Systemic sclerosis and breathlessness: which pressure is rising?

Over eight months she has become breathless walking uphill and now pauses after one flight of stairs. During the last month she has had light-headedness when hurrying but no loss of consciousness. There is no breathlessness at rest, chest pain today, haemoptysis or acute pleuritic pain.

She has noticed mild evening ankle swelling. Ask specifically about exertional presyncope or syncope, rapid deterioration, chest pain and resting symptoms: these alter urgency and should not be buried beneath a routine rheumatology review.

She has a dry cough but no fever, purulent sputum, wheeze or recent infection. She sleeps on one pillow and denies paroxysmal nocturnal dyspnoea. No previous venous thromboembolism, recent immobilisation or known congenital heart disease.

She snores occasionally without witnessed apnoea. She has never smoked. Do not treat these negatives as exclusions: ILD progression, left-heart disease, anaemia, deconditioning, infection and chronic thromboembolic disease remain part of a structured differential until investigated.

Raynaud phenomenon began 11 years ago; limited skin thickening and telangiectasia were diagnosed eight years ago. She has gastro-oesophageal reflux controlled with a proton-pump inhibitor and previous digital ulcers, but no known renal crisis, inflammatory myopathy or established cardiac disease.

Her annual assessment was missed last year while caring for her father. The most recent pulmonary function tests, 18 months ago, showed FVC 88% predicted and DLCO 58% predicted. She remembers being told that the lung volumes were reassuring and assumes this excluded serious lung disease.

Amlodipine, omeprazole and intermittent sildenafil prescribed for severe Raynaud symptoms by the specialist team. No anticoagulant, diuretic or immunosuppressant. No recent medication change. Ask about adherence, adverse effects, over-the-counter medicines and pregnancy potential where relevant before discussing future therapy.

She teaches primary school and has stopped playground duty. Her sister developed complications after an angiogram, so Helen is frightened by the term catheterisation. Her priority is to keep working and avoid hospital admission; she wants a tablet trial before any invasive test.

Alert and comfortable at rest. Pulse 92/min and regular, BP 116/72 mmHg, respiratory rate 18/min, oxygen saturation 95% on air, temperature 36.8°C. No chest pain or presyncope while seated. Weight 64 kg. Normal resting observations do not exclude important pulmonary hypertension.

If she had hypotension, syncope, hypoxaemia, severe chest pain, marked tachycardia or rapidly worsening breathlessness, stop the teaching sequence and arrange urgent acute assessment.

With consent, inspect for sclerodactyly, pitted scars, active ulcers, calcinosis, telangiectasia and colour change. She has sclerodactyly, healed digital pits and facial and palmar telangiectasia, without an infected ulcer. Mouth opening is mildly reduced.

These signs establish context and procedural considerations; they do not identify the cause of breathlessness. Avoid spending the encounter naming every cutaneous sign while missing cardiopulmonary severity.

JVP is elevated approximately 4 cm above the sternal angle with a prominent v wave. There is a left parasternal heave and loud pulmonary component of the second heart sound. A soft pansystolic murmur increases with inspiration. Mild bilateral ankle oedema is present; peripheries remain warm.

Fine late-inspiratory basal crackles are audible but limited. No focal bronchial breathing or wheeze. The right-heart signs make pulmonary hypertension a leading concern; basal crackles keep ILD relevant. Neither examination can distinguish pre-capillary PAH from PH caused by lung or left-heart disease.

Complete the examination with pulse rhythm, blood pressure, signs of anaemia, peripheral perfusion and targeted abdominal assessment for hepatic congestion. Consider musculoskeletal limitation and proximal strength where symptoms suggest overlap disease.

Do not perform an unsupervised corridor exertion test in a patient reporting presyncope. A standardised six-minute walk or cardiopulmonary exercise assessment belongs in an appropriately monitored pathway when clinically suitable.

ECG shows right-axis deviation and right-ventricular strain. Chest radiograph shows prominent central pulmonary arteries without pulmonary oedema. Haemoglobin is 128 g/L; renal, liver and thyroid profiles are not explanatory. NT-proBNP is 980 ng/L. These results increase concern but do not define the pulmonary-hypertension group.

Repeat pulmonary function tests: FVC 84% predicted, DLCO 39% predicted and an increased FVC/DLCO ratio. The disproportionate fall in gas transfer relative to preserved volume supports pulmonary vascular disease but is not diagnostic; emphysema, anaemia and technical factors must be considered.

Echocardiography reports high echocardiographic probability of pulmonary hypertension, right-ventricular enlargement with reduced function and no major left-sided valvular lesion. Echocardiography estimates probability and cardiac effect; it does not establish PAH haemodynamics.

High-resolution CT shows limited, stable basal fibrotic change involving less than 10% of lung parenchyma. A ventilation–perfusion assessment is required in the specialist diagnostic pathway to consider chronic thromboembolic disease; a previous routine contrast CT must not be assumed to exclude it.

At the pulmonary-hypertension centre, right-heart catheterisation confirms pre-capillary pulmonary hypertension: mean pulmonary artery pressure above 20 mmHg, pulmonary artery wedge pressure 15 mmHg or less and pulmonary vascular resistance above 2 Wood units. Exact measurements should be interpreted with the complete clinical data.

The limited stable ILD and haemodynamics support systemic-sclerosis-associated PAH rather than simply labelling all pulmonary pressure elevation as fibrosis-related. The specialist team completes risk stratification and excludes other causes before selecting disease-specific treatment.

My leading concern is pulmonary hypertension with evolving right-ventricular dysfunction in a patient at high risk because of systemic sclerosis. The disproportionate DLCO decline, raised NT-proBNP, right-heart signs and echocardiographic findings make pulmonary vascular disease more likely than deconditioning.

