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Good afternoon colleagues. I am Dr Diyanah Solomon, an endocrinologist in Groot te Schuur hospital. I am thrilled to be working with all of you on this patient's case and I hope we can find a viable solution together. 

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Good afternoon colleagues. I am Dr Diyanah Solomon, an endocrinologist in Groot te Schuur hospital. I am thrilled to be working with all of you on this patient's case and I hope we can find a viable solution together. 

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Hello everyone,

My name is Dr. Vuillemin, I am a neurologist and am looking forward to collaborating with you all in managing our young patient with Fabry disease.

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This disease increases the chances of the patient getting diabetes, because of this i suggest insulin therapy. Let me know what you think of this.

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Neurological Treatment Considerations for Fabry Disease

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Neurological Treatment Considerations for Fabry Disease

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As a neurologist, my role in treating a child with Fabry Disease focuses on managing neurological complications that arise due to the progressive accumulation of globotriaosylceramide (Gb3) in the nervous system.

1. Neuropathic Pain Management

Fabry Disease often presents with severe neuropathic pain, particularly in the hands and feet (acroparesthesias). Pain episodes can be triggered by stress, exercise, temperature changes, and fatigue.

2. Enzyme Replacement Therapy (ERT)

Fabry Disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A. ERT aims to replace this enzyme and slow disease progression.

3. Stroke Prevention and Cerebrovascular Management

Patients with Fabry Disease have an increased risk of strokes and TIAs due to vascular endothelial dysfunction and Gb3 deposition in small cerebral arteries.

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enzyme replacements - pro for cardiac factors 

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enzyme replacements - pro for cardiac factors 

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Enzyme Replacement Therapy (ERT):

Purpose: ERT is the cornerstone of treatment for Fabry disease, aimed at reducing the buildup of globotriaosylceramide (GL-3) in the heart and other organs. By providing the missing enzyme (alpha-galactosidase A), ERT helps break down the accumulated substrate and prevents further damage to the heart muscle.

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Good morning, everyone. My name is Dr. Dineo Clark, and I’m a Paediatrician from the University of Cape Town, specializing in inherited metabolic disorders. My role is to ensure that our young patients receive comprehensive care that addresses both their immediate symptoms and the long-term management of their condition. In the case of our patient with Fabry disease, my focus will be on monitoring progression of this disease, managing symptoms like pain and gastrointestinal issues, while coordinating with all of you to provide the best treatment plan possible. I’d like to pose a question to the team: What are the earliest paediatric symptoms of Fabry disease, and how can we differentiate them from more common childhood conditions?

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Hello, I’m Dr. Milne, a cardiologist from the heart of Cape town specializing in genetic cardiovascular conditions. My work explores the diagnosing and treatment of heart diseases , with a particular focus on genetic disorders like Fabry disease.

I am responsible for identifying these issues related to the diseases early, helping patients manage heart-related symptoms and being proactive in preventing long-term damage.

I work alongside a team of highly qualified specialists who all contribute in providing comprehensive care to patients. this set of doctors offer services like advanced imaging, genetic testing, and enzyme replacement therapy, to address both heart health and the broader impact of the disease.

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a white young lady who is a cardiologist and has dark curly hair around shoulder length

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With this treatment option I would need to first check the patient's thyroid levels (TSH) and prescribe levothyroxine is hypothyroidism is present.

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Fabry disease is an inherited disorder that results from the buildup of a type of fat, called globotriaosylceramide, in the body’s cells. Explore symptoms, inheritance, genetics of this condition.

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Cardiac Medications:

Beta-Blockers: These can be used to manage symptoms of heart failure, particularly diastolic heart failure (when the heart has trouble relaxing and filling with blood). They can also help control blood pressure, which is important in reducing strain on the heart.

ACE Inhibitors: Angiotensin-converting enzyme (ACE) inhibitors can help reduce blood pressure and prevent further damage to the heart, especially in patients with LVH or heart failure.

Anti-arrhythmic Drugs: These medications are used to manage arrhythmias (abnormal heart rhythms) that may occur due to Fabry disease. They can help reduce the risk of sudden cardiac events and stroke.

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What is Fabry Disease?

Fabry disease is a rare, inherited genetic disorder caused by a deficiency or absence of an enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down a specific fatty substance known as globotriaosylceramide (GL-3). Without enough of this enzyme, GL-3 accumulates in various cells and tissues throughout the body, leading to progressive damage to multiple organs.

