Medgems Flashcards
What is the most common cause of iron deficiency anaemia in the developing world?
Hookworm
What blood test is a measure of fibrin degredation products and may reflect activity of the body’s anticoagulant system?
D Dimer
D Dimer is a measure of fibrin degradation products and hence is a proxy measure of how much “clot” is being broken down by the body.
What would blood film in iron deficiency anaemia show?
Hypochromic microcytic anaemia
Cigar cells (eliptocytes)
What is the term given to a group of genetic condition which affect the synthesis of the haem molecule, which is vital for the function of haemoglobin, peroxidase and P450 enzymes?
Porphyria
A 63 year old man is admitted to hospital with severe pain in his right flank which comes and goes in waves. He cannot remain still while the pain is at its worst.
He has had similar episodes in the past which resolved without him seeing a doctor. He has no other past medical history of note.
Blood tests reveal an elevated calcium (3.1, NR 2.2-2.6); a normocytic anaemia (Hb 90, NR >120); and an elevated urea and creatinine.
After further questioning, he reports pain in his back and his legs which has progressively been worsening.
What is the likely underlying diagnosis?
Multiple myeloma
What is the reversal agent for rivaroxaban and apixaban?
Andexanet alfa
A 80 year old man is seen by their GP.
His wife is concerned that his gums have grown. He says when he brushes his teeth, they tend to bleed.
He has had weight loss (10% in the last 6 months) and now bruises easily.
A full blood count shows a low haemoglobin and low platelets. There is an elevated white cell count, with a large number of neutrophils.
A blood film shows the presence of myeloid blast cells.
What is the diagnosis?
Acute Myeloid leukaemia
What is the classical inheritance pattern of G6PD deficiency?
X linked recessive
What first line small molecule inhibitor is used in the treatment of chronic lymphocytic leukaemia?
Ibrutinib (a tyrosine kinase inhibitor)
What description is given to red blood cells which are typically polychromatic and stain heavily for the presence of RNA?
Reticulocyte
What drug inhibits the fusion protein BCR-ABL and is used in the treatment of Chronic Myeloid Leukaemia?
Imatinib
What prothrombotic condition is associated with thrombocytopenia and immune complex formation?
Heparin induced thromboycytopenia - antibodies directed against heparin AND platelet factor 4
A 61 year old man undergoes the NHS Health check and has a blood test.
His cholesterol is high and his WCC is 24 (NR: 4-11) with a neutrophil level of 17 (NR: 1.5-8).
On examination, there is fullness in the left upper quadrant of the abdomen but no lymphadenopathy. He denies any recent travel.
He denies any fever, night sweats or weight loss. He does not feel unwell.
What is the likely diagnosis?
Chronic Myeloid Leukaemia
A 55 year old smoker presents to ED with unilateral left arm swelling which developed over a few days.
A D dimer is elevated. Platelets are elevated. Other bloods are unremarkable.
A Chest X ray is normal, although shows hyperexpanded lung fields.
What is the most appropriate next investigation?
USS Doppler L Arm
Heparin induced thrombocytopenia is associated with the formation of antibodies directed against what autoantigen?
Platelet factor 4
*not the same as factor 4
A 70 year old man presents with painless cervical lymphadenopathy.
Other than an elevated lymphocyte count, his full blood count is normal.
Immunophenotyping of lymphocytes taken from that blood sample reveal the cells are positive for CD19 and CD5.
What is the most likely diagnosis?
Chronic lymphocytic leukaemia
A 70 year old man is seen in clinic. He describes a history of progressive enlargement of a “lump” in his groin.
USS reveals it to be a lymph node and a biopsy is taken.
What is the likely histopathological type of lymphoma that will be seen on biopsy?
Diffuse Large B Cell Lymphoma
In which organ is ferritin typically found in the body?
Liver
What are inclusions of denatured haemoglobin within erythrocytes commonly called when seen in a peripheral blood film?
