Familial hypercholesterolaemia can be diagnosed when there are tendon xanthomata and elevated cholesterol levels present.

Familial Hypercholesterolaemia: Causes, Diagnosis, and Management

Familial hypercholesterolaemia (FH) is a genetic condition that affects approximately 1 in 500 people. It is an autosomal dominant disorder that results in high levels of LDL-cholesterol, which can lead to early cardiovascular disease if left untreated. FH is caused by mutations in the gene that encodes the LDL-receptor protein.

To diagnose FH, NICE recommends suspecting it as a possible diagnosis in adults with a total cholesterol level greater than 7.5 mmol/l and/or a personal or family history of premature coronary heart disease. For children of affected parents, testing should be arranged by age 10 if one parent is affected and by age 5 if both parents are affected. The Simon Broome criteria are used for clinical diagnosis, which includes total cholesterol and LDL-C levels, tendon xanthoma, and family history of myocardial infarction or raised cholesterol levels.

Management of FH involves referral to a specialist lipid clinic and the use of high-dose statins as first-line treatment. CVD risk estimation using standard tables is not appropriate for FH. First-degree relatives have a 50% chance of having the disorder and should be offered screening, including children who should be screened by age 10 if there is one affected parent. Statins should be discontinued in women 3 months before conception due to the risk of congenital defects.

Overall, early diagnosis and management of FH are crucial in preventing cardiovascular disease and improving patient outcomes.

Ramsey Hunt syndrome can be diagnosed based on the presence of a vesicular rash near the ear, which is often accompanied by hyperacusis in approximately one-third of patients.

Understanding Bell’s Palsy

Bell’s palsy is a sudden, one-sided facial nerve paralysis of unknown cause. It is more common in individuals aged 20-40 years and pregnant women. The condition is characterized by lower motor neuron facial nerve palsy, which affects the forehead. Unlike upper motor neuron lesions, the upper face is spared. Patients may also experience post-auricular pain, altered taste, dry eyes, and hyperacusis.

The management of Bell’s palsy has been a subject of debate. However, it is now widely accepted that all patients should receive oral prednisolone within 72 hours of onset. The addition of antiviral medications is still a matter of discussion, but it may be beneficial for severe facial palsy. Eye care is also crucial to prevent exposure keratopathy, and patients should be prescribed artificial tears and eye lubricants. If they are unable to close their eyes at bedtime, they should tape them closed using microporous tape.

If the paralysis shows no sign of improvement after three weeks, an urgent referral to ENT is necessary. Patients with long-standing weakness may require a referral to plastic surgery. The prognosis for Bell’s palsy is generally good, with most patients making a full recovery within 3-4 months. However, untreated patients may experience permanent moderate to severe weakness in around 15% of cases.

To improve poorly controlled hypertension despite taking an ACE inhibitor and a thiazide diuretic, a calcium channel blocker such as amlodipine should be added according to NICE guidelines. Loop diuretics may be considered in cases of resistant hypertension. Aldosterone antagonists and alpha-blockers are only recommended if blood pressure remains uncontrolled despite taking a combination of an ACE inhibitor or angiotensin II receptor blocker, a calcium-channel blocker, and a thiazide-like diuretic. It is important to note that ACE inhibitors should not be used in combination with angiotensin receptor blockers for hypertension management.

NICE Guidelines for Managing Hypertension

Hypertension, or high blood pressure, is a common condition that can lead to serious health problems if left untreated. The National Institute for Health and Care Excellence (NICE) has published updated guidelines for the management of hypertension in 2019. Some of the key changes include lowering the threshold for treating stage 1 hypertension in patients under 80 years old, allowing the use of angiotensin receptor blockers instead of ACE inhibitors, and recommending the use of a calcium channel blocker or thiazide-like diuretic in addition to an ACE inhibitor or angiotensin receptor blocker.

The guidelines also provide a flow chart for the diagnosis and management of hypertension. Lifestyle advice, such as reducing salt intake, caffeine intake, and alcohol consumption, as well as exercising more and losing weight, should not be forgotten and is frequently tested in exams. Treatment options depend on the patient’s age, ethnicity, and other factors, and may involve a combination of drugs.

