Rogue shit

Question 1

What is methaemoglobinaemia?

Answer 1

Hb oxidised from Fe2+ to Fe 3+. Fe3+ can’t bind to oxygen leading to tissue hypoxia

Question 2

What causes methaemoglobinaemia?

Answer 2

Congenital
- Hb chain variants eg HbM, HbH
- NADH methaemoglobin reductase deficiency
Acquired
- Drugs eg dapsone, nitrates, sulphonamides

Question 3

What are the features of methaemoglobinaemia?

Answer 3

Normal pO2 but decreased O2 sats
Chocolate cyanosis
Dypnoea, headache, anxiety
Severe - acidosis, arrythmias, seizures

Question 4

What is the treatment of methaemoglobinaemia?

Answer 4

Congenital= ascorbic acid
Acquired = methylene blue

Question 5

What is acute intermittent porphyria?

Answer 5

Genetic condition causing Defect in enzyme required for synthesis of haem
Leads to toxic accumulation off components

Question 6

What is the inheritance of acute intermittent porphyria?

Answer 6

Autosomal dominant
More common in females

Question 7

What is the classic presentation of acute intermittent porphyria?

Answer 7

Abdominal, neuro and psych symptoms in 20-40yo woman
Urine turns deep red on standing

Question 8

What are the features of acute intermittent porphyria?

Answer 8

Abdo p[ain, vomiting
Motor neuropathy
Depression
HTN and tachycardia

Question 9

How is acute intermittent porphyria diagnosed?

Answer 9

Raised urinary porphobilinogen
Assay of red cells for porphobilinogen

Question 10

What triggers acute attacks in acute intermittent porphyria?

Answer 10

Drugs, weight loss, surgery

Question 11

What is the treatment of acute intermittent porphyria?

Answer 11

Avoid triggers
Acute attack - IV haematin/haem arginate
IV glucose

Question 12

What is cryoglobulinaemia?

Answer 12

Immunoglobulins that reversibly precipitate (clump) at 4 degrees

Question 13

What are the types of crypglobulinaemia?

Answer 13

Type 1 - monoclonal, associated with myeloma
Type 2 - mixed monoclonal and polyclonal, associated with rheumatoid arthritis, Hep C
Type 3 - polyclonal, associated with rheumatoid

Question 14

What are the features of cryoglobulinaemia?

Answer 14

Type 1 - Raynaud’s
Arthralgia
Distal ulceration, vascular purpura
Renal involvement - GN

Question 15

What is the management of cryoglobulinaemia?

Answer 15

Treat underlying condition
Immunosuppression
Plasmapheresis

Question 16

What is Fanconi anaemia?

Answer 16

Autosomal recessive condition causing bone marrow failure

Question 17

What are the features of Falcon anaemia?

Answer 17

Aplastic anaemia
Neurological symptoms
Cafe au last spots
Short stature
Increased risk AML

Question 18

What is hereditary angioedema?

Answer 18

Autosomal dominant condition causing low levels of C1 inhibitor. During acute attacks, uncontrolled release off bradykinin leading to oedema

Question 19

What are the features of hereditary angioedema?

Answer 19

Painful macular rash
Painless non pruritic swelling of subcutaneous/submucosal tissues
No urticaria

Question 20

What is the management of acute attack of hereditary angioedema?

Answer 20

IV C1- inhibitor concentrate, FFP
Does not respond to adrenaline, antihistamines, glucocorticoids

Question 21

What is sideroblastic anaemia?

Answer 21

Condition where red cells fail to completely form haem leading to deposits of iron in mitochondria

Question 22

What causes sideroblastic anaemia?

Answer 22

Congenital
Acquired - myelodysplasia, alcohol, lead, anti TB medications

Question 23

What is seen on bloods in siderblastic anaemia?

Answer 23

Hypochromic microcytic anaemia
High ferritin, high iron and high transferrin saturation
Basophilic stippling of red cells

Question 24

What is Wiskott-Aldrich syndrome?

Answer 24

Primary immunodeficiency due to combined B and T cell dysfunction
X linked recessive

Question 25

What is the management of aplastic anaemia?

Answer 25

Supportive
ATG - anti-thymocyte globulin
Immunosuppression
Stem cell transplant - high success rate