Hereditary Neuropathy with Pressure Palsies (HNPP)

Management Team

Hereditary Neuropathy with Pressure Palsies (HNPP)

Overview

HNPP is a neurological disorder, which is autosomal dominant inherited, with an increased tendency for nerve compression at common compression sites like elbow and fibular head.

Caused due to mutation in PMP22 gene

Inheriting the mutated PMP22 gene from a parent

  • Weakness such as wrist drop/ foot drop/ weakness of small muscles of hand after prolonged posturing
  • Tingling/ numbness/ pain
  • Atrophy of muscles
  • Loss of sensation
  • The weakness may persist for a few weeks or may become permanent

  • Nerve conduction studies for site and severity of nerve compression
  • MR neurography
  • Nerve biopsy (rarely required)
  • Genetic testing

Neurologist

  • Short course of steroids may be warranted
  • Orthosis and assistive devices
  • Physiotherapy
  • Avoidance of compression at common sites prone for nerve injury
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Hemianopia

Management Team

Hemianopia

Overview

Hemianopia means loss of field of vision on one side (right/ left). The patient cannot see the objects on the affected side.

  • Traumatic brain injuries
  • Epilepsy
  • Brain tumours
  • Lymphoma
  • Alzheimer’s disease
  • Dementia
  • Hydrocephalus
  • Multiple sclerosis
  • High brain pressure
  • Carotid artery aneurysms
  • Shaken baby syndrome

  • Brain inflammation or infection (for e.g., neurosyphilis or encephalitis)
  • Brain tumours/lesions
  • Traumatic brain injuries
  • Concussions
  • Seizures and epilepsy
  • Degenerative brain diseases like Alzheimer’s disease or Creutzfeldt-Jakob disease
  • Metabolic conditions or effects, like low blood sugar
  • Inflammatory and autoimmune conditions (neuromyelitis optica or multiple sclerosis)
  • Migraines (especially with auras)

Partial loss of vision

  • Clinical examination
  • Perimetry
  • MRI brain

  • Homonymous hemianopia - Caused by stroke, tumour
  • Bitemporal hemianopia- In patients with pituitary adenoma and craniopharyngioma patients
  • Inferior quadrantanopia- In stroke and tumour patients
  • Superior quadrantanopia- Caused by stroke, tumour
  • Binasal hemianopia - In patients with bilateral internal carotid artery aneurysms
  • Bilateral scotomas- In patients with head injury
  • Junctional scotoma- In patients harbouring tumours

Neurologist

  • Treatment of underlying cause.
  • Repetitive visual stimulation for affected side
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Headache

Management Team

Headache

Overview

Headache is a prevalent condition, presented with pain or discomfort in the head and neck region. Most chronic headaches are vascular in nature and typically not life-threatening.

  • Acute severe headache which has never happened in past (acute thunderclap headache)
  • Change in character/ severity/ location of headache
  • Headache associated with focal neurological signs like weakness/ visual disturbances
  • Headache along with loss of consciousness/ seizures
  • New onset headache in elderly
  • Headache worsening while leaning forward or straining

  • Tension type headache
  • Sinus headache
  • Migraine
  • Rebound headache (due to overuse of pain medication)
  • Cluster headache
  • Idiopathic intracranial hypertension
  • Mixed headache as in combination of tension type headache and migraine

  • Mass lesion in brain like tumour or granuloma
  • Head injury
  • Intracranial or subdural haemorrhage
  • Meningitis/ encephalitis/ other CNS infections
  • Raised intracranial pressure due to brain swelling
  • Vasculitis/ other inflammatory disorders of CNS

  • Sex
  • Body mass index (BMI)
  • Smoking
  • Family history
  • Climate
  • Excessive caffeine consumption
  • Age
  • Overuse of medication
  • Psychiatric comorbidities (e.g., anxiety, insomnia, and depression)
  • Occipital spur
  • Chronic dehydration
  • Temporomandibular disorders

Neurologist

  • History and clinical examination
  • Fundus examination to check for signs of raised intracranial pressure
  • MRI/ CT head whenever required

