Age-related Macular Degeneration (AMD) Age-related Macular Degeneration (AMD) Home A Overview Age-related macular degeneration (AMD) refers to the ageing-induced damage of the macula, which is the central part of the retina. The macula, which consists of light-sensing tissues that line the back of the eye, is responsible for sharp, clear central vision. In AMD, the central vision is blurred, while the peripheral (side) vision is not affected. This common condition is the most prominent cause of vision impairment in people aged > 50 years.The visual precision required for daily activities is greatly impaired by AMD. The progression of this disease interferes with several activities, including facial recognition, driving, and viewing details up close (for example, telling the time) or from afar (for example, trying to view a bus number), or reading.Early diagnosis and timely treatment can impede the progression of AMD. Regular eye checkups, knowledge regarding risk factors, and prompt medical attention to alterations in vision are crucial for the preservation of eyesight. With proper eyecare and management, vision can be effectively maintained in patients with AMD. Two primary types of AMD Dry AMD: About 75%–80% of AMD cases represent the dry form. Genetic and environmental factors are thought to cause dry AMD although an exact cause has not yet been identified. Dry AMD involves the gradual degradation of the light-sensitive cells in the macula (generally, one eye at a time). The loss of vision is usually slow and gradual. Most patients experience near-normal vision or only slight vision loss. The ageing-induced deterioration of an important support membrane under the retina has been theorised to cause dry AMD.Wet AMD: Although wet AMD is a less common type of AMD, it is the most common cause of severe loss of vision. Usually, vision loss after wet AMD is more severe than that after dry AMD. The occurrence of wet AMD occurs is attributed to the growth of abnormal blood vessels beneath the retina. This causes a leakage of fluid and blood (giving rise to the term ‘wet AMD’), which prevents the light-sensitive cells in the retina from functioning properly. Ultimately, due to the bleeding and scarring, a large blind spot is created in the centre of the visual field. This causes the permanent loss of central vision. However, as the peripheral (side) vision is not affected, complete vision loss is unlikely. Regular eye exams are recommended to diagnose wet AMD as it progresses more rapidly than dry AMD, preventing extensive vision loss. Geographic atrophy, a less common form of wet AMD, represents a condition involving the severe thinning or loss of the macula. However, there is an absence of leaking blood vessels. Antiangiogenic medicines are not effective against geographic atrophy. Causes The exact causes of AMD are unknown. However, certain patient groups have been reported to be at a higher risk of developing this condition. Such groups include subjects who are smokers and/or overweight and subjects with hypertension. A family history of AMD may also be a risk factor. Diagnosis It is diagnosed by an ophthalmologist and confirmed with the help of additional imaging tests, such as:Retinal scan to evaluate AMD severity.Optical coherence tomography (OCT) of the macula. In this non-invasive imaging test, light waves are used to capture cross-section pictures of the retina.Regular comprehensive eye exams, even in the absence of changes in vision, are advised for the early detection of AMD before major vision loss. Early detection and timely treatment are crucial to counter the impairment of vision caused by AMD progression. Treatment Preventive measures for AMD include:Cessation of smoking, consuming a well-balanced diet (to maintain a healthy weight), and following a healthy lifestyle, including regular exercise regimens.Certain antioxidant-based and zinc-based supplements may halt the progression of AMD although their benefits have not been proven.Treatment options for AMD include:Wet AMD: Wet AMD is treated by injecting anti-vascular endothelial growth factor (VEGF) drugs, also known as anti-angiogenic medicines, into the eye. They prevent the growth and leakage of abnormal blood vessels and bleeding under the retina. In most cases, repeated injections are required several times per year to control wet AMD.Dry AMD: No treatment options are currently available for dry AMD. Read more about Age-related Macular Degeneration (AMD) Filter Alphabet A
