Sarcoidosis 

Today I felt very doctory.  I saw a patient in clinic by myself and then the respiratory registrar came and I presented back to him and he finished the consultation off. Sure, it’s not much different to taking a history on the ward but I was in a room by myself and I called the patient in from the waiting room and I felt proper doctory.

I saw a 56 year old woman who was in for a regular routine check up for her sarcoidosis.

Here is the history I took from her:

PC: sarcoidosis check up

HPC: diagnosed with sarcoidosis 3 years ago (Stage 1)

-Hot flushes, SOBOE (can walk two blocks before getting breathless), tiredness, depression

-Rhinorrhoea every 2 weeks, cough when she laughs or speaks too much

-Widespread arthralgia

-Palpitations

-Worsening memory loss

-Vision problems- flashing, tires when reading

PMHx:

-Haemorrhoidectomy

-Varicose vein repair

-Right knee replacement

-Hay fever

-Arthritis?

-Obstructive sleep apnoea?

DHx:

-Tramadol

-Ibuprofen

-Vitamin D

-inhaler for hay fever when needed

FHx:

-Mother died of a brain aneurysm

-Father died of a myocardial infarction 

SHx:
-Non-smoker, non-drinker

-Lives with daughter in a flat

-Mobility limited, helped with housework by sisters and daughter

-Unemployed


Sarcoidosis

Definition: multisystem granulomatous disorder that usually presents with bilateral hilar lymphadenopathy, pulmonary infiltrations and skin or eye lesions. It is a cause of diffuse interstitial lung disease and can affect every organ in the body.

A granuloma is a nodule of chronic inflammatory tissue formed by the response of macrophages and to a slowly soluble antigen or irritant.  Sarcoidosis is the most common cause of lung granulomas.

Aetiology/ risk factors: Aetiology unknown

-associated with HLA-DRB1 and DQB1 alleles

Epidemiology: uncommon, UK = 16 in 100,000

-more common in women, 20-40 year olds

-more frequent and severe in African-Caribbeans than Caucasians, and in those of Scandinavian origin

 

-Any organ system can be affected- though most commonly the lungs, skin and eyes.

Symptoms:

-mild fever, malaise, polyarthralgia

-chronic fatigue

-dry cough, progressive dyspnoea, decreased exercise tolerance and chest pain (pulmonary fibrosis or infiltration)

-wheeze (bronchospasm due to airway hyper-reactivity)

(in some cases: progressive fibrosis → increasing effort dyspnoea → cor pulmonale →death)

-moderate weight loss uncommonly

 

 

Image result for erythema nodosum

Erythema nodosum

Image result for lupus pernio sarcoidosis

Lupus pernio

Signs:

-skin features: erythema nodosum (acute presentation)

skin papules or nodules, infiltration of scars

lupus pernio (raised hardened, often purplish, skin lesion. Seen on nose, ears, cheeks, lips, and forehead.)

Lymphadenopathy- nodes enlarged but non-tender, typically involving the cervical and submandibular nodes

-ocular features: anterior or posterior uveitis (photophobia, blurred vision, posterior uveitis can threaten sight), conjunctivitis (red eyes), keratoconjunctivitis sicca (dry eyes)

 

-Possible signs and symptoms extensive due to the many extra-pulmonary features of sarcoidosis, including:

-ventricular arrhythmias (inc. heart block), conduction defects, cardiomyopathy with cardiac failure (cardiac involvement rare), sudden death

-hypercalcaemia, hypercalciuria, renal stones (sarcoid macrophages produce calcitriol-can lead to renal failure)

-Facial nerve palsy, peripheral neuropathy, hypothalamic involvement, hypopituitarism- granulomatous meningitis and pituitary granulomas leading to diabetes insipidus

-Hepatosplenomegaly, granulomatous hepatitis (abnormal LFTs)

-Arthralgias, bone cysts, dactylitis, bone destruction (long term chronic manifestation)

-enlargement of lacrimal and parotid glands (bilateral parotid hypertrophy), parotitis

-mild leucopenia (up to 40% of patients), mild anaemia (up to 20% of patients)

-(rare)-hypercalcaemic nephropathy, interstitial nephritis

Investigations:

-In ~50% cases sarcoidosis in detected incidentally on a routine CXR in an asymptomatic individual.

CXRbilateral hilar lymphadenopathy (BHL), nodules, and beading along bronchovascular bundles and fissures, progressive pulmonary fibrosis in some cases

-upper and mid-zones tend to be affected by fibrosis in sarcoidosis (compared to asbestosis and idiopathic pulmonary fibrosis, which affects lower zones)

 

Image result for bilateral hilar lymphadenopathy

Bilateral Hilar Lymphadenopathy

Staging of Intrathoracic Sarcoidosis on CXR

Stage 0- normal

Stage 1- BHL

Stage 2- BHL + Pulmonary infiltrates

Stage 3- Pulmonary infiltrates. No BHL.

Stage 4- Pulmonary fibrosis

Transbronchial biopsy: positive histological evidence in 90% of cases of pulmonary sarcoidosis- non-caseating (i.e. no necrosis, unlike in TB) granulomas = focal accumulation of epithelioid cells (Epithelioid histiocytes are activated macrophages resembling epithelial cells), macrophages and lymphocytes, mainly T cells. Epithelioid multinucleate giant cells may be present.

 

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Epithelioid cell granuloma in peripheral airway

-Biopsy and histological examination of extra-pulmonary sites of involvement such as lymph nodes, liver of skin lesions may be needed.

Bronchoalveolar lavage: increased lymphocytes (esp. CD4+)  in active disease, increased neutrophils with pulmonary fibrosis

Lung function tests: show restrictive lung defect in patients with pulmonary infiltration. Decrease in total lung capacity, FEV1, FVC (FEV1/FVC ration normal or elevated) and gas transfer. May be normal and rarely, may show obstructive picture.

Blood: ↑ESR, lymphopenia (sequestration in lung), ↑LFT, ↑Ca, ↑Immunoglobulins, anaemia

Serum angiotensin-converting enzyme (ACE): raised in 75% of patients (useful in assessing disease activity and treatment response but not of diagnostic value- also elevated in TB, lymphoma, asbestosis etc.)

24hr urine: ↑Ca

Tuberculin test: negative in 80% of patients- due to depressed cell-mediated reactivity to antigen and an overall lymphopenia with low circulating T cells, as a result of sequestration within the lung (no diagnostic value)

ECG: may show arrhythmias or bundle branch block

-Ultrasound: may show hepatosplenomegaly or nephrocalcinosis

Skeletal x-ray: helps detect bone cysts

-Note that bilateral hilar lymphadenopathy is present in LYMPHOMA and TB (as well as bronchial carcinoma with secondary spread). Serum ACE is also raised in LYMPHOMA and TB. These are two important differential diagnoses. The combination of symmetrical bilateral hilar lymphadenopathy and erythema nodosum only occurs in sarcoidosis. 

References: Cheese & Onion, Kumar & Clark’s, Rapid Medicine, BMJ Best Practice

 

 

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