Scleroderma (Systemic Sclerosis)

The word Scleroderma means hard skin (Sclero = hard and derma = skin).

This is a rheumatic disease characterized by thickening of the skin either in one area of the body called Localized Scleroderma or thickening of the skin along with affection of the internal organs in which case it is called Systemic Sclerosis.

This disease like many others affects women more than men usually between 20 and 40 years of age. Let us address the Systemic Sclerosis first as this has larger ramifications in terms of the life span and quality of life of an individual.

This disease is characterized bythickening, tightening of the skin along with darkening resulting from deposition of a substance called collagen in the skin and other organs.

Once again the systemic sclerosis can be of two types: a) Limited Cutaneous(lcSSc) b) Diffuse Cutaneous (dcSSc).

This classification is mainly based on the area of skin involvement. In the limited variety a relatively lesser area of skin is involved whereas in the diffuse variety the entire body is involved.

a) Limited Cutaneous: In the limited form the skin affection is restricted to the face and the peripheral parts of the body such as the upper limbs up to the forearms and legs up to the knees and spares the trunk.

b) Diffuse Cutaneous: Here the skin is extensively involved hardly sparing any area of the body including the trunk. This is a relatively aggressive disease with maximal affection within the first 3 years itself after which the disease begins to plateau gradually. However by this time, damage to the internal organs has already occurred.

Features:

1) Raynaud’s Phenomenon: This is one of the initial feature. If there is no Raynaud’s then the diagnosis is extremely unlikely. Raynaud’s phenomenon is characterized by cold extremities and bluish or white discoloration of the fingers and toes on cold exposure. This is due to narrowing of the blood vessels. Over time ulcers develop over the fingertips due to lack of adequate blood supply to the finger and toe tips.

2) Skinthickening: At first the skin may feel “edematous” meaning swollen. It is quite rare to catch patients at this stage of the disease. Soon the skin begins to harden and become inelastic with adherent to the underlying tissues called the subcutaneous tissue (sub = under and cutaneous = related to skin).

3) Sclerodactyly: (Sclero = hard and dactyly = related to fingers and toes). This happens in all cases whether diffuse or limited variety. You will find that the fingers beyond the knuckles are shiny and smooth. One cannot pinch up the skin as if it is stuck to the bone underneath.

4) Calcinosis: One gets deposits of calcium under the skin and muscles. These deposits are hard and often quite tender. These can result in recurrent painful ulcers in the skin as well.

5) Telangiectasia: These are seen as red spots on the skin. Quite often these are more prominent after the skin has become thin and soft after years of disease. These signify dilated capillaries and can occur in the organs as well such as the walls of the intestines and they can lead to gradual oozing causing chronic blood loss.

6) Gastro-esophagealdys Function: Every patient will sooner or later manifest symptoms of dysfunction of the gastrointestinal tract. Of these the most common symptom is GERD (GERD = Gastro-esophageal reflux disease; Gastro= stomach and esophageal = esophagus or food pipe). This occurs due to affection of the esophagus by the disease process leading to loss of normal movement of the esophagus or food pipe called Esophageal Dysmotility. Sometimes the entire Gastrointestinal tract is affected causing bloating, nausea, vomiting, early satiety, Diarrhea, malnutrition.

7) Arthralgia and Arthritis: Joint Pains with swelling and stiffness of the joints can occur in this disease as well, although the usual symptom in most patients is restricted movement due to tightness of the skin, muscles and tissues.

8) Lung Involvement: Lungs are common targets of affection. They can also lose their elasticity and become hard similar to hardening of the skin resulting in decreased oxygenation. Sometimes the Interstitium of the lungs (the lung tissue connecting the Air-cells) can be affected and inflamed leading to a condition called ILD or Interstitial lung disease which is the major cause of decreased oxygenation in the lungs. If and when this occurs aggressive treatment becomes imperative as this will otherwise result in irreversible lung damage which is a major cause of increased mortality in patients.

9) Cardiac Involvement: Symptoms of breathlessness on exertion should also raise suspicion of cardiac affection, even more so if the patient complains of palpitation. Chest pain is usually not a common symptom, though it can occur at times. Hence don’t wait for chest pain to consult your rheumatologist.