  • Supportive- rest, pain abortive medications like paracetamol, naproxen depending on cause of headache
  • Prophylactic medication- on a regular basis
  • Specific treatment- CSF drainage/ removal of lesion depending on aetiology
  • Lifestyle changes and avoidance of precipitating factors
  • Botulinum injection in specific cases
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Hepatocellular Carcinoma (HCC)

Management Team

Hepatocellular Carcinoma (HCC)

Overview

Hepatocellular carcinoma (HCC) is the most common type of liver cancer. It generally occurs as result of abnormal growth of hepatocytes—the liver's main cells—and often develops in the background of chronic liver disease or cirrhosis. The prognosis for HCC (disease outcome, e.g., cure, relapse, etc.) depends on factors such as tumour size, liver function, presence of metastasis, and the underlying liver disease. Early stage HCC has a better prognosis, particularly if treated with surgery (or a liver transplant). Advanced HCC has a poorer prognosis, but new systemic therapies have improved the treatment outcomes in some patients.

Several factors increase the risk of developing HCC; these include:

  • Chronic viral hepatitis: Hepatitis B virus (HBV) and Hepatitis C virus (HCV) infections are the leading causes of HCC worldwide, particularly in regions with high prevalence of these viruses.
  • Cirrhosis: ALD and N/AFLD—both leading to cirrhosis—are significant risk factors.
  • Aflatoxin exposure: Exposure to aflatoxins (produced by certain moulds found in poorly stored grains and nuts) can increase the risk of HCC, especially in regions like sub-Saharan Africa and Southeast Asia.
  • Metabolic disorders: Conditions like hemochromatosis (iron overload), alpha-1 antitrypsin deficiency, and Wilson's disease can increase HCC risk.
  • Obesity and type 2 diabetes: Obesity and diabetes often contribute to the development of N/AFLD, which in turn increases HCC risk.
  • Family history: A family history of liver cancer or inherited liver diseases may increase HCC risk.
  • Age and gender: HCC is more common in older adults and is more frequent in men than in women.
  • Smoking: Smoking can increase the likelihood of developing HCC, particularly in individuals with preexisting liver disease.

In early stages, the symptoms of HCC may be apparent, but as the disease progresses, symptoms can become apparent; these include:

  • Abdominal pain or discomfort (especially in the upper right side of the abdomen).
  • Unexplained weight loss
  • Loss of appetite
  • Jaundice
  • Fatigue
  • Swelling of the abdomen (due to fluid buildup)
  • Nausea and vomiting
  • Fever
  • Easy bruising or bleeding (due to liver dysfunction)

HCC is typically diagnosed through a combination of clinical, imaging, and laboratory tests; these include:

  • Imaging studies:
    • Ultrasound: This is generally the first imaging modality to be used to detect liver masses (tumours).
    • CT or MRI: These provide detailed information about tumour size and location and extent of cancer spread.
    • Contrast-enhanced imaging (CT/MRI): This imaging modality can help differentiate HCC from benign (non-cancerous) lesions.
  • Blood tests:
    • Alpha-fetoprotein (AFP): Elevated levels of AFP can indicate HCC; however, it should be noted that other cancers can also elevate AFP levels.
    • Liver function tests: Individuals with damaged livers (including those with cancer) have elevated levels of ALT, AST, ALP, and bilirubin and low albumin levels.
    • Hepatitis markers: If a patient has a history of hepatitis, testing for HBV and HCV is important.
  • Liver biopsy: A biopsy, though less commonly performed, may be done if imaging findings are inconclusive or if there is uncertainty in diagnosis.
  • Endoscopy: In cases where cirrhosis is present, an endoscopy may be done to check for varices or signs of liver damage.