Acute-on-chronic Liver Failure (ACLF) Acute-on-chronic Liver Failure (ACLF) Home A Overview Acute-on-chronic liver failure (ACLF) is a severe and life-threatening condition characterised by the rapid deterioration of liver function in patients with pre-existing chronic liver disease. ACLF is distinct from general liver failure as ACLS exhibits a higher speed of onset, i.e., a rapid decline in liver function—whereas general liver failure can be either acute (rapid loss of liver function) or chronic (gradual loss of liver function)—causes multiple organ failure (kidney, liver, heart, brain, lungs) by inducing intense systemic inflammation (across the body). Causes ACLF typically occurs in individuals who have preexisting chronic liver disease, such as cirrhosis. The acute deterioration of liver function can be triggered by various factors, including:Infections:Bacterial infections: Spontaneous bacterial peritonitis (SBP), pneumonia, or urinary tract infections can trigger ACLF.Viral infections: Hepatitis viruses (e.g., Hepatitis B, Hepatitis C) can trigger ACLF.Fungal infections: In immunocompromised individuals with cirrhosis, fungal infections can trigger ACLF.Alcohol abuse: Excessive alcohol consumption or sudden binge drinking can lead to liver injury, precipitating ACLF in patients with pre-existing liver disease.Hepatotoxic drugs: Certain medications (e.g., acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs)) can worsen liver function.Gastrointestinal bleeding: Excessive bleeding from varices (due to portal hypertension) or gastric ulcers can lead to ACLF.Renal (kidney) failure: Pre-existing kidney issues or acute kidney injury (AKI) can worsen liver function, resulting in ACLF.Metabolic disturbances: Electrolyte imbalances, dehydration, or hyperammonemia (a metabolic condition associated with high levels of ammonia in the blood) can exacerbate liver dysfunction.Systemic inflammatory response: Conditions like sepsis, shock, or pancreatitis can trigger a systemic inflammatory response, thereby contributing to liver failure.Hepatic encephalopathy: This condition can complicate the underlying liver disease, leading to ACLF.Presence of comorbidities: Comorbidities, like kidney dysfunction (renal failure), cardiovascular disease, and metabolic disorders can contribute to the worsening of ACLF.Poor nutrition: Malnutrition, which is common in liver disease, can weaken the body’s ability to recover from stressors like infection or injury, thereby enhancing susceptibility to ACLF.Older age: Older patients with chronic liver disease are at higher risk of developing ACLF. Symptoms The symptoms of ACLF are related to acute deterioration of liver function as well as the multi-organ failure that can accompany it; these include:Jaundice: This condition occurs due to bilirubin accumulation.Ascites: Fluid accumulation in the abdomen due to liver dysfunction and portal hypertension.Hepatic encephalopathy: Confusion, altered mental status, and in severe cases—coma—due to the inability of the liver to detoxify toxic substances in the blood.Hepatorenal syndrome: Acute kidney failure, marked by low urine output and high levels of creatinine.Gastrointestinal bleeding: Characterised by vomiting blood (hematemesis) or black, tarry stools (melena) due to variceal rupture or ulcers.Fever and infection signs: In ACLF cases triggered by infection, fever, chills, and increased white blood cell counts may be observed.Fatigue and weakness: Generalised malaise and lethargy due to liver and multi-organ failure.Hypotension: Low blood pressure, often due to septic shock or liver dysfunction. Diagnosis The diagnosis of ACLF is clinical, supported by laboratory tests and imaging. Key diagnostic steps include:Clinical criteria:History of chronic liver disease: The patient typically has a history of chronic liver disease, e.g., cirrhosis.Acute deterioration of liver function: Sudden worsening of liver function, often identified by increasing bilirubin levels and INR (coagulation disorders), and worsening encephalopathy.Blood Tests:Liver function tests: Elevated AST, ALT, and bilirubin levels.Coagulation tests: INR >1.5.Kidney function tests: Creatinine and blood urea nitrogen (BUN) levels to assess renal (kidney) function.Complete blood count (CBC): To check for infection or bleeding.Arterial blood gas (ABG): To assess metabolic acidosis or respiratory dysfunction.Serum ammonia: To assess hepatic encephalopathy.Imaging:Ultrasound: To assess the liver, portal vein, and presence of ascites or masses.CT or MRI: To evaluate liver structure, complications (e.g., tumours, abscesses), and other organ involvement.Endoscopy: To assess oesophageal varices.Assessment of organ function: Multisystem organ failure (kidneys, lungs, cardiovascular system) is often evaluated, as ACLF can involve multiple organs. Treatment The treatment of ACLF focuses on managing the underlying liver disease, treating the acute