Diagnostic Tests in the Rheumatic Diseases

Tissue Biopsies

Test

Description

Normal

Abnormal

Diseases Association(s)

Comments

Skin biopsy

A small circular area of skin is removed with a "punch" biopsy technique or a wider area may be removed using a scalpel.  This is examined under the microscope

No abnormal pathology seen

Pathology present

In rheumatologic patients, may see evidence of vasculitis, with infiltration of the blood vessel walls by white blood cells (leukocytoclastic vasculitis) with evidence of some of these cells actually breaking up and releasing their contents.  In SLE, may see deposits of immunoglobulin and complement at the juncture of two layers of the skin called the dermal-epidermal junction

 

Mucosal lip biopsy

A tissue sample is taken from under the lower lip with a surgical procedure to obtain a minor salivary gland and see if it is invaded with a cluster of cells (lymphocytes).  There is some discomfort associated with the procedure and the healing process

Negative findings without any "focal" invasion of the salivary glands by lymphocytes

Infiltration of at least four different salivary glands with lymphocytes

A definitive diagnosis of Sjogren's syndrome requires the finding of changes on biopsy of the minor salivary glands.  Without this biopsy, the patient with dry eyes and dry mouth (confirmed with testing of tear production and eye examination and decreased saliva production) may be labelled probable Sjogren's syndrome

 

Sural nerve biopsy

In an attempt to confirm the presence of vasculitis in a patient with "systemic" illness, a sensory nerve in the leg is biopsied to determine if vasculitis is present

No pathology found

Evidence of cellular infiltration of the wall of blood vessels present consistent with vasculitis

With a sural nerve biopsy, patient will lose sensation in the distribution of the nerve along the back of the leg and over the foot.  Thus this test is only done if there is absolutely no other alternative diagnostic test possible to confirm a diagnosis of vasculitis

 

Synovial tissue biopsy

Tissue is taken from the lining tissue (synovium) of the joint for analysis.  This may be at the time of another procedure e.g. arthroscopy or by using a special needle inserted through the skin into the joint.  The tissue is then evaluated under the microscope looking for evidence of disease

No pathologic changes

Pathology found such as inflammation (synovitis)

Inflammatory cells may be found invading the lining tissue (synovium) of the joint implying that there is inflammatory arthritis present such as rheumatoid arthritis

 

Testicular biopsy

A biopsy of the vascular portion of the testes (called the rete testes) is done looking for evidence of vasculitis (inflammation of the vessel wall).  The tissue is examined under the microscope

No pathology

Pathologic changes noted with vasculitis in the vessel wall

This is a very rarely done test in patients who are suspected of having multisystemic disease but which cannot be confirmed with other tests.  The testes are a good source of blood vessels and so offer an opportunity to see evidence of cellular infiltration and inflammatory changes in the blood vessel wall

 

Temporal artery biopsy

This is a surgical procedure which involves removing a large strip of the temporal artery which is on the side of the scalp and then having the blood vessel sectioned and analyzed for evidence of vasculitis (blood vessel inflammation)

No evidence of cells invading the lining of the blood vessel

The finding of giant cells (multinucleated) in the lining of the vessel wall

The findings of giant cells on the temporal artery biopsy is diagnostic confirmation of a diagnosis of temporal arteritis (giant cell arteritis).  They may occur in patients who also have polymyalgia rheumatica with proximal muscle aching and a very high sedimentation rate

Patients may have complained of temporal headaches with a tender artery on examination with a decreased pulse over the temporal artery.  It is important that a large piece of vessel is obtained and that multiple cross sections are looked at by the pathologist so as not to miss this diagnosis

Muscle biopsy

A sample of skeletal muscle is obtained from the upper arm or thigh muscles either by using a special instrument through the skin (percutaneous) or with an open surgical biopsy technique

Benign appearing muscle fibers

May reveal infiltration of the muscle fibers with inflammatory cells, may show evidence of destruction of muscle fibers

Invasion of muscle fibers by inflammatory cells with evidence of death of muscle fibers (necrosis) or changes in size of muscle fibers may be seen in inflammatory muscle disease (polymyositis or dermatomyositis)

Need to distinguish on biopsy between polymyositis and muscular dystrophy or changes secondary to nerve changes (neuropathy)

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