Heinz bodies
A 18 year old Greek man has just returned from a holiday to Malawi and arranges a GP appointment.
He said during the holiday he turned yellow, his urine turned brown and he felt more tired than normal.
He has no relevant past medical history, is up to date on her vaccinations and took antimalarial prophylaxis as directed.
The doctor suspects an intravascular haemolysis. Blood tests reveal a normocytic anaemia with unconjugated bilirubinemia. Levels of G6PD were normal. DAT negative.
What is the most likely reason for the intravascular haemolysis?
Glucose-6-phosphate dehydrogenase deficiency
Absolute levels of G6PD may be normal during an acute haemolytic crisis - to reflect an increase in RBC formation. However, the actual amount of G6PD per erythrocyte is low.
A patient has a normocytic anaemia, an elevated unconjugated bilirubin, elevated LDH and low haptoglobin.
A peripheral blood film reveals spherocytes. Direct Coomb’s test is negative.
What investigation will confirm the diagnosis?
Eosin-5-maleimide test
The EMA test helps assess the presence and amount of band 3 protein on the surface of red blood cells. Band 3 protein is an integral membrane protein that helps maintain the shape and stability of red blood cells. In hereditary spherocytosis, there is a deficiency or abnormality in band 3 protein, leading to the formation of spherocytes.
A patient with metastatic ovarian cancer is investigated for unilateral lower limb swelling and is confirmed to have a DVT.
What is the most appropriate form of anticoagulation?
DOAC
*Used to be LMWH but guidelines changed in 2020
Which chemical ion is required to convert Factor IX to Factor X in the intrinsic pathway of the clotting cascade and Factor VII to Factor X in the extrinsic pathway of the clotting disorder?
Calcium
A 14 year old boy is seen by a haematologist.
He has been referred due to concerns from his GP about a clotting disorder, as he has had recent unexplained petechiae, nosebleeds, tiredness and fatigue.
Bloods from the GP showed a pancytopenia.
The haematologist performs a full physical examination and notes the presence of longitudinal ridging in the nails and areas of whitish grey discolouration in the mouth. There are fine, end inspiratory crackles at both lung bases.
The haematologist suspects a primary bone marrow disorder.
What is the most likely diagnosis?
Dyskeratosis Congenita
The classical triad is of nail dystrophy (nail loss, longitudinal ridging), oral leukoplakia (white patches in the mouth) and skin pigmentation (lace like hyperpigmentation of skin creases)
What is the inheritance pattern of Sickle Cell Disease?
autosomal recessive
Which haematological malignancy does Fanconi anaemia have a risk of developing?
Myelodysplastic syndrome - 30%
Acute Myeloid Leukaemia - 10%
What molecule binds free haemoglobin in the bloodstream and may be used in the investigation of haemolysis?
Haptoglobin
Other than T lymphocytes, what cell type is primarily infected by HIV?
Macrophages
What are the pathogenic antibodies in bullous pemphigoid?
Anti-Hemidesmosome
A 34 year old man has severe Crohn’s disease. His gastroenterologist wishes to start a biologic drug, infliximab. What infection should be ruled out before commencing the drug?
Tuberculosis
Monoclonal antibodies directed against TNF-alpha are associated with activation and dissemination of latent TB. TNF-alpha is vital for the control of TB infection in the lungs. If it is blocked, TB can grow unchecked. Hence, prior to starting treatment with an anti-TNF-alpha antibody, a mantoux test should be performed to exclude exposure to TB. If the mantoux is positive, an interferon gamma release assay (IGRA) is then performed. If that is also positive, the patient has latent TB and requires treatment before starting the biological therapy.
What antigen is injected intradermally as part of the mantoux screening test for tuberculosis?
Tuberculin Purified Protein Derivative
What is the target of the antibody P-ANCA?
Myeloperoxidase
What is the target of the antibody C-ANCA?