I would not yet call this PAH. I must distinguish group 1 SSc-PAH from PH due to ILD, left-heart disease or chronic thromboembolic disease, because giving PAH therapy to the wrong haemodynamic phenotype may be ineffective or harmful. Anaemia, infection, arrhythmia, medication effects and musculoskeletal limitation are additional contributors rather than automatic alternative diagnoses.

She is currently stable at rest, so I would arrange expedited direct assessment by the regional pulmonary-hypertension service rather than routine annual follow-up. The presyncope, right-ventricular impairment and functional decline raise risk; I would discuss the timing with the responsible specialist the same day and give clear instructions for acute deterioration.

I would not begin an empirical PAH drug in clinic. The specialist pathway must classify haemodynamics, disease group, severity, oxygenation, comorbidity and interaction risks first. Existing intermittent sildenafil for Raynaud symptoms does not constitute adequate PAH treatment and could complicate assumptions about response.

‘Your symptoms and the ultrasound of your heart suggest that the pressure in the lung circulation may be high and the right side of the heart is working harder. The mild scarring on the CT does not fully explain what we are seeing. Several different problems can raise that pressure, and their treatments are not the same.’

‘An echocardiogram estimates the likelihood; a right-heart catheter measures the pressures and blood flow directly. That lets the specialist distinguish disease in the lung arteries from pressure caused by the left heart or lung scarring. I hear that your sister’s complication makes this frightening. Let us go through how the test is performed, its material risks, the team’s safeguards and what alternatives can and cannot tell us.’

Confirmed SSc-PAH requires specialist risk assessment and treatment through a pulmonary-hypertension centre. Current international guidance applies PAH treatment algorithms to connective-tissue-disease PAH, commonly using combination disease-targeted therapy according to risk, comorbidity, contraindications and national commissioning arrangements. Do not prescribe a memorised combination without the haemodynamic and risk context.

Manage associated systemic-sclerosis problems in parallel: monitor ILD, reflux and aspiration risk; review digital vascular disease and renal function; assess vaccination, rehabilitation, oxygen need, contraception and pregnancy risk where relevant; and consider diuretics for congestion under the treating team. Immunosuppression is not a routine treatment for SSc-PAH itself, although it may be indicated for another organ manifestation such as active ILD.

Acknowledge that the patient wants to keep working. Offer written information, invite a supporter, arrange a named contact and involve the specialist nurse. Confirm who owns the referral and when she should expect contact; do not hide behind ‘discuss at MDT’ without a recommendation or timescale.

Advise urgent emergency assessment for syncope, breathlessness at rest, severe chest pain, rapidly increasing oedema, cyanosis or marked deterioration. Use teach-back: ask her to explain why mild fibrosis does not close the diagnosis, why specialist catheter assessment is being recommended and which symptoms should not wait.

Stop the elective consultation, assess ABCDE, obtain immediate observations and call acute senior help. Syncope may indicate advanced right-heart limitation but arrhythmia, pulmonary embolism, haemorrhage and other emergencies must be considered. Do not send her home to await the referral.

The balance shifts toward significant parenchymal lung disease and possible group 3 PH, although mixed disease remains possible. Involve the ILD and PH services together, assess oxygen and active ILD treatment, and avoid automatically applying a group 1 PAH drug algorithm without specialist classification.

This suggests a post-capillary contribution from left-heart disease rather than isolated pre-capillary PAH. Reassess volume status and cardiac phenotype with cardiology and the PH centre; PAH-specific treatment must not be started simply because the patient has systemic sclerosis.

Explore the feared harm, offer specialist explanation and a second conversation or supporter, and clarify the limits of non-invasive tests. Confirm decision-specific capacity and respect an informed refusal. Agree the safest alternative surveillance and deterioration plan while keeping the door open; do not coerce, abandon follow-up or prescribe empirically to bypass consent.

Strong: Elicits exertional presyncope, progression, oedema, cardiopulmonary alternatives and the effect on work.

Incomplete: Records breathlessness without functional trajectory or right-heart warning symptoms.

Unsafe: Calls it deconditioning because resting oxygen saturation and a previous CT seem reassuring.

Strong: Identifies right-heart and ILD signs, states their limits and assesses stability before exertion.

Incomplete: Lists signs without connecting them to the differential or severity.

Unsafe: Forces exertion despite presyncope or claims examination distinguishes PAH from all other PH groups.

Strong: Connects DLCO, FVC, NT-proBNP, echo, HRCT and V/Q assessment, then uses catheterisation for confirmation.

Incomplete: Requests an echocardiogram and ‘routine bloods’ without explaining the decision each test informs.

Unsafe: Diagnoses PAH from echo alone or assumes a routine CT excludes CTEPH.

Strong: Makes an expedited PH-centre referral, explains catheterisation and addresses fear while retaining a clear recommendation.

Incomplete: Says ‘refer to MDT’ without urgency, ownership or patient explanation.

Unsafe: Starts empirical PAH therapy, delays despite syncope or dismisses an informed refusal as non-compliance.

In systemic sclerosis, mild ILD does not explain every episode of breathlessness. Keep PAH, left-heart disease and CTEPH visible.

A falling DLCO out of proportion to FVC raises suspicion but does not diagnose pulmonary vascular disease.

Echocardiography estimates probability and right-heart impact; right-heart catheterisation confirms and classifies pulmonary hypertension.

Exertional presyncope and right-ventricular dysfunction accelerate the referral; syncope or instability changes the setting to emergency assessment.

Do not use a PAH medicine as a diagnostic trial. Treatment follows haemodynamic classification and specialist risk assessment.

Give a two-minute explanation that links the symptoms, DLCO, echocardiogram and catheterisation without using unexplained abbreviations. Then repeat it for a patient who refuses catheterisation and state the safest achievable plan without coercion.