The treatment of HCC depends on the stage of the cancer, liver function, and the patient’s overall health. Treatment options include:

  • Surgical treatment:
    • Liver resection: Tumour-removal surgery may be an option if the tumour is confined to a particular part of the liver and the liver function is normal.
    • Liver transplantation: For patients with cirrhosis or large tumours, liver transplantation may be considered as severe liver and liver failure are a reality in these patients.
  • Ablation therapy: This is an umbrella term to describe minimally invasive surgical procedures (involving the use of very tiny cuts to perform surgery) that destroy small tumours.
    • Percutaneous ethanol injection (PEI)
    • Radiofrequency ablation (RFA)
  • Transarterial chemoembolization (TACE): TACE is used for patients who are not candidates for surgery. It involves delivering chemotherapy directly to the tumour while blocking the blood supply.
  • Systemic therapies: These therapies generally affect the entire body.
    • Targeted therapy: Drugs like sorafenib or lenvatinib that target cancer cell growth may be used for advanced HCC.
    • Immunotherapy: Drugs such as nivolumab or pembrolizumab (immune checkpoint inhibitors) have shown effectiveness in some patients with advanced or metastatic HCC.
    • Radiation therapy: In some cases, an external beam of radiation may be used to kill cancer cells, particularly when other treatments are not suitable.
    • Chemotherapy: Chemotherapy is generally not effective for HCC, so it is rarely used.
  • Palliative care: For advanced cases of HCC, the treatment focuses on relieving symptoms, improving quality of life, and managing complications like ascites or bleeding.

Strategies to prevent HCC occurrence include:

  • Vaccination against Hepatitis B virus.
  • Screening for liver disease in at-risk populations (e.g., patients with hepatitis B, hepatitis C, or cirrhosis).
  • Managing chronic liver disease (avoiding alcohol, controlling obesity, and treating hepatitis).
  • Healthy lifestyle choices (maintaining a healthy weight, avoiding tobacco, and managing diabetes).
  • Regular screening (e.g., ultrasound and AFP levels) for individuals at high risk of HCC.
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Hydronephrosis

Management Team

Hydronephrosis

Overview

Hydronephrosis is a condition characterised by obstruction to urine flow from the kidney, leading to backpressure changes, swelling, and dilation of the ureter and renal pelvis (the pathway connecting the kidneys to the bladder). This swelling exerts pressure on kidney tissue, causing renal dysfunction. If left untreated or chronic, it may lead to permanent kidney.

Hydronephrosis is caused by various obstructions in the urinary tract. Common causes include:

  • Kidney stones: Obstructing urine flow in the ureter.
  • Congenital abnormalities: Structural defects in the urinary tract present from birth.
  • Tumours or strictures: Narrowing or masses that block urine passage.
  • Pregnancy: Compression of the ureters due to growing uterus.

Hydronephrosis symptoms vary depending on the severity and cause of the obstruction. These include:

  • Acute presentation: Sudden flank pain due to kidney stones getting impacted in the ureter, often accompanied by haematuria (blood in urine). This may be associated with haematuria.
  • Infections: Fever, abdominal pain, and discomfort, indicating infection in the kidney tissue.
  • Chronic obstruction: Long-standing issues of the kidney tract such as long-standing renal stones/ congenital obstruction of some part of the urinary tract. It may be completely asymptomatic and detected incidentally during imaging studies for unrelated reasons.

It is advisable to consult a kidney specialist (Nephrologist) or a kidney surgeon (Urologist) to ensure appropriate evaluation and management.

Diagnosing hydronephrosis involves:

  • Imaging studies: Ultrasound or CT scan of the abdomen to detect swelling and obstruction.
  • Urine tests: To identify infections or other abnormalities.
  • Blood tests: Renal function tests to assess renal function test.

Treatment depends on the underlying cause and severity of hydronephrosis:

  • Surgical intervention: Surgical intervention is used to remove obstructions such as kidney stones or correct structural abnormalities.
  • IV antibiotics: IV antibiotics are used to treat associated infections.
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Hirsutism

Management Team

Hirsutism

Overview

Hirsutism is a condition observed in women characterised by excessive growth of hair in areas where men typically grow terminal hair, such as the face, back, and chest region.

  • Idiopathic hirsutism: No identifiable cause.
  • Secondary hirsutism: Caused by underlying conditions like polycystic ovary syndrome (PCOS).

Coarse, dark hair growth in a male pattern.

  • Elevated androgen levels
  • PCOS
  • Adrenal gland disorders
  • Certain medications

Blood tests for measuring hormone levels and ultrasonography or CT.

  • Medications (oral contraceptives and anti-androgens)
  • Laser hair removal (Harmony XL Pro)
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Hair Thinning and Hair Loss

Management Team

Hair Thinning and Hair Loss

Overview

Hair thinning and hair loss have an effect on men and women both and can cause reduced hair density and bald patches.

