Systemic Sclerosis 4.59/5 (17)

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Puffy hands in systemic sclerosis

Early stage systemic sclerosis: Puffy hands and Raynaud's phenomenon are common. Russo RA, https: // openi. CC BY 2.0

Definition of systemic sclerosis / systemic scleroderma

Systemic sclerosis (systemic scleroderma) is one Rheumatic connective tissue disease where the body's immune system mistakenly attacks its own organs (Autoimmune disease). Typically, the skin is attacked. Internal organs (stomach and intestines, lungs, heart and kidneys) affect many, but in different ways and with varying degrees of severity.

Systemic sclerosis differs from person to person despite the same diagnosis. Some have few symptoms and a normal life span, while the prognosis is severe in others. Further examinations and assessment by a specialist in rheumatic diseases (rheumatologist) can show if there are special risk factors

Disease Causes

In most cases, the cause of systemic sclerosis cannot be demonstrated. In rare cases, the disease is linked to the use of certain drugs and drugs:

  • Taxans (cell toxins like Avastin against cancer)
  • Pentazocin (severe pain reliever)
  • Cocaine (drug)

Other substances may be important in some cases

Occurrence

Systemic sclerosis is rare. It can begin at any age, among youth, women and men, but very rarely in young children. Most are women 30-60 years old. Usually is limited form which is the least serious. It the diffuse form most often begin among relatively young, while the restricted form is more common at slightly older ages.

A Norwegian study from Revmatological Department, OUS Rikshospitalet showed that systemic sclerosis occurs in 10 persons among 100.000 residents (prevalence about 500 in Norway), and about 35 becomes sick annually (incidence) in Norway (reference: Hoffmann-Vold AM 2012). Systemic sclerosis is thus defined as one rare disease.

Symptoms

Raynaud's phenomenon

The disease is characterized by the fact that everyone has "lips" (Raynaud's phenomenon). The symptoms include episodes of convulsions in the fingers of the veins that cause fingers to become white, cold, numb, blue and often red. Those who have this know what is meant. Raynaud's phenomenon usually occurs from months to several years before systemic sclerosis starts in the skin of the fingers.

  • Raynaud's phenomena occurring in adulthood should be considered more closely to exclude other signs of systemic sclerosis or other underlying disease. Please read more about Raynaud's phenomenon here

"Puffy hands" / "Puffy fingers"

These are rigid, swollen hands and fingers that are an early symptom. Puffy hands / puffy fingers usually occur by Raynaud's phenomenon, but before the skin becomes taut

Sklerodaktyi

  • Sklerodaktyi means hard fingers. The skin of the fingers becomes smooth and tight. Then, skin on the arms, legs and other parts of the body can be attacked. Most have the limited shape that often only includes fingers, hands and the mouth area. Early changes in the smallest blood vessels (capillaries) can be seen by capillaroscopy
  • Itching is a symptom in some people, most often by the diffuse form
  • Fatigue / exhaustion with increased need for sleep is not uncommon
  • Later in the course of the disease, dryness in the mouth and eyes is common. The symptoms can then remind (secondary) Sjögren's syndrome

Clinical findings at medical examination

"Fingers" / Raynaud's phenomenon may be visible during the examination. The affected skin may appear swollen and warm in an early stage of the disease. After months or years, the skin becomes smooth, thickened and tight. The fingers are always attacked. Gastric acid reflux to the esophagus (reflux) is common and should be treated with drugs. Lungs can be attacked (symptoms: irritation cough, heavy breathing at load). Also, kidneys (symptoms: "fluid accumulation in the feet", high blood pressure), and the heart may be weakened. The cause of the disease is unknown. Women are attacked somewhat more frequently than men (3: 1).

