Scleroderma: Symptoms, Diagnosis and Treatment

Scleroderma or systemic sclerosis is a disease in which the skin, blood vessels, and multiple other organs are affected by excessive fibrosis. This is an autoimmune disease, in which the body’s immune system attacks itself. Systemic sclerosis is relatively rare with 9-19 new cases per million annually. Women are affected more than men.

Classification of Scleroderma

Scleroderma is distinguished into two major forms based on the extent of disease involvement as:

Diffuse cutaneous systemic sclerosis: This involves the skin along with the muscles, joints, lungs, kidneys, and gastrointestinal tract. This form occurs earlier, is more severe, and progresses rapidly.

Limited cutaneous systemic sclerosis: This is a milder form generally limited to the skin, with occasional involvement of other organs. This form presents later and progresses slowly with lesser morbidity.

Symptoms of Scleroderma

Thickening of the skin: this is seen first over the hands and legs, then the body and face as well. Along with thickening, there is the loss of hair and sweat glands noted
Facial skin thickening: this causes the face to lose expressions. It becomes difficult to open the mouth and the nose appears bird-like.
Ulcers over fingers and toes: fibrosis around blood vessels can decrease blood supply to the fingers
Shortness of breath: this occurs from the involvement of the lungs due to fibrosis of the lung tissue.
Joint pains and stiffness.
Kidney involvement with rapid kidney injury and failure called scleroderma renal crisis.
Heartburn and difficulty swallowing: The esophagus becomes stiff with reflux of stomach contents upwards. There is also the poor movement of the esophagus to push food down.
Raynaud Phenomenon: this is a condition with color changes in the fingers on exposure to cold temperatures in response to constriction of blood vessels. The classic color changes are from white to blue to red, associated with pain.

The Limited cutaneous systemic sclerosis is associated with a syndrome called CREST, which is an acronym for its symptoms:

C-Calcinosis: calcium deposits in the hands, feet, and over bony prominences
R-Raynaud phenomenon: described above
E-Esophageal dysmotility: this causes the acid reflux and difficulty swallowing, described above
S-Sclerodactyly: this refers to the skin thickening noted over the fingers
T-telangiectasia: These are small dilated blood vessels which can be found in the skin

Diagnosis of Scleroderma

The following are done to evaluate scleroderma:

History and clinical exam: the symptoms, onset, and progress is asked for along with a careful physical exam of the entire body
Blood tests are done to look for specific antibodies that can help confirm the diagnosis and also distinguish between the two types of scleroderma. The following antibodies are commonly tested for
Antinuclear antibodies (ANA): these are present in almost all patients with scleroderma
Anti topoisomerase I: this is specific for the diffuse variant
Anti centromere: this is specific for the limited variant
Skin biopsy: A full-thickness biopsy of the skin can aid in confirming the diagnosis
Imaging of the chest: Chest x-ray and CT of the chest may be required to look for lung involvement
Renal function tests and urine studies to look for kidney involvement
Upper gastrointestinal endoscopy: A tube is inserted through the mouth and inserted all the way into the stomach and upper intestine to look for fibrosis and movement problems in the oesophagus.

Treatment of Scleroderma

There is currently no effective therapy to successfully stop and reverse the disease. There are, however, many options to help relieve symptoms and delay the progression

Immunosuppressive medications: These drugs act to reduce the immune system’s effectiveness against the body. The drugs have many side effects and can be used in combination with monitoring by specialists in treating scleroderma. The ones most frequently used in scleroderma are cyclophosphamide, methotrexate, mycophenolate mofetil.
Steroids can be used in initial stages but are generally avoided as these do not change the course of the disease.
Non-steroidal anti-inflammatory drugs (NSAIDS): these help against joint pains
Drugs to decrease fibrosis: Newer drugs are being developed which decreases systemic fibrosis. These are still under trial
Vessel dilators to treat Raynaud phenomenon: calcium channel blockers like nifedipine are useful
Proton pump inhibitors such as pantoprazole to decrease reflux symptoms
Skincare: the use of hydrating agents, oils, and massage is beneficial. Ulcers are to be dressed and local antibiotics may be needed to prevent and treat infections

Complications of Scleroderma

Progression of the disease can involve various organs leading the life-threatening conditions.

Pulmonary arterial hypertension: this occurs due to vessel abnormalities in the lungs and can lead to heart failure and death
Scleroderma Renal crisis: This occurs in the diffuse variant with a rapid decline in kidney function and previously had 100% mortality. Currently, this is managed with ACE inhibitors such as captopril

Prognosis of Scleroderma

The disease can be controlled to some extent using immunosuppressive medications, but all patients ultimately progress with the speed of progression varying in individuals. The diffuse variant progresses faster with higher rates of death from complications. Individuals with a limited type may have a normal life span and die from other causes.

References:

Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population. Arthritis Rheum. 2003 Aug;48(8):2246–55.
John Varga, Systemic Sclerosis (Scleroderma) and related disorders, Harrison’s Principles of Internal Medicine, 19th Edition, 2015
Scleroderma | Genetic and Rare Diseases Information Centre (GARD) – an NCATS Program [Internet]. [cited 2018 May 27]. Available from: https://rarediseases.info.nih.gov/diseases/10308/scleroderma