Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals. This would be the most likely option as it is the only disease that can affect both liver and lung functions.
People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 20 and 50. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other signs and symptoms can include unintentional weight loss, recurring respiratory infections, fatigue, and rapid heartbeat upon standing. Affected individuals often develop emphysema. Characteristic features of emphysema include difficulty breathing, a hacking cough, and a barrel-shaped chest. Smoking or exposure to tobacco smoke accelerates the appearance of emphysema symptoms and damage to the lungs.
About 10 percent of infants with alpha-1 antitrypsin deficiency develop liver disease, which often causes yellowing of the skin and sclera (jaundice). Approximately 15 percent of adults with alpha-1 antitrypsin deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver. Signs of cirrhosis include a swollen abdomen, swollen feet or legs, and jaundice. Individuals with alpha-1 antitrypsin deficiency are also at risk of developing hepatocellular carcinoma.

In any patient with asthma, a decreasing PaO2 and an increasing PaCO2, even into the normal range, indicates severe airway obstruction that is leading to respiratory muscle fatigue and patient exhaustion.

Chest tightness and cough, which are the most common symptoms of asthma, are probably the result of inflammation, mucus plugs, oedema, or smooth muscle constriction in the small peripheral airways. Because major obstruction of the peripheral airways can occur without recognizable increases of airway resistance or FEV1, the physiologic alterations in acute exacerbations are generally subtle in the early stages. Poorly ventilated alveoli subtending obstructed bronchioles continue to be perfused, and as a consequence, the P(A-a)O2 increases and the PaO2 decreases. At this stage, ventilation is generally increased, with excessive elimination of carbon dioxide and respiratory alkalemia.

Assess the need for oxygen therapy in people with:
– very severe airflow obstruction (FEV1 below 30% predicted)
– cyanosis (blue tint to skin)
– polycythaemia
– peripheral oedema (swelling)
– a raised jugular venous pressure
– oxygen saturations of 92% or less breathing air.

Also consider assessment for people with severe airflow obstruction (FEV1 30-49% predicted).

Consider long-term oxygen therapy for people with COPD who do not smoke and who:
have a partial pressure of oxygen in arterial blood (PaO2) below 7.3 kPa when stable or have a PaO2 above 7.3 and below 8 kPa when stable, if they also have 1 or more of the following:
– secondary polycythaemia
– peripheral oedema
– pulmonary hypertension.

In mild-to-moderate heroin overdoses, arterial blood gas (ABG) analysis reveals respiratory acidosis. In more severe overdoses, tissue hypoxia is common, leading to mixed respiratory and metabolic acidosis.

The normal range for PaCO2 is 35-45 mmHg (4.67 to 5.99 kPa). Respiratory acidosis can be acute or chronic. In acute respiratory acidosis, the PaCO2 is elevated above the upper limit of the reference range (i.e., >45 mm Hg) with an accompanying academia (i.e., pH < 7.35). In chronic respiratory acidosis, the PaCO2 is elevated above the upper limit of the reference range, with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (i.e., >30 mEq/L).

Arterial blood gases with pH = 7.31; pCO2 = 7.4 kPa; pO2 = 8.1 kPa would indicate respiratory acidosis.

Small cell lung cancer (SCLC) is characterized by rapid growth and early dissemination. Prompt initiation of treatment is important.

Patients with clinical stage Ia (T1N0) after standard staging evaluation may be considered for surgical resection, but combined treatment with chemotherapy and radiation therapy is the standard of care. Radiation therapy is often added at the second cycle of chemotherapy.

Historically, patients undergoing surgery for small cell lung cancer (SCLC) had a dismal prognosis. However, more recent data suggest that patients with true stage I SCLC may benefit from surgical resection.

Common sites of hematogenous metastases include the brain, bones, liver, adrenal glands, and bone marrow. The symptoms depend upon the site of spread.

Idiopathic pulmonary fibrosis (IPF) is a condition in which the lungs become scarred and breathing becomes increasingly difficult.
The most common signs and symptoms of idiopathic pulmonary fibrosis are shortness of breath and a persistent dry, hacking cough. Many affected individuals also experience a loss of appetite and gradual weight loss.

The clinical findings of IPF are bibasilar reticular abnormalities, ground glass opacities, or diffuse nodular lesions on high-resolution computed tomography and abnormal pulmonary function studies that include evidence of restriction (reduced VC with an increase in FEV1/FVC ratio) and/or impaired gas exchange (increased P(A-a)O2 with rest or exercise or decreased diffusion capacity of the lung for carbon monoxide [DLCO]).

Smoking history and symptoms suggest a Pancoast tumour as the diagnosis. Compression of sympathetic ganglion can cause ptosis, involvement of the supraclavicular lymph node results in a palpable mass in the right supraclavicular fossa, and voice hoarseness related to laryngeal nerve compression.

Infection with Klebsiella organisms occurs in the lungs, where they cause destructive changes. Necrosis, inflammation, and haemorrhage occur within lung tissue, sometimes producing a thick, bloody, mucoid sputum described as currant jelly sputum.
The illness typically affects middle-aged and older men with debilitating diseases such as alcoholism, diabetes, or chronic bronchopulmonary disease. An increased tendency exists toward abscess formation, cavitation, empyema, and pleural adhesions.