Systemic sclerosis / systemic, scleroderma is divided into different types (see below). The limited cutaneous systemic sclerosis is most common (prevalence: 7 / 100.000). Common to both main forms is:

Raynaud's phenotype scleroderma

Raynaud's phenomenon almost always occurs with systemic sclerosis. Photo from Wikimedia Commons.  CC BY SA 3.0

Capillaroscopy (nail fold)

In capillary syndrome, one can detect signs of small blood vessels as early signs of systemic sclerosis and some other diseases

Limited form of systemic sclerosis (limited cutaneous systemic sclerosis)

Systemic sclerosis: Teliactomy on fingers. Meireles SI 2014. Openi. CC BY NC 3.0

Approximately 70XNX% with systemic sclerosis is of limited form

The limited form of systemic sclerosis is also called "CREST" syndrome that stands for Calcinose, Raynauds, Esophagus Sclerodactyly and Teleangiektasia)

This limited form of systemic sclerosis usually develops slowly

  • Typical is that Raynaud's phenomenonoccurrs several years before the fingers get swollen, thickened with smooth skin

Skin changes on fingers, hands and in some cases on the forearms and legs, but never on the upper arms, thighs, belly, chest or back

  • Often tight skin also around the mouth
  • "Telangiectasia”(Thin veins or red dots on the skin or on lips) is common (please see photo above). Teliactomy in the skin is harmless
  • Some get calcinosis under the skin (Calcinosis), most often on the fingers. Calciumosis is unpleasant but not dangerous

Most are afflicted with "acid regurgitation" of gastric acid and should use an acid production inhibitor (e.g. Somac tablets) to prevent etching in the esophagus and strong stomach acid that can even damage the lungs

About 70-75% with this limited form of systemic sclerosis has changes in blood tests (positive tests) called CENP or anti-centromer Antibodies

  • CENP / anti-centromere is a subset of the ANA antibody that may be useful when diagnosing, but not everyone with CENP in the blood gets systemic sclerosis

The limited form of systemic sclerosis is often without serious complications, but some may over time experience symptoms from the lungs, heart and stomach / intestine. About 15% get symptoms of reduced lung function in the course of the disease. If the lungs are normal at diagnosis, it is a good prognostic sign

Diffuse form of systemic sclerosis

Diffuse type accounts for approximately 20% of cases with systemic sclerosis

The skin becomes hard and stiff the most on the fingers, but also on the body such as upper and lower arms, thighs, abdomen, chest, back and face, including forehead. The symptoms often develop during 1-3 years, but the course is variable (individual)

  • After a few years of exacerbation, many experience that the skin becomes much softer and better
  • In the most active stage of the disease, some people are suffering from severe itching of the skin

The kidneys can be attacked, especially the first two years from the onset of the disease. It can develop ”kidney / renal crisis"With very high blood pressure and fear of kidney failure.

  • Symptoms of kidney crisis are severe headaches, high blood pressure and edema enter the legs during inflammation of the kidneys. Symptoms may initially be difficult to interpret, and urine specimens and blood pressure measurements are important studies. Early treatment with ACE inhibitors is important to prevent permanent damage

The stomach can begin to bleed into the mucous membrane. Some people notice pain in the diaphragm. Low hemoglobin (blood percentage) can be measured in blood samples.

  • Gastroscopy is so-called watermelon stomach, GAVE. Treatment is usually effective with argon laser coagulation via an experienced specialist in gastric and intestinal disorders. Several treatments over time are most often needed for a lasting good result

The lungs can be attacked (coughing, heavy breathing at load), which may indicate the need for treatment with immunosuppressive drugs

In blood samples are detected Antibodies in the form of ANA and anti Sc1-70 (anti-topoisomerase) in ca. 35%. RNA polymerase III antibody occurs in ca. 25% and increase the risk of kidney complications

Scleroderma myositis

Most often occurs in milder forms with only slightly elevated creatine kinase (CK) in the blood sample

Scleroderma sine (without) scleroderma

Scleroderma sine scleroderma lacks the typical skin changes but is otherwise like systemic sclerosis

  • Consider about 5% of all with systemic sclerosis
  • Most often an early form that can be divided into limited or diffuse type later in the course

Children with systemic sclerosis (Juvenile Systemic Sclerosis)

Classification criteria

Disease Activity Score

The artist Paul Klee received systemic scleroderma. 1940, 60 years old

Senecio by Paul Klee

Treatment of Complications

Skin

Treatment of skin changes has shown that a slight improvement is achieved if treatment starts early. For comparison, exacerbation is expected without treatment (reference: Hennrick AL, 2017). The treatment goal is to stop worsening. One measures "Rodnan skin score" before treatment and in the follow-up

