In the following pages two different cases of autoimmune disorders are outlined- The case studies include a range of presenting symptoms with any relevant
previous history, or family history if appropriate- Also included is a range of results from recently performed laboratory investigations, carried out on either the
patient or biological samples from the patient-

a) You are required to arrive at a possible diagnosis for each of the patients, by assessing and evaluating the significance of the pathology results, in light
of the history of the patient- All presenting signs and symptoms need to be fully explained-

b) Word count = 1,500 +/- 10% for each case-

c) You need to explain the significance of the results of all of the laboratory investigations, in order to justify your conclusions and diagnoses-

d) You should outline any further investigations (if any) which should, in your opinion, be performed to confirm the diagnoses-

e) You should discuss the potential therapies for the treatment of the conditions you conclude to be present in each case and outline the mechanisms of
the therapies-

Case Study # 1

Mr Brown, aged 58 years, a retired miner, presented himself at his local hospital’s Accident & Emergency Department with difficulty of getting his breath- He
also complains of an increasing weakness in his shoulders- He complains in finding it difficult to raise his arms above shoulder level-

He has found it increasingly difficult over the last few months in pulling himself up to a standing position from his amichair- He also has difficulty in carrying out
fairly light manual work, such as sweeping out his pigeon ducket (following his retirement he has recently taken up breeding and racing pigeons-)

The newly qualified SHO in casualty notices that Mr Brown also has a ptosis, which Mr Brown says has developed ‘fairly recently’- The SHO decides to
administer a single dose of a drug named edrophonium – he sees that there is an almost immediate improvement in Mr Brown’s ptosis- A range of blood
samples are taken and sent off for analysis:

Full Blood count: all parameters within normal range

Erythrocyte Sedimentation Rate: 4mm/hr

IgG precipitins against avian proteins: Negative (countercurrent electrophoresis)

HLA haplotype: HLAB7, DR2-

Routine Autoantibody Screen: Negative except an anti-nuclear antibody present at a dilution of 1110.

Anti AchR: result to follow later-

Additional question: What is the connection between this disorder and the deadly snake, the Thai Cobra?

 

 

Case Study # 2

Mr Black, aged 64, a retired process worker presented at his GP’s surgery with a fairly complex array of complaints and symptoms- He complained of general
aches and pains in his joints over the last few months, mainly affecting his wrists and ankles- He had put this down to “arthritis and advancing years’- He then
noticed that the tips of his fingers were becoming whitened and his fingers had begun to feel cold- He states that the skin on his fingers and hands seemed to
becoming tighter, and the wrinkles seemed to be disappearing from his hands- In the last few weeks the fingers on his left hand had started to become at first
discoloured and had become increasingly blackened-

On further questioning by the doctor, Mr Black complained of dryness and soreness of the mouth and eyes, and reported an increasing difficulty in
swallowing (dysphagia)- He was also embarrassed to admit that he had become increasingly flatulent and had suffered fairly severe diarrhoea in the last few
weeks, followed by spells of constipation, before his presentation at the surgery-

A number of blood samples were taken for laboratory investigation and Mr Black was referred to the local hospital for X-ray investigation- At the hospital a
skin biopsy sample was also taken for processing and investigation:

Full blood count: AII parameters were within the normal range

Erythrocyte Sedimentation Rate: 35 mm/hr

Serum electrophoresis: Indicated a marked, polyclonal, hypergammaglobulinaemia-

Serum Immunoglobulin levels: IgG = 35 gII, IgA = 8 gII, IgM = 12 gII

X-Rays: ‘Arthritic’ joints showed a thickening of the periarticular soft tissues and juxta-articular osteoporosis-

Urine examination: Proteinuria-

Skin biopsy analysis: Shows a thinning of the epidermis with Ig deposition at the dermal-epiderrnal border. Arteriolar fibrosis was also evident-

Autoantibody screen:

a) Anti Nuclear Antibody = Positive at a titre of 11320. This antibody showed an anti-nucleolar pattern of staining on immunofluorescence-

b) Anti Salivary Duct antibody: Positive-