precipitating factors, and addressing multi-organ failure. The approach includes:Treating the underlying cause(s):Infections: Antibiotics, antivirals, or antifungals depending on the causative pathogen.Alcohol: Systems and medications to enable complete cessation of alcohol consumption.Discontinuation of hepatotoxic drugs: Stopping any drugs or substances that may have contributed to ACLF.Supportive care:Nutritional support: Adequate caloric intake, often through enteral feeding or parenteral nutrition if necessary.Management of ascites: Diuretics (spironolactone, furosemide) to manage fluid accumulation.Hemodynamic support: Intravenous fluids, vasopressors, and monitoring to stabilize blood pressure and manage septic shock if present.Liver Support:Liver transplantation: The definitive treatment for patients with ACLF who have end-stage liver disease.Artificial liver support systems: In some cases, devices like the molecular adsorbent recirculating system (MARS) may provide temporary liver support.Management of complications:Lactulose and rifaximin: These drugs reduce ammonia levels in the blood, thereby managing hepatic encephalopathy.Renal replacement therapy: Dialysis may be required for patients with acute kidney failure (hepatorenal syndrome).Endoscopic treatments: For variceal bleeding.Critical care: Intensive care management, including mechanical ventilation, continuous monitoring, and multi-organ support are needed for ACLF patients as the condition can rapidly progress to liver failure. Read more about Acute-on-chronic Liver Failure (ACLF) Filter Alphabet A
Alcohol-associated Hepatitis (AAH) Alcohol-associated Hepatitis (AAH) Home A Overview Alcohol-associated hepatitis (AAH) is a serious form of ALD whose key features include liver cell injury, inflammation, and liver dysfunction. AAH can range from mild (acute) to severe (chronic). Importantly, it can sometimes lead to liver failure. Causes and risk factors The most significant risk factor for AAH is long-term excessive alcohol consumption. Other factors affecting AAH development include:Family history: An individual’s genetic background influences how the liver metabolises alcohol, thereby affecting the likelihood of developing AAH. Certain genetic variations in liver enzymes can make some individuals more susceptible to developing AAH.Gender: Women are more susceptible to alcohol-associated liver damage, developing AAH even in response to lower alcohol intake (compared to men).Obesity: Obesity, especially when associated with fatty liver disease (N/AFLD), can worsen liver injury in individuals who drink excessively.Hepatitis C and B infection: Co-existing chronic viral hepatitis (hepatitis C or B) increases the risk of developing AAH and worsens its outcomes.Other liver diseases: Individuals with preexisting liver diseases like cirrhosis or non-alcoholic fatty liver disease (NAFLD) may be more likely to develop AAH after heavy alcohol consumption.Nutritional deficiencies: Chronic alcohol consumption can lead to poor nutrition, which may further exacerbate liver injury. Symptoms The symptoms of alcohol-associated hepatitis can vary, ranging from mild to severe. They include: Jaundice: This is a hallmark symptom, indicating liver dysfunction.Abdominal pain: This is more prominently felt in the upper right side of the abdomen.Fatigue: Owing to compromised liver function, the affected individuals feel excessively tired or weak.Loss of appetite: This is often associated with nausea (urge to vomit) or vomiting.Fever: Mild to moderate fever can occur in the case of AAH.Ascites: Fluid buildup in the abdomen is often seen in advanced cases of AAH.Hepatomegaly: AAH causes enlargement of the liver, which can result in discomfort or a sensation of fullness.Confusion or mental changes: In severe cases, particularly in case of liver failure, confusion or disorientation can occur (hepatic encephalopathy); the person might even slip into a coma.Easy bruising or bleeding: Affected individuals become susceptible to easy bruising or bleeding owing to impaired clotting function of the liver.Liver failure: In severe cases, AAH can rapidly progress to liver failure, which is a medical emergency. Diagnosis AAH is diagnosed using several strategies (clinical evaluation, laboratory tests, and imaging). These include:Clinical history: Information regarding the quantity, frequency, and duration of alcohol use—along with other risk factors—is collected.Physical examination: Patients are evaluated for signs of liver damage (jaundice, hepatomegaly (enlarged liver), ascites, or mental status changes) are observed.Laboratory tests:Liver function tests: In AAH, AST levels are often more elevated than ALT levels, and the AST