SECTION SIX

SYNDROMES

The Symptoms, Diagnosis, Treatment and Complications

of Medical Syndromes

 

SYNDROME: A concurrence of several symptoms in a disease.

Oxford English Dictionary

 

FORMAT

 

Syndrome name  [Abbreviation]

(Alternate Name)

Des:    Description. Characteristic symptoms and signs of the syndrome. (Symptoms and signs that are not

always present are shown in brackets)

Test:    Pathological, radiological, electrophysiological and other appropriate tests used in the diagnosis, with the

expected result of the test in a patient with the syndrome shown in (brackets). See also Section Three Investigations and Section Four Pathology Tests.

Trt:    Treatment. The available treatments for the syndrome, if any

Comm:    Comment. Further discussion on the epidemiology and complications of the syndrome

See also Other  Relevant Syndromes

 

 

SAMPLE ENTRIES:-

 

Frey Syndrome

(Auriculotemporal Syndrome)

Des:    Sweating and vasodilatation in the distribution of the auriculotemporal nerve when eating

Trt:    Surgery

Comm:    Due to disturbance between the sympathetic and parasympathetic nerves. May  follow infection or surgery to the parotid gland

 

Fröhlich Syndrome

(Dystrophia Adiposgenitalis)

Des:    Puberty or later onset, loss of libido and sexual function, thin skin that wrinkles prematurely, scanty body hair, fine scalp hair, obesity of buttocks, genitals and thighs, lethargy

Test:    Exclude pituitary tumour

Trt:    Hormone supplements

Comm:    Rare

 

Fuchs Syndrome

(Fuchs Uveitis, Heterochromic Cyclitis)

Des:    Chronic non-granulomatous anterior uveitis, different coloured irises,  blurred vision, slow onset, unilateral, young adult or child, (secondary cataract, glaucoma)

Test:    Abnormal gonioscopy

Trt:    None available

Comm:    Regular checks for glaucoma or cataract formation

 

Gaisböck Syndrome

(Stress Erythrocytosis)

Des:    Polycythaemia, hypertension, smoker, plethora  (middle aged, overweight, white male,  alcohol abuse)

Test:    B.erythrocytes (H), plasma volume (L), PCV (H)

Trt:    None necessary

Comm:    No splenic enlargement. May be familial

SECTION FIVE

TREATMENT

Therapy and Prognosis

 

FORMAT

 

Disease  [Abbreviation]

(Alternate Name)

Ther:    A commonly recognised form of therapy OR other recognised forms of treatment

    AND additional therapy that may be required

    ADD  additional types of therapy if above does not prove effective

    1. First step in a therapeutic crescendo or format

    2. Second and subsequent steps in a crescendo or format are numbered sequentially

Prec:    Precautions that should be observed in the treatment of this disease. For further information on

contraindications, precautions, adverse reactions, interactions, use in pregnancy, use in children, dosage and administration consult a pharmacopaea such as MIMS or MIMS Annual

Prog:    Prognosis. The expected result of treatment, statistically treated if appropriate

See also Other  Relevant Diseases

 

 

SAMPLE ENTRIES:-

 

Depression

Ther:   1. Emotional and psychological support

            2. Antidepressant medication (eg. SSRI, SNRI, tricyclic, RIMA)

    ADD benzodiazepine (eg. diazepam) for short-term relief of stress.

            3. Buspirone.

            4. MAOI.

            5. Major or minor tranquillisers.

            6. Electroconvulsive therapy.

            7. Psychotherapy.

Prec:   MAOI - severe reaction with certain foods and drugs, eg. cheese, red wine, beans, liver; other

 tyramines, tricyclic antidepressants; amphetamines.

Prog:   Generally good. Often recurrent. Very disruptive to family. Beware of potential for suicide.

See also Postnatal Depression

 

Dermatitis Herpetiformis

Ther:   Dapsone OR sulfapyridine

            AND gluten-free diet.

Prog:   Drugs do not cure, only control and help skin lesions and not those in gut. Gluten-free diet life-long

necessary. May be associated with thyroid disorders, pernicious anaemia, lymphoma and diabetes.

 

Dermatitis, Most Forms of, Dry

(Xerotic and Asteatotic Dermatitis)

Ther:   1. Avoid irritant clothing, chapping, sweating.

            2. Avoid soaps and other allergens.

            3. Moisturising creams.

            4. 10% urea preparations.