  • Tight and hard skin (scleroderma)
  • Calcium accumulation (calcinosis) under the skin and tight skin
    • There are no effective medications, but moisturizer may be useful
    • Wound cream against bacteria (for example Brulidine) can be used against infection
    • Large amounts of calcium can be removed surgically, but often return quickly
Systemic sclerosis

Systemic sclerosis with fingertip ulcers. Aghaei N, 2012. CC BY NC SA 3.0

Ulcers on fingertips (digital ulcer and necroses / "black fingers")

Also on elbows and knees

  • Moisturizing cream can prevent wounds
  • Cream for wound infections (for example Brulidine) can be used
  • Bosentan (“Accord”) is an endothelin receptor antagonist (ERA) that can be prescribed on an H-prescription. Tracleer is significantly more expensive (as of 2019)
  • Sildenafil (Orisild / Revatio) is a PDE 5 inhibitor that can be prescribed on an H prescription. Orisil “Orion” is (as of 2019) considerably more reasonable than Revatio
  • Ilomedin infusions
  • Botulinum toxin (Botox syringes)
  • Other (uncertain effect)
    • Statins (cholesterol lowering drugs)
    • Albyl-E
    • Low-molecular Heparin (Fragmin)
  • Telangiectasia (see below)
    • Cosmetic laser treatment (dermatologist) may be relevant

Lungs

Checked by CT examinations, 6 minute walking test and lung function measurements

Treatment appropriate if

  • The manifestation on HRCT is 20% or more and increasing
  • Lung function measurements show that FVC is reduced by more than 10% or DLCO more than 15% from earlier
  • The treatment goal is to stop worsening

Reports suggest that Biological treatment (tocilizumab, rituximab) may also have effect, but good (controlled) studies are still lacking (references; Narvaez, X, Asano Y, 2017)

Heart

Pulmonary hypertension

The heart should be examined regularly ultrasonic Doppler (cardiologist) to exclude increased pressure in pulmonary arteries (Pulmonary hypertension) which is detected at approx. 5%. If pulmonary hypertension is suspected, supplementary measurements are made with a heart catheter (right side heart catheter)

  • The area of ​​the right atrium and the rate of any backflow over the tricuspid flap are factors that are measured and included in the DETECT calculator. This is recorded along with lung function (FVC, DLCO), Teleage infections, CENP antibody NT-proBNP and serum urate (please see below)

Medications for pulmonary hypertension are the endothelin receptor antagonists Bosentan (“Accord”) / Tracleer, Volibris (ambrisentan) and Opsumit (macitentan). Volibris is less expensive than Opsumit, but should not be used if pulmonary fibrosis is present (Opsumit is preferred). PDE 5 inhibits Orisild / Revatio may be alternatives. Bosentan, Volibris, Opsumit and Orisild (sildenafil) are written on H-prescription and is covered by the health enterprise.

DETECT calculator (indication for right-hearted catheter examination?)

myocardiac

Myocardial fibrosis is flushed that connective tissue replaces normal heart tissue (reference: Espeland T, 2018). Studies show increased incidence of myocardial fibrosis in systemic sclerosis.

Probably the incidence is related to the extent of the disease in the individual. Myocardial fibrosis is not routinely investigated, but can be detected by cardiac MRI examination in 45% (references: Rodriguez-Reyna TS, 2015, Ramalho AR, 2017, Ntusi NA, 2014).

Myocardial fibrosis can cause heart failure, first in the form of diastolic dysfunction which can be demonstrated by ultrasound Doppler of the heart (reference Smiseth OA, 2019). Treatment of myocardial fibrosis is aimed at symptoms such as heart failure or dysrhythmia. It is debated whether drugs that dilate blood vessels (vasodilators: calcium blockers, ACE inhibitors and angitensin II receptor blockers) and acetylsalicylic acid (ASA / Albyl-E) should be recommended preventively (reference: Valentini G, 2019). However, the drugs can cause side effects. To find the best treatment methods, more research studies are needed in this area (reference: Varga J, 2019)

Kidneys

Gastrointestinal disorders

Acid reflux is treated with tablets (proton pump inhibitors, for example Somac tablets)

Muscle inflammation (myositis) by systemic sclerosis (Sklero-myocitis)