Proteinase 3
A 21 year old woman reports weight loss, tiredness, diarrhoea and non-bloody offensive smelling stools. She has had three chest infections requiring antibiotics in the last three years. Blood tests are ordered and reveals a hypochromic, microcytic anaemia with low ferritin. Anti-TTG and anti-endomysial antibodies are negative. There are normal levels of IgG, IgM and IgE. No IgA is found.
What is the most likely cause of her gastrointestinal symptoms?
Coeliac Disease
Particular caution should be noted in the diagnosis of coeliac disease, as the common autoantibodies that are used for diagnosis are of the type IgA (Anti-Endomysial and Anti-Tissue Transglutaminase).
Hence, in IgA deficiency (1 in 600 people), they may be falsely negative.
IgA levels should always be assessed at the same time when assessing for coeliac disease.
What immunomodulatory agent may be given to treat chronic granulomatous disease?
Interferon Gamma
What monoclonal antibody targets IL-17 and is involved in the treatment of psoriasis, psoriatic arthritis and ankylosing spondylitis?
Secukinumab
What is the main metabolite of azathiroprine?
6-Mercaptopurine
*Ensure you check Thiopurine methytransferase levels ahead
What class of medication acts by inhibiting phospholipase A2 and reduces the expression of pro-inflammatory cytokines?
Corticosteroids
What immune cell releases granzyme and perforin when activated?
NK cells
CD8 is specifically a marker of what type of immune cell?
Cytotoxic T cells
A 20 year old man is screened for primary immunodeficiencies by his GP after a number of recent, severe infections.
A full blood count was normal.
IgA Normal
IgM Low
IgG Low
What immunodeficiency is this patient likely to have?
Common Variable Immunodeficiency
Diagnosis of exclusion in patients greater than 4 years old. The diagnostic criteria are:
Decrease in serum IgG and a decrease in one of IgM or IgA.
There is a lack of antibody response to antigens or immunisation
More than 4 years old.
Patients will have increased infections with bacteria such as Haemophilus, Strep (usually immunized against) and Staph. There is an increased rate of autoimmune conditions and malignancies. Treatment is with normal human IVIg for life.
What assay is used as the first line test for HIV infection?
Enzyme linked Immunosorbent Assay (ELISA)
What antiretroviral drug is given as IV monotherapy during labour to prevent vertical transmission of HIV-1?
Zidovudine
What monoclonal antibody targets CD20 and is used in the treatment of lymphomas?
Rituximab
What antigen does the immune system erroneously target in autoimmune thrombocytopenic purpura?
Glycoprotein 2b/3a
What serine protease released by neutrophils causes hepatitis and emphysema in patients deficient in alpha-1 antitrypsin?
Neutrophil elastase
Which cell surface receptor allows cells of the innate immune system to bind to immunoglobulins?
Fc receptor
What viral enzyme is predominantly responsible for the high mutation rate of HIV and other RNA viruses?
Reverse Transcriptase
The paediatric SpR is called to review a 21 day old infant who is pyrexic and appears unwell. His parents are concerned about his florid diarrhoea since birth and an eczema-like rash that has been present since day 3 after birth. He has a fever of 39C. Blood tests reveal a neutrophil count of 8 (normal range: 1.5-8.0), absent T cells and elevated B cells. What primary immunodeficiency is this patient likely to have?
X Linked Severe Combined Immunodeficiency
Defect in the gamma chain of IL2 receptor
In skin prick testing, what is used as a positive and negative control?
Histamine = positive
Saline = negative
On what cell is the RANK receptor found?
Osteoclasts
Denosumab targets RANKL and therefore prevents the development of osteoclasts. RANKL binds to the RANK receptor on osteoclast precursors and promotes cell differentiation into osteoclasts. Hence, inhibition of RANKL/RANK receptor interaction reduces bone turnover and may increase bone density.
Which cytokine is important in the pathogenesis of rheumatoid arthritis, anyklosing spondylitis and inflammatory bowel disease?
