic sclerosis, depending on the pattern of skin involvement. In the limited cutaneous form, the skin of the face, hands, forearms, feet and lower legs is affected. As soon as the trunk, upper arms and thighs are also affected, the disease is called diffuse cutaneous.
The limited cutaneous form is associated with antibodies against centromeres, the diffuse cutaneous form with antibodies against topoisomerase I (SCL 70). This distinction is of prognostic relevance, because the frequency of certain organ involvement varies depending on the skin involvement. Ultimately, the diffuse cutaneous form of the disease leads more quickly to more severe organ involvement such as pulmonary fibrosis and is therefore somewhat less favorable. Therapeutically, depending on the severity of the disease and manifestation, ACE inhibitors, methotrexate, mycophenolate or cyclophosphamide are used; studies are currently underway on some biologics (tocilizumab, rituximab). In pulmonary arterial hypertension, endothelin antagonists and phosphodiesterase inhibitors (sildenafil, tadalafil) as well as prostaglandins are used; in digital ulcers, prostaglandins are administered intravenously. Ultima ratio in severe, refractory courses is high-dose chemotherapy with autologous stem cell support.
If systemic sclerosis is diagnosed, it is important to carry out control examinations or. To perform a regular standardized "propagation diagnostics. In this case, a lung function with diffusion capacity, an echocardiography, a 6-minute walk test are recommended at six-monthly intervals, if necessary. Depending on the findings, an HR CT (high resolution computed tomography) of the lungs may also be required. In the case of corresponding symptoms, an esophageal swallow and an esophagogastroduodenoscopy are also performed. The skin score (modified rodnan skin score) should be determined regularly, as well as regular blood pressure measurements (hypertension as an early sign of a renal crisis) and urine tests for new-onset proteinuria. If pulmonary arterial hypertension is suspected on echocardiography, further diagnosis by right heart catheterization should be performed. Recently, regular electrocardiography and long-term ekg have been recommended to detect cardiac involvement (block patterns, rhythm disturbances) at an early stage. Laboratory determination of NT-pro BNP and troponin is also helpful. Capillary microscopy is important both for early diagnosis and for estimating the prognosis of. The stage of systemic sclerosis is important, here an early pattern is distinguished from an active and a late pattern. Systemic sclerosis is frequently associated with malignancies such as breast carcinomas, bronchial carcinomas or plasmacytomas. In 2014, new classification criteria for systemic sclerosis were published:
CCriteria have also been established for the early diagnosis of systems sclerosis:
(VEDOSS, very early diagnosis of systemic sclerosis)
mixed collagenosis (M. Sharp)
Mixed collagenosis is a clinical mixture of the collagenoses systemic lupus erythematosus (SLE) and systemic sclerosis (ssc). An adequate treatment procedure is selected depending on the symptoms that occur.
dermatomyositis is characterized by typical skin changes ("heliotropic exanthema", "gottron’s papules"). Muscle pain or muscle weakness are rather rare. Myositis is detected by MRI imaging, and neurophysiological pathological potentials can be detected by electromyography. Biopsy for histological evidence of myositis should, if possible, be performed where pathological findings have been detected on imaging or electromyography.
unlike polymyositis, there are no specific autoantibodies in dermatomyositis. In polymyositis, the skin changes are missing, otherwise the clinical picture is very similar to dermatomyositis. However, in approx. 60% of cases specific autoantibodies also associated with certain organ involvement. For example, there are the so-called antisynthetase antibodies (jo1, mi2 etc.), in which, for example, lung involvement (alveolitis, fibrosis) or cardiac involvement are frequently present. Histologically, in some cases dermatomyositis can be distinguished from polymyositis, in dermatomyositis the inflammatory infiltrate is mainly located in the vascular-nerve bundle, in polymyositis between the muscle fibrils. The most essential differential diagnosis to these inflammatory myopathies is inclusion body myositis. This primarily affects distal muscle groups, begins rather insidiously and shows histologically or. Electron microscopic typical changes.
dermatomyositis is associated with malignancies in up to 30% of cases, polymyositis in up to 15%. Most common here are gynecologic tumors or bronchial carcinomas.
Therapy for poly- or dermatomyositis consists of glucocorticosteroids, combined with steroid-sparing immunosuppressants such as azathioprine or methotrexate. In refractory cases or cases with severe pulmonary or cardiac involvement, immunoglobulins or cyclophosphamide are also used; for refractory individual cases, positive experiences with rituximab are also available.
The following diagnostic criteria apply to inflammatory myopathies.
overlap syndromes ("overlap")
Overlap syndromes are when symptoms of two or more inflammatory rheumatic systemic diseases are diagnosed in you.
The U1RNP antibodies specific for mixed collagenosis are absent. The most common is the overlap between rheumatoid arthritis and SLE, and between sjogren’s syndrome and rheumatoid arthritis, respectively. Other collagenoses.