GAUCHER

RARE-DISEASE

The Role of Pediatrician in Gaucher Disease

Gaucher Disease is the most common lysosomal storage disorder. It is usually underdiagnosed due to its wide clinical spectrum. Physicians should have high index of suspicious for GD diagnosis in any patient with splenomegaly/Hepatology with thrombocytopenia. Early enzyme replacement therapy is a cornerstone to prevent and reverse disease complications.

Determine&nbsp;independent ECG&nbsp;predictors of AFD

Validate an ECG scoring system&nbsp;for differential diagnosis of AFD

<table align="center" border="1" cellpadding="1" cellspacing="1" style="width:1000px;">
 <tbody>
 <tr>
 <td rowspan="13">
 <h3 style="text-align: center;">Score calculation</h3></td>
 <td colspan="1" rowspan="3" style="text-align: center;">PR interval</td>
 <td style="text-align: center;">&lt;120 ms</td>
 <td style="text-align: center;">1</td>
 </tr>
 <tr>
 <td style="text-align: center;">120- 199 ms</td>
 <td style="text-align: center;">0</td>
 </tr>
 <tr>
 <td style="text-align: center;">≥200 ms</td>
 <td style="text-align: center;">2</td>
 </tr>
 <tr>
 <td colspan="1" rowspan="4" style="text-align: center;">QRS duration</td>
 <td style="text-align: center;">&lt;100 ms</td>
 <td style="text-align: center;">0</td>
 </tr>
 <tr>
 <td style="text-align: center;">100–119 ms</td>
 <td style="text-align: center;">1</td>
 </tr>
 <tr>
 <td style="text-align: center;">120–139 ms</td>
 <td style="text-align: center;">2</td>
 </tr>
 <tr>
 <td style="text-align: center;">≥140 ms</td>
 <td style="text-align: center;">3</td>
 </tr>
 <tr>
 <td colspan="1" rowspan="2" style="text-align: center;">RBBB (complete and incomplete)</td>
 <td style="text-align: center;">Yes</td>
 <td style="text-align: center;">2</td>
 </tr>
 <tr>
 <td style="text-align: center;">No</td>
 <td style="text-align: center;">0</td>
 </tr>
 <tr>
 <td colspan="1" rowspan="2" style="text-align: center;">R in aVL ≥11 mV</td>
 <td style="text-align: center;">Yes</td>
 <td style="text-align: center;">1</td>
 </tr>
 <tr>
 <td style="text-align: center;">No</td>
 <td style="text-align: center;">0</td>
 </tr>
 <tr>
 <td colspan="1" rowspan="2" style="text-align: center;">Inferior ST-segment depression</td>
 <td style="text-align: center;">Yes</td>
 <td style="text-align: center;">3</td>
 </tr>
 <tr>
 <td>
 No</td>
 <td style="text-align: center;">0</td>
 </tr>
 </tbody>
</table>

<h3 style="text-align: center;">Algorithm for step-by–step analysis of the ECG for AFD</h3>

Independent predictors of AFD diagnosis

black

Good 
 diagnostic performance

Providing clinical and therapeutic implications

AFD: Anderson–Fabry disease; aVF: Augmented vector foot; aVL: Augmented vector left; ECG: Electrocardiogram; HCM: Hypertrophic cardiomyopathy; LVH: Left ventricular hypertrophy; MS: Millisecond; mV: Millivolt; RBBB: Right bundle branch block.

Reference

ROLE OF ECG IN DIFFERENTIAL DIAGNOSIS OF ANDERSON–FABRY DISEASE WITH HCM

FABRY

ACID-SPHINGOMYLENASE-DEFICIENCY-NIEMANN-PICK

Respiratory Impairment in Acid Sphingomyelinase Deficiency (ASMD): A Case Report.

Acid sphingomyelinase deficiency (ASMD), also called Niemann-Pick disease, is a lysosomal storage disorder with some pulmonary involvement in adults. However, the disease may evolve towards clinically relevant respiratory symptoms that require referral to the pulmonologist for management. Based on two case reports illustrating respiratory impairment, the aim of this video which is based on a published case report is to review clinical features, diagnosis, respiratory prognostic and therapeutics for the pulmonologist.

<h2>Episode 1:</h2>
Can you describe the typical journey a patient might experience from the onset of symptoms to receiving a diagnosis of Pompe disease?
04:26 min

<h2>Episode 2</h2>
What are the biggest challenges faced when diagnosing rare diseases like Pompe disease, and how can these be overcome?
02:33 min

<h2>Episode 3</h2>
Early diagnosis is crucial for managing Pompe disease. What strategies or technologies are emerging to help identify this condition sooner?
02:14 min

<h2>Episode 4</h2>
In your experience, what are the most effective ways to support patients and families coping with the diagnosis of a rare disease?
01:50 min

<h2>Episode 5</h2>
There’s often a social stigma associated with genetic disorders. What message would you like to convey to the community to foster understanding and support for those affected by Pompe disease?
02:37 min

Welcome to Pompe Care podcast series, today’s episodes we speak to Dr. Amal Al Teneiji, Metabolic Genetics Consultant at Sheikh Khalifa Medical City Abu Dhabi, about Pompe disease. We talk about typical diagnosis of patient journey, challenges facing, new diagnostic technologies, effective ways to support patients and families and social stigma.

POMPE

Pompe Care Podcast Series

Management of ASMD - Expert opinion: Professor Tawfeq Ben Omran

Professor Tawfeq explains the benefits of the ERT Olipudase Alfa on patients diagnosed with ASMD.

Inspiring Stories of Patients Living with ASMD

ASMD is associated with a high burden of disease that may limit physical, mental, and psychosocial well-being. A patient’s experience may include: Frequent hospitalizations, medications for symptomatic care, medical procedures, and increased need for medical devices. Reduced physical activity and difficulty navigating obligations at school, work, and in personal relationships. Watch those videos and know more about those patients’ stories.

Early diagnosis and management of IOPD

Diagnostic challenges of LOPD

Diagnostic Algorithm for Gaucher Disease in Pediatric

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