Tumour Necrosing Factor alpha
How long before skin prick testing must antihistamines be stopped to allow for accurate interpretation?
48 hours
The paediatric SpR is called to review a 2 day old infant who is jaundiced, pyrexic and appears very unwell. The parents think he has a problem with his hearing as he did not cry when the fire alarm went off on the ward. He has a fever of 40.1C. Blood tests reveal an absolute neutropenia and absolute lymphocytopenia. What primary immunodeficiency is this patient likely to have?
Reticular dysgenesis
A neutrophil releases preformed myeloperoxidase, defensins and neutrophil elastase. What is this process known as?
Degranulation
A 23 year old female presents to her GP with painful wrists bilaterally. On questioning, she also hasn’t been herself for a few months due to being exhausted. She put this down to looking after her 6 year old with suspected ADHD.
On examination, you notice a scaly erythematous rash on the patient’s face sparing the nasolabial folds. She says she got badly sunburnt a few weeks ago on holiday and is still recovering from it. She says the joint pain has been particularly bad since receiving the sunburn.
FBCs reveal an elevated White Cell Count, TFTs unremarkable, Coeliac screen negative, Rheumatoid Factor Positive, ANA positive.
What is the diagnosis?
Systemic Lupus Erythematosus
Which joints in the hand are classically not affected by rheumatoid arthritis?
Distal interphalangeal joints
The paediatric SpR is called to review a 21 day old infant who is pyrexic and appears unwell. The parents think he has a problem with his hearing as he has been tugging at his ear. There is pain, tenderness and swelling over the mastoid process of his left ear. Blood tests reveal a neutrophil count of 0.1 (normal range: 1.5-8.0) What primary immunodeficiency is this patient likely to have?
Kostmann syndrome
What test is the ability of a patient’s serum to lyse sheep erythrocytes coated with rabbit anti-sheep antibodies?
CH50 - to test function of complement system
What mouse monoclonal antibody targets CD3 on the surface of T cells?
Muromonab CD3
What monoclonal antibody can be used in the treatment of osteoporosis?
Denosumab
A 5 year old girl is seen by her GP. Her mother says she is unable to sleep at night as her knees, elbows and shoulders are very red and painful, especially to touch. Her mother has also noticed small bumps under her skin. She is currently pyrexic, but the mother says she is still recovering from a bad sore throat two weeks ago.
What is the most likely diagnosis?
Acute rheumatic fever
HIV infected CD4+ cells are killed by the immune system. What cell type is responsible for this?
T killer cells (CD8+)
Mutation in what cell surface receptor may confer immunity from HIV?
CCR5
What HLA allele is associated with Rheumatoid Arthritis?
HLA-DR4
Ritonavir is an example of what class of antiretroviral drug?
Protease inhibitor
What enzyme, deficient or defective in chronic granulomatous disease, is responsible for the “respiratory burst” that may kill phagocytosed pathogens?
NADPH oxidase
What monoclonal antibody targets alpha4 integrin and is used in the treatment of relapsing remitting multiple sclerosis?
Natalizumab
What is the long term management of Common Variable Immunodeficiency?
Normal human IVIG
Which cytokine is predominantly responsible for T cell proliferation and survival?
IL-2
What is the long term management of Bruton’s agammagobulinaemia?
Normal human IVIG
Which subtype of T helper cells are implicated in the development of allergic diseases, such as asthma or eczema
T helper 2 cells
Parasites and helminths activate the Th2 arm of the adaptive immune response.
This is a process mediated by cytokines such as IL-4, IL-5 and IL-13.
This axis is also implicated in the development of allergy.
A 30 year old female is seen by the rheumatologist.
Her mother suffered from rheumatoid arthritis.
She reports an insidious history of tiredness, multiple painful joints and unintentional weight loss. She says the joints most affecting her are her wrists and knuckle joints.
On examination, there is a swan neck deformity of the fingers on both hands. When asked to push her hand against the table, the deformity corrects itself.