            5. Hydrocortisone 1.0% cream or ointment.

            6. Oral antihistamines for pruritus.

            7. Oral antibiotics for severe infections.

            8. Stronger steroid creams or ointments.

            9. Oral prednisone short-term.

Prog:   Cure rare, control normally adequate. Often recurrent, or may subside spontaneously.

See also Atopic Eczema; Perioral Dermatitis; Rash; Seborrhoeic Dermatitis

SECTION FOUR

PATHOLOGY

The Interpretation of Pathology Tests

 

FORMAT

 

Test Name, Test Substance  [Abbreviation]

(Alternate Name) [Abbreviation]

RI:    Reference interval (or value), and units. System Internationale (SI) units are used where possible.

(Alternative units are in brackets). 90% of the population have results that lie within this range.

Ind:    Indications. The suspected diseases and conditions in which the test is indicated.

Int:    Interpretation of the results. The diseases, conditions, syndromes etc. that should be considered with

results that vary from the reference interval (eg: HIGH, LOW, V.LOW). With a history, examination and possibly other tests (in some instances, other tests that should be considered are in brackets after the diagnosis followed by a ?), a definite diagnosis may be made from the differential diagnoses suggested.

Phys:    The basic physiology of the test, to enable the significance to be better understood.

See also Other Relevant Tests

 

 

SAMPLE ENTRIES:-

 

 

Anti-Deoxyribonucleic Acid Titre, Serum [Anti-DNA]

RI:    <100 IU/mL

Ind:     Connective tissue disease (auto-immune disease)

Int:     HIGH – autoimmune disease eg. SLE, rheumatoid arthritis etc.

Phys:     Used in association with other tests to diagnose and follow the course of certain  autoimmune

disease. Major criteria should be used for diagnosis of individual disease.  Does not rise in drug induced SLE

See also ANCA, Serum; Anti-Smith Antibodies, Serum; Cardiolipin Autoantibodies, Blood; Complement C3 and C4; DNA Autoantibodies; ENA, Serum; Histone Autoantibodies, Blood; HLA-DR3, Serum; LE Cells, Blood; Lupus Anticoagulant Antibody, Serum

 

Sodium, Serum [Na+]

RI:    135-145 mmol/L

    Pregnancy : 132-140 mmol/L

Ind:    Fluid/electrolyte imbalance

Int:    V.LOW  (<120 mmol/L) - Critical care required, causes as below.

    LOW (hyponatraemia) - Clinical effects not likely unless below 125mmol/L. Over hydration, acute or

chronic diarrhoea, salt losing nephropathy, hypothyroidism, fresh water drowning, hyperglycaemia, Addison's disease, hypopituitarism, acute renal  failure, syndrome of inappropriate ADH secretion, infection, carcinoma, cirrhosis,  ascites, congestive cardiac failure, cystic fibrosis, severe burns, excess sweating, prolonged storage of sample, recreational drugs (eg. ecstacy), medications (eg. diuretics, tricyclic and SSRI antidepressants, MAOI, clozapine, ACE inhibitors, celecoxib, sulphonylureas, cytotoxics, carbamazepine, phenothiazines, clofibrate, temazepam, desmopressin)

    HIGH (hypernatraemia) - Dehydration, salt water drowning, uraemia, diabetes  insipidus, hyperaldosteronism,  excess salt intake, mechanical ventilation

Phys:    The level of serum sodium regulates body water volumes. Dehydration may be due to lack of water

or lack of salt (sodium). Clinical signs of severe hyponatremia include  confusion, seizures, reduced cosciousness, and tachycardia.  

See also Anion Gap, Serum

SECTION THREE

INVESTIGATIONS

The Pathology Tests and Clinical Signs that will Confirm a Diagnosis and the Differential Diagnoses of Diseases

 

FORMAT

 

Suspect Diagnosis [Abbreviation]

(Alternate Name)

Test:    The pathology tests (biochemistry, haematology, cytology and bacteriology) that should be considered

when a history and examination indicate that this is a probable diagnosis. The result that may be expected with this diagnosis is shown in (brackets) after each test. Physiological,electrophysiological (eg: ECG) and radiological tests are not always included. See Pathology section four  for the explanation and interpretation of these tests

Sign:    Signs (not symptoms), methods of examination and clinical findings that may be useful in the diagnosis of, or may be found in association with, this disease or syndrome. See Symptoms section two for the explanation and interpretation of these signs