to ALT ratio is typically greater than 2.Complete blood count (CBC) test: Reduced counts of white blood cells (leukopenia) and platelets (thrombocytopenia) may be observed in AAH.Coagulation tests: Prolonged prothrombin time (PT) or increased international normalised ratio (INR) can indicate impaired liver function.Serum bilirubin: Elevated bilirubin levels indicate AAH with jaundice.Albumin levels: Extremely low albumin levels are a sign of liver failure.Imaging:Ultrasound: This modality helps assess the liver size, texture, and any evidence of cirrhosis or fatty liver; however, it cannot definitively diagnose AAH.CT or MRI: These modalities may be used to rule out other liver diseases or complications.Liver biopsy: A liver biopsy may be performed to confirm the diagnosis, particularly in uncertain cases, and to assess the extent of liver damage (inflammation, fibrosis, or cirrhosis).Rule out other causes: As hepatitis can have multiple causes, tests need to be performed to rule out other types of hepatitis (e.g., hepatitis B, C, A, E). Treatment The treatment for AAH aims to manage symptoms, prevent complications, and address the underlying alcohol use disorder.Support groups, counselling, or alcohol rehabilitation programs: These may be necessary to help individuals stop drinking.Medications:Corticosteroids (e.g., prednisolone): These are often used to manage moderate to severe cases of AAH. However, they are not effective in all cases and may have side effects, particularly in patients with underlying infections or liver failure.Pentoxifylline: This medication may help reduce the risk of renal failure in patients with severe AAH.Liver transplantation: In patients with severe, life-threatening AAH for whom management using medications might not work or who have progressed to liver failure, a liver transplant may be necessary.Nutritional support: Malnutrition is common in AAH, so providing adequate nutrition (vitamin B supplementation) is essential to prevent complications such as Wernicke-Korsakoff syndrome (which is due to vitamin B deficiency). Patients may require enteral nutrition (feeding through a tube) or parenteral nutrition (intravenous (IV) feeding) in severe cases.Management of complications:Diuretics (e.g., spironolactone): These may be used to reduce fluid buildup in the abdomen (ascites).Therapeutic paracentesis (removal of fluid): This might need to be performed in severe cases of ascites.Lactulose: This can be used to lower blood ammonia levels and reduce confusion in case of hepatic encephalopathy.Supportive care: In severe cases, particularly when liver failure is imminent, hospitalisation and intensive care may be required to monitor vital signs, kidney function, and prevent infections.Liver transplantation: Liver transplantation is considered for individuals with acute AAH and severe liver failure who do not improve with medical treatment. Prevention Limiting alcohol consumption is the key to preventing the occurrence of AAH. For individuals with existing liver disease, it is critical that alcohol consumption be avoided completely to prevent further liver damage. Read more about Alcohol-associated Hepatitis (AAH) Filter Alphabet A
Advanced Liver Fibrosis Advanced Liver Fibrosis Home A Overview Advanced liver fibrosis is the later stage of liver fibrosis, where significant scarring and damage to the liver tissue have occurred. This type of liver fibrosis can progress to cirrhosis, ultimately culminating in severe life-threatening conditions like portal hypertension, hepatocellular carcinoma (a type of liver cancer), or liver failure. Causes and risk factors The causes of advanced liver fibrosis are typically the same as those for early fibrosis, but the only difference is that they have persisted over a long period, leading to more severe liver damage. The causes and risk factors that differ to some extent from those of early liver fibrosis have been enumerated below (for others, please check early liver fibrosis).Chronic hepatitis C: Hepatitis C is associated with a higher risk of progressing to advanced fibrosis as compared to hepatitis B.Viral infections (other than hepatitis): HIV and other viral infections can exacerbate liver damage, particularly in individuals with hepatitis C.Chronic inflammation: Persistent liver inflammation due to autoimmune diseases, cholestasis (condition when the flow of bile from the liver is reduced or blocked), or chronic infections contribute to advanced fibrosis. Symptoms The symptoms of advanced liver fibrosis overlap to a large extent with those of early liver fibrosis and, therefore, can be checked by referencing the “early liver fibrosis” section. Other symptoms have been detailed below.Spider