She has an elevated ESR but normal CRP.
Autoimmune screen reveals she is ANA positive, with high titres of Anti-Sm, Anti-Ro and Rheumatoid Factor.
What is the diagnosis?
Systemic Lupus Erythematosus
A correctable/reversible deformity suggests Jaccoud’s arthropathy as part of SLE rather than a diagnosis of rheumatoid arthritis.
What monoclonal antibody targets IL-23 and IL-12 and is used in the treatment of psoriasis or psoriatic arthritis?
Ustekinumab
What lymphocyte lineage does mycophenolate mofetil predominantly inhibit?
T lymphocytes
A 31 year old accountant reports an itchy rash over the trunk and back that has been present for the last 7 weeks. On examination, there are smooth erythematous papules with evidence of excoriation. She reports no association with food, time and has changed her washing powder to a “Non-Bio” formulation.
What condition is she suffering from?
Chronic urticaria
Which arm of the complement pathway is implicated in the pathogenesis of systemic lupus erythematosus?
Classical
A 31 year old woman presents to their GP with tiredness and offensive smelling diarrhoea with no blood. Since the diarrhoea has started, she has complained of recurrent bouts of skin infections and food poisoning like symptoms.
She is anti-TTG and anti-endomysial antibody positive. A full STI screen is negative. FBC is unremarkable. Albumin and levels of IgA, IgG, IgE and IgM are very low.
What condition has her uncontrolled coeliac disease caused that has led to her functional immunosuppression?
Protein Losing Enteropathy
May be diagnosed by performing faecal alpha-1 antitrypsin levels
What is the most common inherited primary immunodeficiency?
Selective IgA deficiency (1 in 500)
What drug class does dolutegravir belong to?
Integrase inhibitor
What type of immune cell upon activation undergoes class switching and somatic hypermutation?
B lymphocytes
*This is before they turn into plasma cells
In what cell in the human body do Leishmania parasites multiply?
Macrophages
There is an outbreak of diarrhoea and vomiting on a cruise ship.
The onset of symptoms in affected individuals is sudden and lasts for a few days. Spread of the virus has not been abated despite the rigorous use of alcohol gel by patrons aboard.
Affected individuals have eaten different food prepared in different kitchens.
What is the likely pathogen responsible?
Norovirus
What is the recommended antibiotic prophylaxis for bites by either cat, dog or human in a patient with no known allergies?
Co-amoxiclav
Cancer of what organ is commonly associated with schistosomiasis infection?
Bladder
What is the transmission route of listeriosis?
Faecal oral route
What fungal antigen may be detected in blood samples in a patient with invasive aspergillosis?
Galactomannan
Features of severe or complicated malaria in children
- Respiratory distress or acidosis (may present with acidotic breathing)
- Hypoglycaemia (< 2.2 mmol/L)
- Severe anaemia
- Cerebral malaria (as above)
- Parasitaemia > 2% red blood cells parasitized
- Inability to stand or sit
Features of severe or complicated malaria in adults
- Shock
- Cerebral malaria — impaired conscious level (Glasgow coma score less than 11) or seizures
- Renal failure
- Haemoglobinuria — P. falciparum can cause severe haemolysis with dark red urine (‘blackwater fever’)
- Hypoglycaemia (< 2.2 mmol/L)
- Acidosis
- Sepsis — more common in pregnant women
- DIC
- Respiratory distress which may be due to pulmonary oedema or acute respiratory distress syndrome (ARDS) — common in pregnant women
- Parasitaemia > 10%
- Severe anaemia
What is the scientific name of the pork tapeworm?
Taenia Solium
How is Q fever typically diagnosed?
Serology
What viral protein is responsible for the virulence and tropism of SARS-CoV-2?
Spike protein
What is the first line antimicrobial for treatment of Lyme Disease?
Doxycycline
A pregnant woman at term (38+3) has her urine dipped which shows the presence of nitrites and leukocytes.