Caution with prednisolone for treatment because prednisolone doses above 10-15mg / day may trigger kidney complication / kidney crisis

Dryness of the eyes and mouth

Eye drops ("artificial tear fluid", e.g. Viscotears) and good oral hygiene are important. Refund of necessary dental treatment may be relevant

Eye symptoms of systemic sclerosis

Autologous stem cell treatment

Serious disease course in the diffuse form of systemic sclerosis (please see above) can be treated with "bone marrow transplant" (autologous stem cell treatment, HMAS). The treatment has significant side effects and risks, so it is out of the question for a few

Incorrect diagnosis? (Similar diseases / differential diagnoses)

Rheumatology department of Oslo University Hospital

In Oslo follows Rheumatology Department, OUS a large group of patients with systemic sclerosis. The department offers examinations of the skin, lungs, heart, esophagus, kidneys and follow up when needed. The department also offers inclusion in the register NOSVAR used for research (PhD / PhD work / post-doc). More than 600 patients with systemic sclerosis have been registered in NOSVAR in recent years. The department has published more than 40 research studies on systemic sclerosis in international journals in recent years. The rheumatic department always wants to look after the patients and the research through the best possible collaboration with the GPs, the other rheumatic departments in Norway and foreign partners.

Medical prognosis

The course of the disease is very individual. For the individual, it is therefore not useful to note average values ​​or horror stories referred to on the Internet or in literature (The Snowman by Jo Nesbø). The rheumatologist who follows up on the individual patient will over time be able to assess the prognosis based on individual data and the course of the disease. In general, one can say that the severity depends on whether internal organs are attacked and whether the treatment response is good.

Pregnancy and systemic sclerosis

The disease can debut randomly and develop during a pregnancy and just after a birth.

  • The course of pregnancy depends on whether the internal organs are heavily attacked and which drugs are used.
  • The most prone to complications is the diffuse form of systemic sclerosis that can develop rapidly and have the most severe prognosis
  • Studies have shown an increased incidence of complications preeclampsia (intoxication) and premature births

Before pregnancy is planned, the heart, lungs, kidneys and other organs should be medically examined. Complications may still occur during pregnancy.

Diet by Systemic sclerosis (scleroderma), food, meals

A scleroderma diet does not exist. Nevertheless, proper diet by systemic sclerosis is important since the disease in almost all cases attacks the esophagus and gastrointestinal tract. The most common is acid reflux from the stomach. Some of the stomach acid can get into the lungs where lung damage gradually occurs without any special symptoms initially. Plus Acid-reducing drugs (Somac, Nexium), diet and eating habits are important. Small, frequent meals reduce acid reflux. Do not eat last 2-3 hours before bedtime. Avoid foods that increase the acid symptoms (citrus fruits, coffee, onions, garlic) or increase the amount of gas in the stomach (raw beans, broccoli, raw onions). Lie with your upper body slightly higher.

In systemic sclerosis, the esophagus has reduced function in most people. To avoid food getting stuck, it is important to chew the food well, avoid large food bits and drinks for meals. Eat slowly.

Some people with systemic sclerosis also have large intestinal problems that lead to reduced nutritional intake. Typical symptoms are altered bowel movements (loose, malodorous, frequent), weight loss, fatigue and low protein levels (albumin) in the blood. Often also iron, vitamins and other trace elements are missing. Supply of protein-rich energy drinks and small but frequent meals (every 2 hrs for malnutrition, otherwise every 3-4 hour), vitamin and mineral intake is recommended. Meals may consist of fruit, yogurt, fatty fish, peanut butter, pasta, eggs and chicken. Avoid a lot of sugar. Regular medical check-ups with blood samples to measure albumin, iron, folic acid, B12, other vitamins, salts and trace elements are recommended. More about energy and nutrients here (Norwegian Directorate of Health)

Patient information

Rheumatic department OUS Rikshospitalet arranges information courses for patients and relatives (check here). Individual information from a nurse may also be agreed. Information from the Nurse is also available here.

Guidelines, criteria and various links here (EMEUNET)

Tips for medical examinations, referral to specialist and journal writing in systemic sclerosis

Large Medical Encyclopedia

Literature


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