NICE recommends treating stage 1 hypertension in patients under 80 years old if they have target organ damage, established cardiovascular disease, renal disease, diabetes, or a 10-year cardiovascular risk equivalent to 10% or greater. For patients with stage 2 hypertension, drug treatment should be offered regardless of age. The guidelines also provide step-by-step treatment options, including adding a third or fourth drug if necessary.

New drugs, such as direct renin inhibitors like Aliskiren, may have a role in patients who are intolerant of more established antihypertensive drugs. However, trials have only investigated the fall in blood pressure and no mortality data is available yet. Patients who fail to respond to step 4 measures should be referred to a specialist. The guidelines also provide blood pressure targets for different age groups.

Imaging Modalities for Nephrolithiasis Diagnosis

Nephrolithiasis, or kidney stones, can be diagnosed through various imaging modalities. Non-contrast abdominopelvic computed tomography (CT) scans are the preferred imaging modality due to their high sensitivity and specificity. Contrast scans are not recommended for initial assessment as they can obscure calcific densities. CT scans can also reveal other pathologies. Seriated X-rays, specifically KUB X-rays, can be used in conjunction with CT scans for follow-up of stone patients. Intravenous urography, while widely available and inexpensive, is less sensitive than CT scans and requires IV contrast material and multiple delayed films. Magnetic resonance imaging (MRI) is not recommended for acute renal colic evaluation as it is more expensive and less effective in stone detection. Renal ultrasonography is mainly used in pregnancy or in combination with a KUB X-ray for determining hydronephrosis or ureteral dilatation associated with a urinary tract calculus, but is less accurate in diagnosing ureteral stones and not reliable for stones smaller than 5 mm.

Recurrent priapism is a common occurrence in individuals with sickle cell disease, while alcohol and drug abuse may also lead to this condition. Balanitis, on the other hand, is an inflammation that affects the head of the penis and is not associated with priapism. Paraphimosis, however, can be caused by the inability to retract the foreskin.

Sickle-cell anaemia is a genetic disorder that occurs when abnormal haemoglobin, known as HbS, is produced due to an autosomal recessive condition. This condition is more common in individuals of African descent, as the heterozygous condition provides some protection against malaria. About 10% of UK Afro-Caribbean’s are carriers of HbS, and they only experience symptoms if they are severely hypoxic. Homozygotes tend to develop symptoms between 4-6 months when the abnormal HbSS molecules replace fetal haemoglobin.

The pathophysiology of sickle-cell anaemia involves the substitution of the polar amino acid glutamate with the non-polar valine in each of the two beta chains (codon 6) of haemoglobin. This substitution decreases the water solubility of deoxy-Hb, causing HbS molecules to polymerise and sickle RBCs in the deoxygenated state. HbAS patients sickle at p02 2.5 – 4 kPa, while HbSS patients sickle at p02 5 – 6 kPa. Sickle cells are fragile and haemolyse, blocking small blood vessels and causing infarction.

The definitive diagnosis of sickle-cell anaemia is through haemoglobin electrophoresis.

As a first-line treatment, NICE suggests using a strong corticosteroid and a vitamin D analogue separately, once a day for up to four weeks. The corticosteroid should be applied in the morning and the vitamin D analogue in the evening.

NICE recommends a step-wise approach for chronic plaque psoriasis, starting with regular emollients and then using a potent corticosteroid and vitamin D analogue separately, followed by a vitamin D analogue twice daily, and then a potent corticosteroid or coal tar preparation if there is no improvement. Phototherapy, systemic therapy, and topical treatments are also options for management. Topical steroids should be used cautiously and vitamin D analogues may be used long-term. Dithranol and coal tar have adverse effects but can be effective.