However, she denies any dysuria or other symptoms.
If indicated, what is the first line antibiotic for the treatment of this patient?
Cephalexin
Nitrofurantoin would be first-line but it is advised to be avoided at term. Amoxicillin is 2nd line but is subject to the availability of culture results
What is the appropriate treatment for Visceral Leishmaniasis?
Liposomal amphotericin B
What is the first line antibiotic for the treatment of a bacterial sore throat in a patient with no known allergies?
Phenoxymethylpenicillin
What class of antibiotics does ciprofloxacin belong to?
Fluoroquinolones
What class of antibiotics does doxycycline belong to?
Tetracycline
To what family of viruses does SARS-CoV-2 belong?
Coronaviridae
What is the treatment for human tapeworms in adults?
Praziquantel
A fine art student travels to New York, where he eats scrambled eggs.
12 hours later, he becomes unwell with profuse diarrhoea. There is no blood. He has diffuse abdominal pain with pain that comes and goes in waves.
What organism is likely responsible for his symptoms?
Salmonella enterica
Salmonella enterica is commonly associated with foodborne illness and can cause symptoms such as vomiting, diarrhea, and abdominal pain.
The consumption of undercooked eggs is a known risk factor for Salmonella enterica infection.
A possible differential is campylobacter, but this is typically associated with undercooked chicken and often produces bloody diarrhoea.
What antibiotic would you prescribe first line for an infective exacerbation of COPD with a suspected bacterial aetiology?
Amoxicillin
What is the primary infective lesion produced by Mycobacterium tuberculosis called in the lungs?
Gohn focus
What assay is currently used to identify if someone has previously been infected with SARS-CoV-2?
ELISA
What is the host protein required for entry of SARS-CoV-2 into human cells?
Angiotensin Converting Enzyme 2
What is the first line topical antibiotic for treatment of limited impetigo?
Fusidic acid
A 20 year old is seen by his GP 5 months after returning from his gap year in India.
He has been given several courses of antibiotics and steroids for a single, non healing ulcer approximately 2-3cm in diameter on his left ankle.
On examination, there is a 2-3cm painless, volcano-like lesion on his shin with raised indurated borders.
Blood tests including a full blood count are essentially unremarkable.
What is the likely diagnosis?
Cutaneous leishmaniasis
What antibiotic should be prescribed for a penicillin allergic, clinically stable patient with cellulitis?
Clarithromycin
What viral enzyme is inhibited by oseltamivir?
Neuraminidase
What is the vector for transmission of leishmaniasis?
Sandflies - protozoan disease which multiples in macrophages inside the body
A sputum sample is taken from a 56 year old patient suffering from treatment resistant asthma.
They have an elevated serum IgE level. Their symptoms responded very well to steroids but rapidly returned after cessation of steroids. The respiratory consultant suspects Allergic Bronchopulmonary Aspergillosis.
What is an appropriate histological stain to use on this sputum sample to identify the responsible organism?
Methenamine Silver Stain
A 58 year old gentleman is undergoing chemotherapy for multiple myeloma. As per safetynetting advice he has received, he presents to the Emergency Department feeling unwell. In triage, his temperature is 38.9c.
He describes a history of 2-3 days of nonspecific malaise, which he attributed to his chemotherapy last week. This morning, he awoke sweating with intermittent rigors. You take a full history and find that he has pain in his lower back, hip and his right knee, which has a visible, tender, effusion.
On examination, he is curled up in bed with the sheets over his head - he says he is cold. His neutrophil count is 21 (high).
As part of your neurological examination, you ask him to flex his hips fully, flex and then extend his knees. With difficulty, he is able to extend his left knee, but he cannot extend his right knee due to excruciating knee pain.
What condition explains the patient’s symptoms?
Septic arthritis
What is the first line antimicrobial for treatment of gonorrhea?
Ceftriaxone (usually given IM)
A 15 year old swimmer present with a month long history of itching and scaling between the toes on his right foot.