angiomas: In advanced stages of liver fibrosis, small, spider-like blood vessels appear on the skin (often on the chest, face, or hands).Palmar erythema: Redness in the palms of the hands—caused by blood flow changes in the liver—is also observed in some cases.Bruising and bleeding: Liver dysfunction can impair the production of clotting factors, leading to easy bruising and bleeding, such as nosebleeds or gum bleeding.Swelling in the legs or abdomen (oedema and ascites): Fluid retention can occur with declining liver function. Confusion or mental changes (hepatic encephalopathy): In severe cases, toxins that the liver can no longer filter out can affect the brain, leading to confusion, forgetfulness, or changes in behaviour. Diagnosis Most of the diagnostic techniques for advanced liver fibrosis overlap with those of early liver fibrosis, and the ones that differ (even slightly) have been enumerated below.Blood tests:Liver function tests: In advanced fibrosis, ALT, AST, ALP, and bilirubin levels may be persistently elevated, and albumin levels can be low.Prothrombin time (PT) test: PT is an indicator of the liver's ability to produce clotting factors. Though PT may be normal in early fibrosis, it is prolonged in advanced liver fibrosis.Analysis of fibrosis markers: The AST-to-platelet ratio index (APRI) is considered to be the best index for predicting significant liver fibrosis, and the combination of APRI and Fibrosis-4 (FIB-4) is the best for predicting patients with advanced fibrosis or cirrhosis. Treatment Most of the treatment strategies for advanced liver fibrosis overlap with those of early liver fibrosis, and the ones that differ (even slightly) have been enumerated below.Treating complications:Salt restriction, diuretics, and paracentesis (removal of fluid): These may be used to manage fluid retention or ascites.Lactulose: This can be used to reduce ammonia accumulation in the blood, thereby countering hepatic encephalopathy.Beta-blockers: These medications can be used to manage portal hypertension.Transjugular intrahepatic portosystemic shunt (TIPS): This procedure is used to reduce pressure in the liver’s blood vessels (portal hypertension).Liver cancer surveillance: Individuals with advanced liver fibrosis—especially cirrhosis—are at an increased risk of developing hepatocellular carcinoma (type of liver cancer). Regular screening via imaging and blood tests (e.g., AFP) is recommended. Prevention Vaccination: Individuals at risk should get vaccinated for hepatitis B and hepatitis A. Read more about Advanced Liver Fibrosis Filter Alphabet A
Alcoholic Steatohepatitis (ASH) Alcoholic Steatohepatitis (ASH) Home A Overview Alcoholic steatohepatitis (ASH) is an advanced form of AFLD characterised by inflammation of the liver and fat accumulation in response to excessive alcohol consumption. It represents a progression from AFLD to more severe liver damage. If left untreated, it can lead to liver fibrosis, cirrhosis, and even liver failure. Causes and risk factors The primary cause of ASH is excessive alcohol consumption. I have enumerated the causes and risk factors of ASH below.Oxidative stress: Alcohol metabolism increases the production of reactive oxygen species (ROS), which contribute to oxidative stress and damage liver cells, leading to inflammation (hepatitis).Toxic effects of alcohol: Acetaldehyde—a byproduct of alcohol metabolism—is toxic to liver cells and induces oxidative stress, leading to inflammation (hepatitis) and liver cell injury.Fatty liver: AFLD coupled with inflammation can result in ASH.Inflammation and immune response: Chronic alcohol consumption (prolonged and excessive consumption of alcohol) triggers an immune response, resulting in liver inflammation (hepatitis).Several factors increase the risk of developing ASH, including:Heavy and chronic alcohol consumption: Long-term alcohol abuse is the primary risk factor for ASH.Malnutrition: Chronic alcohol use often leads to poor nutrition, which can enhance liver damage and increase the risk of developing ASH.Genetics: Genetic predisposition plays a role in determining how individuals metabolise alcohol and how their liver responds to alcohol-induced damage. Specific genetic variations can make some individuals more prone to developing ASH.Gender: Women are at higher risk of developing ASH than men due to differences in alcohol metabolism and liver function.Age: With age, the liver becomes less efficient at metabolising alcohol, increasing the likelihood of liver damage.Obesity and overweight: Individuals who are overweight or obese and are chronic alcohol consumers are at high risk of developing ASH.Diabetes and insulin resistance: Type 2 diabetes and insulin resistance