Rheumatology & Haematology — Flashcards

Flashcard 581: What investigation is needed to confirm hereditary haemochromatosis alongside iron studies? _____

Answer: Genetic testing for HFE mutation

Extra: Hereditary haemochromatosis (HH) is most commonly caused by a mutation in the HFE gene (C282Y homozygosity is the most common genotype). Genetic testing has largely replaced liver biopsy for the primary diagnosis of HH.

Flashcard 582: _____ BMI is a modifiable risk factor for osteoarthritis **bonus: why?

Answer: High

Extra: High BMI increases risk via two main mechanisms: 1. **Mechanical:** Increased loading and stress on weight-bearing joints (knees, hips). 2. **Metabolic:** Pro-inflammatory cytokines and **adipokines** (e.g., leptin) secreted by adipose tissue contribute to cartilage degradation.

Flashcard 583: Examination findings of _____ may include enlarged joints, crepitus with movement, and decreased range of motion

Answer: osteoarthritis

Flashcard 584: _____ are physical exam findings characteristic of Osteoarthritis.

Answer: Heberden's and Bouchard's nodes

Flashcard 585: What investigation can distinguish between Folate and Vitamin B12 deficiency?

Answer: - Folate deficiency: ↑ Homocysteine, **Normal** MMA - B12 deficiency: ↑ Homocysteine, **↑ MMA**

Flashcard 586: What is the initial investigation for haemochromatosis? _____

Answer: Iron studies: ↑ Ferritin ↑ Transferrin saturation ↓ TIBC (Total Iron Binding Capacity)

Flashcard 587: Secondary haemochromatosis is often caused by chronic _____

Answer: transfusions

Flashcard 588: A red flag symptom in rheumatoid arthritis is _____ stiffness/pain because it can lead to atlantoaxial subluxation

Answer: neck

Flashcard 589: When should you refer osteoarthritis for a joint replacement? _____

Answer: Substantial impact on QOL or non-surgical mx is ineffective/unsuitable

Flashcard 590: Haemochromatosis age of onset is > _____ years when body iron levels reach > 20g

Answer: 40