DD:    Differential diagnoses. Other diseases with which this diagnosis may be confused

Phys:    The basic physiology of the disease, to enable the reason for abnormal pathology tests or signs to be

better understood

See also Other Entries or  Sections of Significance

 

 

SAMPLE ENTRIES:-

 

Goodpasture Syndrome

Test:    B.glomerular basement mebrane antibodies (+), lung or renal biopsy (AB), sputum blood (+), sputum

microscopy (haemosiderin laden macrophages), S.urea (H), S.creatinine  (H), U.blood (+), U.protein (+)

DD:    Bronchitis, pneumonia, TB, renal failure, nephrotic syndrome, glomerulonephritis

Phys:    Syndrome of pulmonary haemorrhages and renal failure due to damaged basement membranes in

the kidney and lungs

See also Syndromes section six : Goodpasture Syndrome

 

Gout

Test:    S.urate (H), synovial fluid microscopy (urates present), fluid WCC (H), 24 hour U.urates  (L in

underexcretors), ESR (H), WCC (H), S.creatinine (H)

DD:    Osteoarthritis, pseudogout, rheumatoid arthritis, trauma, synovitis, cellulitis, osteomyelitis, sarcoid,

multiple myeloma, psoriatic arthritis, Reiter syn., ankylosing spondylitis

Phys:    Excess intake of purines and under excretion of urates predisposes to high serum uric acid levels and

crystal deposition in joints. A normal s.urate does not exclude gout as a diagnosis

 

Granuloma Inguinale

(Donovanosis)

Test:    Tissue microscopy (Donovan Bodies +)

Sign:    Papule or ulcer on genitals

DD:    Neoplasm, chancroid, syphilis, amoebiasis, lymphogranuloma venereum

Phys:    Caused by Calymmatobacterium granulomatis

SECTION TWO

SIGNS

Clinical Signs and their Interpretation

 

SIGN: Objective evidence of disease or deformity

Butterworths Medical Dictionary

 

FORMAT

 

Sign (Alternate Name) [Abbreviation]

Exp:    An explanation of the sign, with its methodology described in sufficient detail to enable the practitioner

to perform the test.

Int:    The interpretation of the sign.

    (+) The diseases, syndromes etc. that should be considered if the test is positive

    (++) The interpretation of an exaggerated or grossly positive test

    (–) Ditto for a negative test result

    (AB) Ditto for an abnormal test result

Phys:    The pathophysiology of the sign to enable its significance to be better understood

See also Other Signs of Significance

 

 

SAMPLE ENTRIES:-

 

Nail Discolouration

Exp:    Nail or subungual tissue colour change

Int:    Black – Haematoma, melanoma, naevi, pseudomonas infection, fungal infection, chronic paronychia

    Brown – Uraemia, psoriasis, nicotine, Addison's disease, mercury poisoning, silver poisoning, chemical

stains

    Yellow – Tinea, jaundice, yellow nail syn., slow growth, lymphoedema, tetracyclines

    Blue – Cyanosis, mepacrine, chloroquine, Wilson's disease, argyria, amodiaquine

    White (Leuconychia)  – Trauma, cardiac disease, renal disease, psoriasis, dermatophyte infection,

hypoalbuminaemia, cytotoxics, arsenic, liver disease

    Red – Haemorrhage, congestive cardiac failure (half moons red), cold exposure

    Green – Pseudomonas, aspergillus or candida infections

 

Nail Pitting

Exp:    Small isolated or confluent pits on the nail plate

Int:    (+) Psoriasis, chronic paronychia, digital eczema, alopecia areata, familial

Phys:    Inflammatory damage to nail matrix

 

Nail Ridging

Exp:    Longitudinal or transverse ridging of nail plate

Int:    (+) Longitudinal – Elderly, nail matrix tumours, lichen planus, alopecia areata, rheumatoid arthritis,

Darier's disease, mucous cyst of matrix, peripheral vascular disease, nail dystrophy

    (+) Multiple transverse – Eczema, chronic paronychia, habit tics, chronic inflammation of digit, chronically wet nails (eg. housework), severe dysmenorrhoea, Raynaud's disease, severe carpal tunnel syn., protein deficiency

    (+) Single transverse ‘Beau's line’ – Occurs after severe physical or emotional illness of any cause

Phys:    Transverse ridging due to temporary cessation of nail formation. When cause removed, nail growth resumes, and the ridge moves forward with the nail plate growth.

See also Splinter Haemorrhages