Fabry disease is an X-linked genetic condition, meaning it is most commonly passed from mother to child, with males typically experiencing more severe symptoms due to having only one X chromosome. Women, who have two X chromosomes, may also be affected but often experience milder symptoms, although this can vary widely.

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One of the earliest symptoms in childhood is the appearance of angiokeratomas, small, dark red or purple spots on the skin. These spots are often found in areas such as the lower back, buttocks, and thighs. These lesions are not harmful but can be uncomfortable or distressing.

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Comprehensive Treatment Plan for a Child with Fabry Disease

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Comprehensive Treatment Plan for a Child with Fabry Disease

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1. Enzyme Replacement Therapy (ERT):

- Pegunigalsidase alfa (Elfabrio): Administered intravenously every two weeks, this recombinant enzyme replaces deficient α-galactosidase A, reducing globotriaosylceramide accumulation. citeturn0search1

2. Pharmacological Chaperone Therapy:

- Migalastat (Galafold): An oral medication that stabilizes specific mutant forms of α-galactosidase A, enhancing its function. Suitable for patients with amenable mutations. citeturn0search3

3. Symptom Management:

- Pain Management: Utilize anticonvulsants (e.g., gabapentin, pregabalin) and antidepressants (e.g., amitriptyline) to address neuropathic pain.

- Cardiac Care: Regular cardiac evaluations to monitor for arrhythmias or cardiomyopathy. Implement standard heart failure treatments as necessary.

- Renal Support: Monitor kidney function periodically. Initiate interventions like ACE inhibitors or dialysis if renal impairment progresses.

4. Lifestyle and Supportive Measures:

- Physical Therapy: Engage in tailored exercise programs to maintain mobility and alleviate pain.

- Psychological Support: Provide counseling to help patients and families cope with chronic disease challenges.

5. Monitoring and Follow-Up:

- Regular Assessments: Conduct routine evaluations of cardiac, renal, and neurological functions to detect and address complications promptly.

6. Genetic Counseling:

- Family Planning: Offer genetic counseling to discuss inheritance patterns, risks to family members, and reproductive options.

This integrated approach, combining disease-specific treatments with supportive care, aims to enhance quality of life and mitigate disease progression in pediatric Fabry disease patients.

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Patients often experience acute episodes of pain (known as Fabry crises), which can affect the hands, feet, and other extremities. This pain is caused by nerve damage and can range from mild discomfort to severe, debilitating pain. Many patients also experience burning sensations and tingling (neuropathy), which can worsen over time.

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The buildup of GL-3 in the heart can lead to several serious cardiac issues:

Left Ventricular Hypertrophy (LVH): The walls of the heart’s left ventricle thicken, which can make it harder for the heart to pump blood effectively. If untreated, this can progress to heart failure.

Arrhythmias: Abnormal heart rhythms are common, and patients may experience atrial fibrillation or ventricular arrhythmias, which can increase the risk of stroke or sudden cardiac death.

Coronary Artery Disease: GL-3 accumulation can contribute to atherosclerosis (narrowing of the arteries), increasing the risk of heart attacks.

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The kidneys are frequently affected by Fabry disease, with kidney damage leading to proteinuria (protein in the urine) and potentially progressing to kidney failure. This can require dialysis or a kidney transplant in severe cases.

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Patients with Fabry disease often develop corneal opacities (cloudiness in the eye’s cornea), which can cause visual disturbances, though these generally do not affect vision significantly. However, the condition can lead to retinal damage and contribute to vision problems over time.

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Neurological symptoms may include dizziness, tinnitus (ringing in the ears), and strokes. Patients can also experience cognitive challenges and mental health issues like depression due to the chronic nature of the disease and the burden of managing symptoms.

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Progressive hearing loss is another potential complication due to the buildup of GL-3 in the inner ear.

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Managing pain and gastrointestinal issues.

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Managing pain and gastrointestinal issues.

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Our patient may experience chronic diarrhoea or abdominal pain due to autonomic dysfunction so we should consider dietary modifications and probiotics. Neuropathic pain is a significant issue in Fabry disease so we should use neuropathic pain medications such as gabapentin or pregabalin.

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Response to managing diabetes for Fabry disease 

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Response to managing diabetes for Fabry disease 

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Good point, Dr. Diyanah. Fabry Disease increases metabolic risk, but insulin isn't always the first-line approach. Given its neurological effects, I’d consider alternatives like GLP-1 agonists if needed. Endocrinology input would be valuable. Let’s discuss further.

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