A central scotoma is a common feature of optic neuritis, along with visual loss, periocular pain, and dyschromatopsia (change in colour perception). Other classic signs on examination include a relative afferent pupillary defect. Unlike open-angle glaucoma, which typically causes painless, gradual loss of peripheral vision, optic neuritis often affects the central vision. Anterior ischaemic optic neuropathy, on the other hand, causes sudden, painless loss of vision and is more common in people over 50. Optic nerve glioma, which is rare after age 20 and may be associated with neurofibromatosis, can cause visual defects and headaches but is not typically associated with eye movement pain or colour desaturation.

Optic neuritis is a condition that can be caused by multiple sclerosis, diabetes, or syphilis. It is characterized by a decrease in visual acuity in one eye over a period of hours or days, as well as poor color discrimination and pain that worsens with eye movement. Other symptoms include a relative afferent pupillary defect and a central scotoma. The condition can be diagnosed through an MRI of the brain and orbits with gadolinium contrast. Treatment typically involves high-dose steroids, and recovery usually takes 4-6 weeks. If an MRI shows more than three white-matter lesions, the risk of developing multiple sclerosis within five years is approximately 50%.

If gastric lavage is to be attempted, it should only be done within 1-2 hours of the patient taking the overdose.

Managing Beta-Blocker Overdose

Beta-blocker overdose can lead to various symptoms such as bradycardia, hypotension, heart failure, and syncope. To manage these symptoms, it is important to first identify if the patient is bradycardic. If so, atropine can be administered. However, in cases where atropine is not effective, glucagon may be used as an alternative. It is important to note that haemodialysis is not an effective treatment for beta-blocker overdose. Proper management of beta-blocker overdose is crucial in preventing further complications and ensuring the patient’s safety.

The presence of a systolic murmur could indicate the possibility of aortic stenosis (AS). It is crucial to prioritize ruling out this condition as syncope, which is a late symptom, often occurs during physical activity in patients with AS.

Aortic Stenosis: Symptoms, Causes, and Management

Aortic stenosis is a condition characterized by the narrowing of the aortic valve, which can lead to various symptoms. These symptoms include chest pain, dyspnea, syncope, and a characteristic ejection systolic murmur that radiates to the carotids. Severe aortic stenosis can also cause a narrow pulse pressure, slow rising pulse, delayed ESM, soft/absent S2, S4, thrill, and left ventricular hypertrophy or failure. The most common causes of aortic stenosis are degenerative calcification in older patients and bicuspid aortic valve in younger patients.

If a patient is asymptomatic, observation is usually recommended. However, if the patient is symptomatic or has a valvular gradient greater than 40 mmHg with features such as left ventricular systolic dysfunction, valve replacement is necessary. Surgical AVR is the preferred treatment for young, low/medium operative risk patients, while TAVR is used for those with a high operative risk. Balloon valvuloplasty may be used in children without aortic valve calcification and in adults with critical aortic stenosis who are not fit for valve replacement.

In summary, aortic stenosis is a condition that can cause various symptoms and requires prompt management to prevent complications. The causes of aortic stenosis vary, and treatment options depend on the patient’s age, operative risk, and overall health.

While the first trimester poses a higher risk of teratogenic effects from warfarin, most healthcare providers would opt for low molecular weight heparin in such cases. Additionally, the possibility of peripartum hemorrhage and the difficulty in reversing the effects of warfarin in such a scenario should also be taken into account.

During pregnancy, the body undergoes changes that make it more prone to blood clots. This is known as a hypercoagulable state and is most common in the last trimester. The increase in factors VII, VIII, X, and fibrinogen, along with a decrease in protein S, contribute to this state. Additionally, the growing uterus can press on the inferior vena cava, leading to venous stasis in the legs.

When it comes to managing deep vein thrombosis (DVT) or pulmonary embolism (PE) during pregnancy, warfarin is not recommended due to its potential harm to the fetus. Instead, subcutaneous low-molecular-weight heparin is preferred over intravenous heparin as it has a lower risk of bleeding and thrombocytopenia. It is important for pregnant women to be aware of the signs and symptoms of DVT/PE, such as leg swelling, pain, and shortness of breath, and to seek medical attention promptly if they experience any of these symptoms.