10) Kidney Involvement: Kidney involvement is an extremely dangerous and life threatening complication. The blood pressure suddenly shoots up to very high levels and kidney failure. This is called “Scleroderma renal crises”. The sudden rise in blood pressure results in damage to other organs as well as increased mortality and mandates immediate hospitalization. Scleroderma renal crisis seems to occur more often in the western countries with lung involvement being more common in India although this not always a rule and we have seen renal crises here as well.The reason for this geographical difference is not well known.

Diagnosing Scleroderma (Systemic Sclerosis):

As with most Rheumatic diseases, the diagnosis is a clinical one and there are no magic tests that one can perform to arrive at the diagnosis. However once diagnosed by your rheumatologist you will need multiple tests to assess degree of organ involvement by the disease. Tests vary from simple blood tests and urine tests to monitor your kidneys all the way to CT scans of the chest, Lung Function tests (called pulmonary function tests or PFT), 2 D Echo for cardiac monitoring etc. Thereafter tests will be required on a periodic basis while on treatment to monitor the disease progression in order to modify the treatment.

Treatment of Scleroderma (Systemic Sclerosis):

The skin involvement per se does not have any effective treatment so far and recommendations given by your doctor are purely empirical and even experimental in certain situations. However since this disease affects women more than men,for whom appearance is important, this is the major cause for concern to patients and also their families particularly in the case of young unmarried women.

However from the doctor’s view point, it is the affection of the various organs by the disease process that is very important because this is what will decide the prognosis of the patient. There are various treatments available which help in controlling the disease process or at least retard the disease progression in the internal organs and thus improve quality of life and also help increase the life span.

1) Raynaud’s Phenomenon:
a) Cold protection is of vital importance. Using warm gloves, mittens, socks, Scarfs, monkey caps etc. in the winter. Whilst sitting in Air-conditioned rooms gloves and woolen socks are important. b) Ulcers at finger tips are to be treated immediately with antibiotic creams to avoid infections.
c) NO smoking: Smoking causes narrowing of the blood vessels. Additionally considering that scleroderma affects the lungs it would be stupid to smoke.
d) Medications to dilate the blood vessels and promote circulation would be prescribed by the rheumatologist.

2) Skin:
a) Avoid Hot water baths as this will dry the skin further. use only warm water and moisturizers thereafter
b) Use sunscreens c) Use rubber gloves when washing vessels as their soaps contain harsh chemicals.

3) Gastrointestinal involvement:
a) Eat small frequent meals.
b) Eat early at night.
c) Stay upright for 2-3 hours after a meal. Do not lie down or sleep soon after a meal.
d) Medications to improve intestinal motility and to prevent reflux will be prescribed.

4) Lung affection: Since this is an autoimmune disease causing inflammation in the lungs certain Immunosuppressive drugs such as Azathioprine, Mycophenolate Mofetil and Cyclophosphamide etc. may need to be used under strict supervision by your rheumatologist. In many cases the lung disease has results in back pressure in the blood vessels of the lung resulting in increased pulmonary artery pressure called Pulmonary Hypertension (PH). In such cases Vasodilator drugs and certain special drugs called Anti endothelin- receptor antagonists may need to be used. Few examples of such drugs are Sildenafil, Tadalfil, Bosentan, Ambisentran etc.

5) Kidney Involvement : One cannot take any measures to prevent this from happening but regular monitoring of blood pressure is a simple tool which any patient can adopt. Should it be high call your rheumatologist immediately. You may require immediate hospitalization and will need to be put on a particular class of antihypertensive drugs called ACE inhibitors immediately which can be lifesaving in this situation.

Localized Scleroderma: This disease is usually restricted to skin involvement and does not affect the internal organs. Hence the prognosis in these conditions is usually good. This is of two varieties a) Morphea b) Linear Prognosis: There is no threat to life in Localized Scleroderma. Life expectancy in Sytemic sclerosis depends on the extent of internal organ involvement. As mentioned earlier Scleroderma renal crisis is a medical emergency and is associated with a high mortality if treatment is not initiated immediately. Cardiac affection can be fatal. Similarly lung involvement and pulmonary hypertension adversely affect the quality of life and are responsible for shortening of life span. Hence initiating treatment in time is crucial in this illness as is in many others.