On examination there is macerated skin between the 3rd and 4th toes on the right foot, associated with erythema and scaling.
What organism is most likely responsible for this presentation?
Trichophyton rubrum
Trichophyton rubrum is a common dermatophyte that causes athlete’s foot, which presents with symptoms of itching, scaling, and erythema between the toes, especially in swimmers who are often in moist environments.
A 72 year old man with COPD and poorly controlled HIV presents to the emergency department following a severe episode of haemoptysis. He reports no other symptoms.
A high resolution CT scan reveals multiple large bullae and a large left upper lobe rounded mass surrounded by a crescent of air.
Serum galactomannan is positive.
What is the diagnosis?
Aspergilloma
What class of antibiotics does gentamicin belong to?
Aminoglycoside
In immunocompetent patients, what is the typical presentation of listeriosis?
Gastroenteritis
*In immunosuppressed patients, it can cause meningitis, encephalitis and sepsis
Which enzyme has reduced activity in Gilbert’s syndrome and is responsible for the elevated unconjugated billirubin levels?
UDP glucuronyl transferase
What medications are given in non-acute gout?
Allopurinol: inhibits the enzyme xanthine oxidase to reduce urate synthesis
Probenecid: increases fractional excretion of uric acid.
In general, what pH imbalance is associated with hypokalaemia?
Alkalosis
In general, low blood pH (acidaemia) is associated with increased plasma potassium concentration (hyperkalaemia), whereas high blood pH (alkalaemia) is associated with decreased plasma potassium concentration (hypokalaemia). The underlying mechanism for this is due to a hydrogen potassium transporter, which exchanges K+ ions for H+ ions on cell membranes. In hypokalaemia there is a low concentration of K+ ions in the blood. To compensate for the low K+, this transporter pumps K+ out of the cell into the blood in exchange for H+. The reduced H+ in the blood results in an alkalosis.
In sarcoidosis, production of which enzyme by granulomatous tissue can lead to hypercalcaemia?
1 alpha hydroxylase
*Cancers can produce PTHrp which also raise calcium levels
A 38 year old man with hypertension has high plasma sodium and low plasma potassium.
He is diagnosed with Conn’s syndrome.
What is the likely result of an Aldosterone:Renin ratio in this patient?
Elevated
You are handed the following VBG while working in the emergency department.
The patient has coeliac disease and is very unwell, with a blood pressure of 84/36. She describes a 3 day history of productive cough and fevers.
pH 7.21
BE -12
Na 131mmol/L
K 6mmol/L
Cl 109mmol/L
HCO3 12mmol/L
Glucose 3mmol/L
Lactate 2mmol/L
You are also given the urea (6mmol/L) and serum osmolarity which is 290mmol/L. Inflammatory markers are normal.
What condition is responsible for of her metabolic acidosis?
Addison’s
She has a normal anion gap metabolic acidosis with low sodium and high potassium
What condition describes inadequate function of the proximal renal tubules of the kidney and is associated with glucosuria, hypophosphatemia and hyperuricosuria?
Fanconi syndrome
Fanconi syndrome (NB: Fanconi anaemia is something else) is an inherited or acquired condition where there is almost complete failure of the proximal convoluted tubule in the kidney to reabsorb molecules.
In bile acid synthesis Acyl-CoA cholesterol acyltransferase (ACAT) is the enzyme that converts cholesterol into what?
Cholesterol ester
What is the most potent pharmacological agent at reducing low density lipoprotein concentration in blood?
Evolocumab
A 26 year old man presents to his GP with a yellow nodule on his achilles tendon.
You notice a bluey grey ring around his cornea and yellow irregularly shaped deposits around his eyelids.
Low density lipoprotein (LDL) is raised whereas high density lipoprotein (HDL) and triglycerides are normal.
Genetic studies reveal a LDL receptor mutation.
What is the diagnosis?
Familial Hypercholesterolemia