  • Androgenetic alopecia: This is a prevalent form of hair loss seen in both men and women. It is often referred to as "male pattern baldness" in men and "female pattern hair loss" in women. In men, hair loss follows a defined pattern, originating above the temples and gradually receding to form a characteristic "M" shape. Thinning also occurs at the top of the head, which may lead to partial or complete baldness over time. In women, thinning occurs primarily at the top of the head, with a widening of the middle part. The hairline generally remains intact and does not recede. Complete baldness is rare in women with androgenetic alopecia.
  • Telogen effluvium: This is a temporary type of hair loss affecting people who experience severe stress or a major change in their body, such as hormonal changes or illness. Hair thinning is observed, which is generally concentrated around the top of the head. 

  • Thinning hair
  • Receding hairline
  • Bald patches

  • Genetics
  • Hormonal changes
  • Stress
  • Nutritional deficiencies

Scalp examination and medical history by a dermatologist.

  • Hair loss treatment includes PRP therapy
  • Regenera Activa
  • Fair mesotherapy, based on the underlying cause. 
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Hyperdontia

Management Team

Hyperdontia

Overview

Hyperdontia refers to the presence of extra or supernumerary teeth. People with this condition may have one or many extra teeth, which may be visible or hidden (impacted), on one or both the jaws. Anyone can have hyperdontia, given that it affects both primary (baby) and permanent (adult) teeth.

Although the exact underlying causes of hyperdontia remain unclear, several factors that can may cause this condition have been identified:

  • Hyperactivity of the cells in the dental lamina (the cells responsible for tooth development)
  • Certain health conditions associated with hyperdontia, such as cleft lip and cleft palate, cleidocranial dysplasia, Fabry disease, Gardner syndrome, Down syndrome, and Ehlers-Danlos syndrome.
  • Atavism, i.e., the reappearance of an ancestral genetic trait. It is possible that our ancestors needed extra teeth to grind raw nuts and plants in their primitive diet.

The hallmark of hyperdontia is the presence of one or more extra teeth. Although this condition does not cause discomfort in most cases, the following symptoms may appear if the extra teeth put excessive pressure on the jaws or gums:

  • Pain, swelling, and/or tenderness in the gums and/or jaws
  • Overcrowding of teeth
  • Tooth infection

Depending on where the extra teeth are present, the following symptoms may also be noted:

  • Tooth impaction (the partial or complete trapping of a tooth within the jawbone).
  • Overcrowding of teeth
  • Crooked teeth
  • Difficulties with biting and chewing
  • Malocclusion (a bad bite)
  • Cavity formation, i.e., tooth decay
  • Gum disease
  • Formation of noncancerous oral cysts

Hyperdontia is often diagnosed during a routine examination. Dentists run X-ray or CT scans to ascertain the presence of impacted supernumerary teeth.

If supernumerary teeth are detected, the dentists examine whether they are causing any issues.

Timely diagnosis and treatment can greatly help reduce the risk of any long-term complications.

Although treatment for hyperdontia is not always needed, if the extra teeth interfere with the functioning and health of the oral cavity, removing them is advised. Dentists often recommend a tooth extraction under the following conditions: 

  • Pain or discomfort
  • Difficulty in chewing, eating, brushing, or flossing
  • The extra teeth make the patient conscious
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Hypodontia (Missing Teeth)

Management Team

Hypodontia (Missing Teeth)

Overview

Hypodontia is a type of dental agenesis, i.e., congenitally missing teeth. Specifically, hypodontia patients may have one to six missing teeth. About 2–8% of the general population has hypodontia. While hypodontia can occur in part of the oral cavity, the upper lateral incisors and the second and lower second premolars usually represent the most commonly missing teeth in patients with hypodontia.

