Systemic Sclerosis 

I have finished my Care of the Elderly placement and have switched over to Respiratory Medicine- the elderly can now breath easy. (Excuse the poor attempt at a pun. Don’t hold your breath for a better one). (Sorry, they come as easily as breathing to me). (I’m considering giving up medicine for comedy.)

My aim of this placement is to get good at chest x-rays, because at the moment, I just look at an x-ray and my impressions consist of two words: white and black, and various adjectives such as fuzzy. Fuzzy white at the top of the lung, lots of black, too much white…

On the ward round, we saw a patient with pulmonary fibrosis secondary to scleroderma. She is in a poor state and relatively young. She gets repeated chest infections and has poor lung function and would ideally benefit from a lung transplant. The problem is that she has oesophageal reflux and dysfunction which would be damaging to the transplant as she aspirates the oesophageal reflux.

I performed a respiratory exam on this lady and noticed the following signs:

Clubbing, tapered fingers, vitiligo

Microstomia, beaked nose, fixed expression

Bibasal coarse crackles in both lung bases

Her skin was probably hard but it was difficult to tell in my attractive blue gloves.


Systemic Sclerosis 

Definition: Systemic sclerosis (scleroderma) is a rare chronic multisystem autoimmune connective tissue disease which is characterized by widespread small blood vessel damage and fibrosis in skin and internal organs.

There is thickening of vascular walls with lumen narrowing and connective tissue proliferation.

Aetiology/risk factors: Aetiology unknown

Epidemiology: 3-5 x more common in females, age of presentation is 30-50 years. Annual incidence in 1 in 10 000 (UK).

 

Systemic sclerosis/ scleroderma can be classified as either Limited Cutaneous Scleroderma (60% of cases) or Diffuse Cutaneous Scleroderma (40% of cases).

Symptoms:

-Dysphagia and heartburn– there is oesophageal involvement in >90% of patients. Lower oesophageal sphincter pressure is reduced allowing reflux, and there is stricture formation, causing dysphagia, as the smooth muscle layer is replaced by fibrous tissue.

Painful extremities– due to Raynaud’s phenomenon

-Symptoms of organ involvement in diffuse cutaneous scleroderma e.g. SOBOE with pulmonary fibrosis

Signs: 

Image result for sclerodactylyRaynaud’s phenomenon– this is the initial manifestation. Followed by cutaneous manifestations. (Intermittent spasm in the arteries supplying the fingers and toes = pallor → cyanosis → redness)

Cutaneous manifestations– skin changes develop more rapidly after the development of Raynaud’s phenomenon and are more widespread in diffuse cutaneous scleroderma than in limited cutaneous scleroderma.

Image result for face scleroderma-Skin is thickened, bound down to underlying structures

-Fingers taper = sclerodactyly

-Changes in skin pigmentation & ulcers in fingers

-Skin changes limited to hands, face, feet & forearms in limited cutaneous scleroderma. There is truncal involvement in diffuse scleroderma.

– Characteristic facial appearance: beaked nose, fixed expression, radial furrowing around mouth (puckered lips), limitation of mouth movements, microstomia (small mouth)

Telangiectasia

Calcinosis– palpable sub-cutaneous nodules of calcium deposits in fingers

-Nail fold capillary dilation, tendon friction rub, joint contractures (diffuse scleroderma)

-Limited cutaneous scleroderma was previously known as CREST syndrome, after the main features: Calcinosis, Raynaud’s, Esophageal involvement, Sclerodactyly and Telangiectasia (i.e. a ready made mnemonic. They should name all diseases like this!)

Image result for sclerodactyly

 

Complications:

-In diffuse cutaneous scleroderma, the skin changes are more widespread than in limited cutaneous scleroderma. There is also early involvement of other organs:

 

Small intestine- dilation and atony with bacterial overgrowth

Watermelon stomach- Gastric Antral Vascular Ectasia (GAVE) — lining of the stomach bleeds = characteristic stripes of a watermelon when viewed by endoscope, Gastric paresis (nausea, vomiting, anorexia), colonic hypomotolity (constipation) etc.

Pulmonary fibrosis and pulmonary vascular disease → pulmonary hypertension (common- 2nd only to oesophageal involvement, major cause of death)

-Abrupt onset hypertension and acute renal failure- hypertensive renal crisis (10-15% of patients)

Chronic renal failure

-Trigeminal neuralgia, muscular wasting or weakness

-Systemic and pulmonary hypertension →  cardiac disease (e.g. cor pulmonale)

Pericarditis, pericardial effusion, myocarditis, myocardial fibrosis, heart failure, arrhythmias

Investigations:

-Diagnosis is primarily based upon the presence of characteristic skin changes.

-Full blood count- normochromic, normocytic anaemia

-Serum antibodies- antinuclear antibodies are often +ve (anti-topoisomerase 1 & anti-RNA polymerase I & III = highly specific for diffuse cutaneous scleroderma. Anti-centromere antibodies = limited cutaneous scleroderma)

-X-ray- calcinosis in fingers, may show erosion and resorption of the tufts of the distal phalanges. Barium swallow shows impaired oesophageal motility. High resolution CT shows lung fibrosis.

-Oesophageal manometry (pressure sensitive tube down oesophagus)- failure of peristalsis in distal oesophagus, reduced oesophageal sphincter pressure.

-Nail-fold capillary ophthalmoscopy or microscopy: detect fine nail-fold changes

-Other investigations for complications such as ECG, echo, endoscopy etc.

 

-Management is symptomatic. There is no specific treatment.

-10 year survival- Limited (70%) and diffuse (55%) cutaneous scleroderma

 

 

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