Rheumatology & Haematology — Flashcards

Flashcard 591: 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 592: Rheumatoid arthritis is _____ with activity

Answer: improved

Flashcard 593: _____ is a degenerative disorder of the synovial joints due to advanced age & overuse

Answer: Osteoarthritis (OA)

Flashcard 594: Folate deficiency blood smear will show _____ polymorphonuclear cells

Answer: hypersegmented

Flashcard 595: Haemochromatosis is often a(n) _____ finding as it is asymptomatic until a later stage

Answer: incidental

Flashcard 596: _____ is characterised by the accumulation of excess iron which may result in organ damage

Answer: Haemochromatosis

Flashcard 597: _____ can be done to help rule out inflammatory arthritis when suspecting osteoarthritis

Answer: CRP

Flashcard 598: _____ 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 599: _____ is a clinical sign seen in advanced Rheumatoid Arthritis.

Answer: Boutonniere deformity

Extra: Boutonniere deformity consists of PIP flexion and DIP hyperextension, caused by rupture or attenuation of the central slip of the extensor tendon.

Flashcard 600: A red flag symptom in rheumatoid arthritis is _____ stiffness/pain because it can lead to atlantoaxial subluxation

Answer: neck