  • Hypodontia is mostly a birth defect and passes down in the family. In patients with hypodontia, abnormalities in the dental lamina, i.e., the tissue underneath the gums where the teeth are formed, are observed.
  • Hypodontia may occur in association with certain syndromes. e.g., Crouzon syndrome, Williams syndrome, achondroplasia, orofaciodigital syndrome, and Rieger syndrome.
  • Hypodontia has also been observed alongside other conditions, such as low birth weight, genetic disorders (Down’s syndrome or ectodermal dysplasia), infectious diseases (candidiasis or rubella), or cleft palate/lip.
  • Hypodontia can also be caused by chemotherapy and radiation therapy.

  • Being born with one to six missing teeth at birth represents the most common symptom of this condition. Hypodontia can affect either the primary (baby) or permanent (adult) teeth anywhere within the oral cavity. The presence of peg-shaped teeth or teeth that are smaller than average can also been observed; patients may also present with gaps and spaces between the existing teeth.
  • Some hypodontia patients also display other symptoms characteristic of genetic disorders (such as ectodermal dysplasia), such as nail abnormalities, hair thinning, poor vision and hearing, and lack of sweat glands.
  • Difficulties in eating, chewing, and speaking are a common result of missing teeth.
  • Hypodontia may also damage the gums and impair the growth of the jawbone, which, in turn, can cause the jaw to be underdeveloped and appear smaller (than average).

Hypodontia can be diagnosed by the following:

  • Oral examination: Dentists may look for other symptoms of hypodontia (apart from missing teeth), such as the presence of gaps between existing teeth or peg-shaped teeth.
  • Dental X-rays: Dental X-rays may reveal the absence of tooth buds.

If a child’s primary teeth do not erupt by the age of 4 years or the permanent teeth do not appear by the age of 14, scheduling an appointment with a dentist is advised to address concerns about the child’s missing teeth.

Methods for treating hypodontia include: 

  • Application of orthodontic devices, such as braces.
  • Application of partial dentures (removable dental prostheses) for replacing missing teeth in the lower and/or upper jaw.
  • Application of dental bridges for replacing missing teeth by taking support from two adjacent teeth.
  • Application of dental implants (titanium-based screws) for replacing a missing tooth without any support from the adjacent teeth.

Until they are old enough to receive one or more of the aforementioned treatments, typically, children with hypodontia are advised to wear partial dentures.

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Heart Failure

Management Team

Heart Failure

  • It is a condition where the heart cannot not pump enough to move the blood forwards or it has trouble receiving blood
  • So, some parts of your body may not get enough blood and oxygen
  • Heart failure is a chronic problem. But it can be managed with medications to help improve symptoms

  • The heart has four chambers: two on its right side and two on its left
  • The right side of the heart receives blood from the whole body. This blood has a low oxygen and high carbon dioxide levels
  • The right side of the heart pumps this blood into the lungs for getting more oxygen and getting rid of excessive carbon dioxide
  • The purified blood comes to the left side of the heart and gets distributed in the whole body
  • This repeated pumping process is responsible for keeping us alive

  • High blood pressure
  • Heart problems
    • Valve defects
    • Rhythm disorder
    • Heart muscle defects
    • Other disorders of the heart
    • Coronary heart diseases
  • Lung problem
    • Poor blood supply to the lungs
    • Lung diseases like asthma, bronchitis, obstructed airways
    • High blood pressure in the lungs
  • Lifestyle
    • Failure to take preventive medication
    • Diet (excessive salt and fluid intake)
    • Alcohol and drug misuse
    • Smoking
  • Other medical conditions
    • Anaemia
    • Kidney diseases
    • Diabetes
    • Obesity
    • Thyroid

  • Breathlessness, tiredness, and swelling in certain parts of your body, like the feet, legs, arms and stomach
  • Other less common symptoms include stomach fullness, nausea, vomiting, dizziness, confusion and blacking-out/fainting
  • These symptoms can occur during activity or rest or even sleep

  • Ejection fraction (EF) is a measure of the blood that the left side of the heart pumps out with each beat
  • A normal EF is between 55% and 70%

  • If left untreated, heart failure gets worse and the symptoms will also get worse, requiring hospital admission for IV medications
  • Eventually, it will make your daily activities (like dressing and bathing) more difficult
  • It may also make you too tired to do things like spending time with friends and family

So, treatment is necessary to help you feel better and help keep your condition from getting worse

  • Complete clinical history and clinical examination
  • ECG, echocardiography and certain blood tests
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