What are the symptoms?
An abnormal and temporary decrease in the size of blood vessels in fingers and/or toes triggered by exposure to cold or emotional stress is referred to as Raynaud’s phenomenon. The narrowing of blood vessels can cause a decrease in blood flow that manifests itself as a bluish discoloration of the skin and blanching of fingers and/or toes which may be associated with numbness. Raynaud’s phenomenon is present in over 95% of patients with scleroderma, but can also be seen outside of this disease. Because it can occur up to ten years before the development of other symptoms, experts regard it as a clinical sign that may allow for early detection of the disease. Raynaud usually affects both hands symmetrically but it can also affect the feet, nose, tongue and ears. It may be associated with digital ulcers or even gangrene.
Digital ulcers: collagen deposits affect primarily distal vessels, which promote the development of digital ulcers.
The hardening of the skin may limit the opening of the mouth (microstomia).
Painful ulcers (sores) can occur at the fingertips. The fingers can progressively become fixed in a bent or flexed position called a “contracture”. Arthritis (joint pain and swelling) and muscle weakness may also occur.
THE DIGESTIVE SYSTEM
Esophageal involvement can cause heartburn, regurgitation and difficulty swallowing. Involvement of the small intestine may cause an intestinal obstruction and reduce the ability to absorb food.
Involvement of the digestive system, particularly the esophagus (swallowing tube), occurs in nearly all SSc patients.
Gastroesophageal reflux is acid regurgitation in the esophagus that manifests itself by a burning sensation radiating up to the throat after meals. If left untreated, it may be further complicated by an inflammation of the esophagus and lead to a narrowing (stricture) which might then require esophageal dilatation. In rare cases, it may develop into cancer of the esophagus.
THE LUNGS AND ITS BLOOD VESSELS
An abnormal elevation of blood pressure in the pulmonary arteries, also known as pulmonary arterial hypertension (PAH), develops in about 10% of SSc patients. This is a serious complication that can lead to death if not treated appropriately. Although patients with pulmonary arterial hypertension are usually short of breath on exertion, screening for this condition is critical and should be done regularly even in absence of symptoms. This screening helps your doctor determine if your pulmonary condition requires treatment. Regular echocardiogram is recommended, — in most cases, yearly.
PAH is not the only kind of lung disease that may occur in SSc patients. Interstitial lung disease (ILD), also called pulmonary fibrosis (PF), is another serious complication. It manifests itself as shortness of breath or dry cough. To check for early signs of ILD, your physician might prescribe chest X-rays and pulmonary function tests.
The most severe complication affecting the kidneys, called scleroderma renal crisis (SRC), occurs in about 5% of SSc patients. It manifests itself as an increase in blood pressure. This may be accompanied by shortness of breath, headaches, visual changes or an altered state of consciousness. Patients experiencing this complication usually require temporary, or even sometimes, permanent dialysis. It should be noted that those who take cortisone (Prednisone) or have diffuse skin involvement are at greater risk of developing SRC.
Cardiac manifestations are of two kinds: resulting either directly from scleroderma or, indirectly, by lung involvement or due to severe hypertension. Generally, the patient will seek a consultation because he/she experiences shortness of breath or unusual tiredness.
Some patients may lose a significant amount of weight, while others will experience a persistent pruritus (itchy skin). Fatigue and decreased ability to carry out daily activities are pervasive. Scleroderma is a major cause of physical and moral suffering and reduced quality of life.
Since each case is unique, no two patients will follow the same course of the disease.
Main symptoms reported by patients
In a recent study, a list of 69 symptoms was submitted to patients to assess their frequency and severity. The five most frequently self-reported symptoms were fatigue, Raynaud’s phenomenon, stiffness in the hands, joint pain and difficulty in making a fist.
As for their impact, again fatigue, difficulty sleeping, joint pain, difficulty concentrating and difficulty in forming a fist were mentioned. (Taillefer et al., 2010).