increase the risk of developing ASH, as high blood sugar levels and insulin resistance promote fat accumulation in the liver.Other liver diseases: Individuals with a history of viral hepatitis (e.g., hepatitis C) or other pre-existing liver conditions are more likely to develop ASH if they consume alcohol. Symptoms In the early stages, ASH may not cause any noticeable symptoms. However, as the disease progresses, symptoms can become more apparent and include:Fatigue: Affected individuals feel unusually tired or weak.Abdominal pain or discomfort: Affected individuals feel discomfort, especially in the upper right part of the abdomen (where the liver is located).Nausea (urge to vomit) and vomiting: These symptoms often accompany liver dysfunction.Loss of appetite: Affected individuals feel a decreased desire to eat, leading to weight loss.Enlarged liver (hepatomegaly): The liver becomes enlarged due to inflammation. Diagnosis The first step in ASH diagnosis involves reviewing the complete medical history of the patient (alcohol consumption patterns, duration of drinking, and any history of liver disease or other related conditions). Other diagnostic strategies include:Physical examination: A physical exam may reveal signs of liver enlargement, jaundice, or abdominal tenderness.Blood tests:Liver function tests: In ASH, the AST to ALT ratio tends to be higher (AST > ALT).Complete blood count (CBC): This test can help detect abnormalities, such as low platelet counts, which are often seen in cirrhosis or advanced liver disease.Bilirubin levels: Elevated bilirubin levels can indicate impaired liver function.Albumin and prothrombin time: These tests assess the liver’s ability to produce clotting factors, a phenomenon that may be impaired in liver disease.Imaging tests:Ultrasound: This non-invasive technique can be used to check for liver enlargement and fat accumulation.CT or MRI: These imaging modalities can provide more detailed images of the liver and may help identify fibrosis or cirrhosis.Elastography: This specialised ultrasound technique is used to measure liver stiffness, which is an indicator of liver fibrosis or cirrhosis.Liver biopsy: A liver biopsy may be performed to confirm the diagnosis of ASH, assess the degree of inflammation, and evaluate liver damage. It is often used when other tests do not provide definitive answers or if the disease progression needs to be assessed. Treatment Stopping alcohol consumption is the most important step in treating ASH as continuing to drink alcohol can worsen liver inflammation and damage, leading to cirrhosis and liver failure. The treatment and management modalities of ASH include:Support for alcohol cessation: Modalities, such as counselling, rehabilitation programs, or medications (e.g., disulfiram, naltrexone, or acamprosate) may be needed to help patients stop drinking.Nutritional support: Individuals with ASH often suffer from malnutrition; therefore, proper dietary management is essential. A balanced diet rich in vitamins, minerals, and protein can help support liver regeneration. In some cases, nutritional supplements or enteral feeding may be necessary.Medications: While there are no specific drugs approved for treating ASH, certain medications may be used to reduce liver inflammation and manage associated conditions:Corticosteroids: In severe cases of ASH, corticosteroids (e.g., prednisolone) may be used to reduce inflammation, though their use is controversial and depends on the severity of the disease.Antioxidants: Some studies suggest that vitamin E may help reduce liver inflammation, especially in non-diabetic patients.Managing complications: Treating associated conditions, like diabetes, high cholesterol levels, or high blood pressure can help reduce the strain on the liver.Regular monitoring: Individuals diagnosed with ASH require continuous monitoring to assess liver function, detect complications early, and adjust treatment as needed. Prevention The best way to prevent ASH is to avoid heavy alcohol use. Other strategies include:Maintaining a healthy weight: Obesity can enhance liver damage, so maintaining a healthy weight can help protect liver health.Eating a balanced diet: A healthy diet supports liver function and reduces the risk of liver disease.Avoiding excessive use of medications: Some drugs can accelerate liver damage, so it is important to avoid unnecessary medications or use them under the guidance of a healthcare provider. Read more about Alcoholic Steatohepatitis (ASH) Filter Alphabet A