Bronchiectasis is characterised by a blood stained productive cough with copious amount of sputum production, along with dyspnoea.

Steroids and theophylline have less of a role in the treatment of exercise induced asthma. The best method of treatment is pre-exercise short-acting β2-agonist administration. Long-acting β2-agonists, mast cell stabilizers (e.g.: Sodium cromoglycate), and antileukotriene drugs also play a role.

Pierre Robin syndrome (PRS) is a congenital defect observed in humans which is characterized by an unusually small mandible, posterior displacement or retraction of the tongue, and upper airway obstruction. Cleft palate (incomplete closure of the roof of the mouth) is present in the majority of patients.

PRS is generally diagnosed clinically shortly after birth. The infant usually has respiratory difficulty, especially when supine. The palatal cleft is often U-shaped and wider than that observed in other people with cleft palate.

Treatment:
If moderate dyspnoea: symptomatic treatment, non-invasive ventilation, supervision and assistance while eating
If severe dyspnoea: surgical correction, special interventions for long-term correction
In cases of acute life-threatening respiratory distress → tracheostomy

All of the symptoms observed in this patient are typical of bronchial carcinoma.

The clinical picture of the patient together with paraclinical investigations (spirometry) suggest COPD.

Lofgren’s syndrome is an acute form of sarcoidosis characterized by erythema nodosum, bilateral hilar lymphadenopathy (BHL), and polyarthralgia or polyarthritis. Other symptoms include anterior uveitis, fever, ankle periarthritis, and pulmonary involvement.

Löfgren syndrome is usually an acute disease with an excellent prognosis, typically resolving spontaneously from 6-8 weeks to up to 2 years after onset. Pulmonologists, ophthalmologists, and rheumatologists often define this syndrome differently, describing varying combinations of arthritis, arthralgia, uveitis, erythema nodosum, hilar adenopathy, and/or other clinical findings.

Occupational asthma (OA) could be divided into a nonimmunological, irritant-induced asthma and an immunological, allergy-induced asthma. In addition, allergy-induced asthma can be caused by two different groups of agents: high molecular weight proteins (>5,000 Da) or low molecular weight agents (<5,000 Da), generally chemicals like the isocyanates.
Isocyanates are very reactive chemicals characterized by one or more isocyanate groups (-N=C=O). The main reactions of this chemical group are addition reactions with ethanol, resulting in urethanes, with amines (resulting in urea derivates) and with water. Here, the product is carbamic acid which is not stable and reacts further to amines, releasing free carbon dioxide.

Diisocyanates and polyisocyanates are, together with the largely nontoxic polyol group, the basic building blocks of the polyurethane (PU) chemical industry, where they are used solely or in combination with solvents or additives in the production of adhesives, foams, elastomers, paintings, coatings and other materials.

The complex salts of platinum are one of the most potent respiratory sensitising agents having caused occupational asthma in more than 50% of exposed workers. Substitution of ammonium hexachlor platinate with platinum tetra amine dichloride in the manufacture of catalyst has controlled the problem in the catalyst industry. Ammonium hexachlorplatinate exposure still occurs in the refining process.

Rosin based solder flux fume is produced when soldering. This fume is a top cause of occupational asthma.

Bakeries, flour mills and kitchens where flour dust and additives in the flour are a common cause of occupational asthma.

Cadmium was not found to cause occupational asthma.

Paraneoplastic syndromes are more common in patients with lung cancer. Signs and symptoms include inappropriate antidiuretic hormone secretion, finger clubbing, hypercoagulability and Eaton-Lambert syndrome.

Because of the involvement of nose, ear and vision, the most probable diagnosis is nasopharyngeal carcinoma. Both smoking and alcohol are risk factors.

Phrenic nerve palsy causing hemidiaphragm paralysis is a very uncommon feature of thoracic aortic aneurysm.

Thoracic aortic aneurysms are usually asymptomatic however chest pain is most commonly reported symptom. Left hemidiaphragm paralysis, because of left phrenic nerve palsy, is a very rare presentation of thoracic aortic aneurysm.
Thoracic aortic aneurysm may present atypical symptoms such as dysphagia due to compression of the oesophagus; hoarseness due to vocal cord paralysis or compression of the recurrent laryngeal nerve; superior vena cava syndrome due to compression of the superior vena cava; cough, dyspnoea or both due to tracheal compression; haemoptysis due to rupture of the aneurysm into a bronchus; and shock due to rupture of the aneurysm.
Common causes of phrenic nerve palsy include malignancy such as bronchogenic carcinoma, as well as mediastinal and neck tumours. Phrenic nerve palsy can also occur due to a penetrating injury or due to iatrogenic causes arising, for example, during cardiac surgery and central venous catheterization. Many cases or phrenic nerve palsy are idiopathic.

The history is suggestive of a COPD exacerbation. As he is not responding to oxygen, an ABG should be performed to assess the level of hypoxaemia and then a decision about further management can be made. A CXR and salbutamol are also important in the acute management.