Patient presentations

MLA Domain 5 · Presentation

Anaemia

30 conditions in Finalist present this way. Work down the list and ask what would separate each one from the next — that discriminator is the exam question.

classic presentation · 15

Angiodysplasia

Haemodynamic compromise from acute bleeding → resuscitate as GI bleed

B12 & folate deficiency

B12-deficiency neurology (subacute combined degeneration) → urgent B12 replacement; do NOT give folate first

Coeliac disease

Refractory symptoms despite a gluten-free diet, or new alarm features → re-evaluate (adherence, refractory coeliac, lymp

Colorectal cancer

2-week-wait referral: age ≥40 with weight loss + abdominal pain; ≥50 with rectal bleeding; ≥60 with iron-deficiency anae

Constipation

NEW change in bowel habit, rectal bleeding, weight loss, anaemia, abdominal/rectal mass, age ≥50 → investigate for color

GORD & Barrett oesophagus

ALARM features → urgent endoscopy: Anaemia (iron-deficiency), Loss of weight, Anorexia, Recent-onset/progressive symptom

Haemoglobinopathies (thalassaemia)

Transfusion-dependent disease → IRON OVERLOAD (cardiac, liver, endocrine) → needs iron chelation

Haemolytic anaemia

Microangiopathic haemolysis with thrombocytopenia (schistocytes) → TTP/HUS/DIC — a haematological emergency (TTP → plasm

Haemorrhoids

Rectal bleeding with change in bowel habit, weight loss, anaemia, or age ≥50/≥60 → investigate for COLORECTAL CANCER, do

Iron-deficiency anaemia

Iron deficiency in any adult man or post-menopausal woman → urgent investigation for GI cancer (2-week-wait OGD + colono

Lower GI bleeding

Haemodynamic instability/brisk bleeding → resuscitate; a rapid upper GI bleed can mimic lower (insert NG/upper endoscopy

Lysosomal storage disorders

Progressive neurodegeneration (Tay-Sachs/Niemann-Pick) — supportive; Fabry → renal/cardiac/stroke surveillance

Multiple myeloma

Hypercalcaemia, acute kidney injury, or metastatic spinal cord compression → emergencies

Pancytopenia & aplastic anaemia

Neutropenic sepsis or serious bleeding from severe pancytopenia → emergencies

Subacute combined degeneration of the cord

Progressive disability if untreated; neurological damage may become irreversible

recognised feature · 15

Acute leukaemia (ALL & AML)

Neutropenic sepsis, bleeding from thrombocytopenia/DIC, or tumour lysis syndrome → emergencies

Anaemia — the approach

Iron-deficiency anaemia in an adult (especially post-menopausal women / any man) → investigate for GI malignancy (urgent

Blood group incompatibility (rhesus disease)

Hydrops fetalis; severe fetal anaemia; rapidly rising neonatal bilirubin

Bone tumours & metastases

Metastatic spinal cord compression (back pain + neurology) → emergency MRI + dexamethasone + oncology (cross-ref acute_c

Chronic kidney disease

A rapid fall in eGFR, accelerated hypertension, or visible haematuria → investigate for a treatable cause (GN, obstructi

Chronic leukaemia (CLL & CML)

CLL with rapidly enlarging node/systemic symptoms → Richter transformation

Enteric fever (typhoid & paratyphoid)

Intestinal perforation/GI bleeding (third week) → surgical emergency

Fanconi anaemia

Marrow failure; transformation to AML; the congenital anomalies are the diagnostic key

Fibroids

Rapid growth or postmenopausal growth → consider (rare) leiomyosarcoma

Gastric cancer

Dyspepsia + ALARM features, or age ≥55 with weight loss + upper abdominal pain → urgent (2-week-wait) endoscopy

Gastric MALT lymphoma

B symptoms, bulky/advanced disease, or histologic transformation to diffuse large B-cell lymphoma → systemic chemo-immun

Glucagonoma

Venous thromboembolism risk

Helminth (worm) infections

Strongyloides HYPERINFECTION in the immunosuppressed (e.g. before starting steroids) → screen and treat first — it can b

Innocent murmur

RED-FLAG features that mean refer/echo (NOT innocent): diastolic murmur, pansystolic, loud (≥grade 3)/thrill, harsh, abn

Irritable bowel syndrome

Red flags → investigate, NOT IBS: rectal bleeding, weight loss, anaemia, nocturnal symptoms, family history of bowel/ova