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Home A Overview Autosomal dominant nocturnal frontal lobe epilepsy is a rare genetic condition characterized by seizures that primarily occur during sleep. It originates from the frontal lobe of brain and is inherited in an autosomal dominant pattern. Thus, it has up to 75% likelihood of genetic mutation being transferred to the offsprings. Causes Mutations in CHRNA2, CHRNA4 and CHRNB2 genes Risk factors Being born with brain abnormalitiesFamily history of seizures or epilepsyDevelopmental disabilityBrain infections or infectionsSeizures in infancy or early childhood Symptoms Seizures during sleepHand clenchingArm raising or loweringVocalizationsSense of fearDizziness Specialist to approach Neurologist Diagnosis Clinical examination and family historyEEG Treatment Antiseizure medications Read more about Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Filter Alphabet A
Alcoholic Fatty Liver Disease (AFLD) Alcoholic Fatty Liver Disease (AFLD) Home A Overview Alcoholic fatty liver disease (AFLD) is the earliest stage of ALD, and is characterised by abnormal hepatic accumulation of fat (steatosis) in response to alcohol consumption; such a liver generally appears light yellow in colour. AFLD. Importantly, it can progress to more severe liver conditions, such as alcoholic steatohepatitis, liver fibrosis, cirrhosis, and liver cancer. Causes and risk factors Chronic alcohol abuse is the primary cause of AFLD. Other factors include: Genetic factors: Some people are genetically predisposed to developing AFLD due to differences in how their liver metabolises alcohol or their ability to tolerate alcohol-related damage.Nutritional deficiencies: Malnutrition and poor diet—often associated with chronic alcohol use (heavy and prolonged)—can accelerate liver damage and increase the risk of AFLD.Obesity: Overweight individuals are at higher risk of developing AFLD.Other liver diseases: People with pre-existing liver conditions (like hepatitis B or C infection) are more susceptible to developing AFLD.Age and gender: The risk of developing AFLD increases with age, and women may be more susceptible to AFLD than men, even with lower levels of alcohol consumption.Other health conditions: Diabetes, high cholesterol, and high blood pressure may increase the risk of developing AFLD. Symptoms In the early stages, AFLD may exhibit no symptoms (asymptomatic) or very mild symptoms. As the condition progresses, more symptoms can manifest; these include:Fatigue: Feeling unusually tired or lethargic.Pain or discomfort in the upper right abdomen: This generally observed as the upper right abdomen is the place where the liver is located.Enlarged liver (hepatomegaly): The liver may become palpable (feel enlarged) upon examination.Jaundice and dark urine: These conditions can occur in more advanced stages of AFLD, when the liver loses its ability to process bilirubin.Loss of appetite: Reduced desire to eat.Nausea and vomiting: These are often seen in more advanced liver disease.Most people with AFLD do not exhibit symptoms until the disease progresses to more serious stages, such as alcoholic steatohepatitis. Diagnosis The first stage of diagnosis includes a full review of the patient’s medical history, including alcohol consumption patterns and assessment of liver disease signs and any pre-existing conditions, like diabetes or obesity. Other diagnostic strategies have been enumerated below.Physical examination: This involves checking for liver enlargement or tenderness.Blood tests: A multitude of blood tests are available for diagnosing AFLD; these include,Liver function tests: Elevated ALT and AST levels can indicate liver injury; however, these tests are not specific to AFLD.Alcoholic biomarkers: Elevated GGT levels and mean corpuscular volume (MCV) may indicate alcohol-related liver damage; however, these are not specific to AFLD.Complete blood count (CBC): CBC can help detect signs of liver dysfunction (e.g., low platelet counts), including AFLD.Imaging techniques: A variety of imaging techniques can be used to detect liver damage, including AFLD.Ultrasound: This non-invasive test can assess fat accumulation in the liver.CT or MRI: These can provide more detailed images of the liver and detect fat deposits.Elastography: This specialised ultrasound technique can measure liver stiffness, which can indicate liver damage.Liver biopsy: In some cases, liver biopsy may be used to confirm the presence of fat in the liver and assess the degree of liver damage. Biopsies are typically done when the diagnosis is uncertain or to rule out other liver diseases. Treatment Abstinence from alcohol is the cornerstone of AFLD treatment. Continuing to drink alcohol can worsen the liver damage, and AFLD can progress to more severe conditions, like alcoholic steatohepatitis and cirrhosis. The treatment and management modalities of AFLD include:Support for cessation of alcohol consumption: Programs, therapy, or medications (such as disulfiram or naltrexone) may be prescribed to help individuals stop drinking.Nutritional and lifestyle changes: A few dietary and lifestyle changes can help manage AFLD.Proper nutrition: A healthy, balanced diet rich in vitamins, minerals, and antioxidants can support liver health and improve outcomes.Weight loss: Gradual weight loss (5‒10% of the body weight) can help reduce liver fat and improve liver function, especially in individuals with obesity.Avoiding fatty foods: Reducing the consumption of saturated fats and processed foods can help lower the liver’s fat load.Managing underlying conditions: Management of pre-existing conditions can also help manage AFLD.Diabetes: Proper management of blood glucose levels can help prevent further liver damage.High cholesterol levels: Lowering the cholesterol levels with medications like statins may help protect the liver.High blood pressure: Controlling blood pressure with medications can reduce the strain on the liver.Medications: Currently, there are no medications specifically approved for AFLD; however, some studies suggest that vitamin E may help reduce liver inflammation in individuals with AFLD (especially non-diabetic individuals). Prevention The most effective way to prevent AFLD is to reduce or eliminate alcohol intake. Other preventive measures include:Maintaining a healthy weight: Obesity contributes to the development of fatty liver disease, so maintaining a healthy weight can reduce the risk of AFLD.Eating a balanced diet: Avoiding excessive fats and sugars, and focusing on a nutritious diet rich in fruits, vegetables, lean proteins, and whole grains can help manage AFLD.Exercising regularly: Physical activity helps manage weight and improves liver health.Monitoring and managing underlying conditions: Proper management of diabetes, high cholesterol levels, and high blood pressure can reduce the strain on the liver and help prevent AFLD. Read more about Alcoholic Fatty Liver Disease (AFLD) Filter Alphabet A
Autonomic Neuropathy Autonomic Neuropathy Home A Overview Autonomic neuropathy involves the autonomic nervous system and is caused by damage to the nerves controlling automatic body functions. Causes Guillain-Barre syndromeParaneoplastic neuropathyAmyloid neuropathyMultisystem atrophyFabry’s disease Risk factors Uncontrolled diabetes.Other diseases including amyloidosis, porphyria, and hypothyroidismCancer Symptoms DiarrhoeaGastroparesisPostural dizzinessAbdominal painPseudo-obstruction Diagnosis Autonomic function testsGastrointestinal testsTilt-table testQuantitative sudomotor axon reflex test Treatment Treatment of underlying conditionsManaging the specific symptomsMedications Read more about Autonomic Neuropathy Filter Alphabet A
Autism Autism Home A Overview Autism or autistic spectrum disorder (ASD) refers to a neurodevelopmental disorder impacting social behaviour, communication, and social interaction. Causes Exact cause is not fully understood. Risk factors Biological male sexFamily historyMedical conditions like fragile X syndrome, Rett syndrome, or tuberous sclerosisBabies born prior to 26 weeks of gestationBeing born to older parents Symptoms No attention to auditory stimulus during infancyLack of verbal and non-verbal communicationRepetitive behavioursRestricted interestsLack of peer interactionSensory sensitivitiesResistance to change of environment. Specialist to approach Neurologist Diagnosis Clinical assessment with various scales available to diagnose ASDMRI brain and EEG to rule out acquired causes Treatment Cognitive and behavioural therapiesOccupational therapiesTo provide inclusive environment Read more about Autism Filter Alphabet A
Athetosis Athetosis Home A Overview Athetosis is a disorder that involves hyperkinetic movements, which is a slow writhing movement of fingers and hands. It may be associated with abnormal postures of the extremities, stiffness and difficulty in performing voluntary movements. Causes Brain injuryStrokeCerebral palsyNeurodegenerative diseases such as Huntington’s diseaseInfections or inflammationsGenetic disorders Risk factors Brain damageBirth challenges such as asphyxia, haemorrhage, or stroke during pregnancy, birth, or shortly after birthJaundice in newbornsStrokeMedications for Parkinson's disease or psychiatric disordersToxicity due to medications that elevate brain dopamine levelsMetabolic disorders such as Wilson's disease Treatment Medicines to control muscle overactivitySurgical interventions (deep brain stimulation)Orthotic devices or other assistive technologiesPhysical and occupational therapy Read more about Athetosis Filter Alphabet A