OTHER-RARE-DISEASE-TOPICS

RARE-DISEASE

Multidisciplinary approaches in Rare Disease Patient management in KSA

Summary of the Presentation:&nbsp;
Interviewed by Dr. Nawal Makhseed, Ms. Amal tolba, the Founder and managing director of HOPE AMC, Dubai, UAE speaks about what the rehabilitation setup should include to succeed.

Short Biography of the speaker:
Ms. Wijdan Ahmed (KSA)
Advanced Clinical Specialist and Team Manager, Medical Genetics Clinic, King Faisal Specialist Hospital and Research Centre, KSA.

Lysosomal Storage Diseases from Neurology Perspective

In this video, Dr. Dina Saleh is sharing information about lysosomal storage diseases but this time, it is from neurologist perspective.

LSDs overview

Summary of the Presentation:&nbsp;
LSDs are a diverse group of diseases result from enzyme deficiencies lead to defects in lysosomal function. There are more than 50 inherited LSDs, collective incidence as high as 1:4000. Mostly inherited as autosomal recessive, thus LSDs are more prevalent in consanguineous populations. Early diagnosis is important to start the treatment and prevent complications. In this video Dr. Tawfeg will discuss the diagnosis and management of LSD, including how to recognize the common red flag symptoms and signs of LSDs.
In this video, Prof. Tawfeg Ben Omran discusses how could we diagnose and manage the lysosomal storage disorders (LSDs)

Short Biography of the speaker:
Dr. Tawfeg Ben Omran Biography:
Dr. Ben-Omran received his speciality training in clinical &amp; metabolic genetics at the Hospital for Sick Children, University of Toronto, Canada. He has obtained both FRCPS &amp; FCCMG in Medical Genetics in 2006. Currently, he is a senior consultant and Head of Clinical and Metabolic Genetics at Hamad Medical Corporation. He is an Associate Professor at Weill Cornell Medical College, Qatar &amp; New York-USA. He is also a Distinguished Visiting Scientist at Boston Children’s Hospital-USA.
He contributes to the body of published knowledge in clinical and metabolic genetics, with over 60 published articles in peer reviewed journals, book chapters and abstracts. He is reviewer for many clinical genetics journals.
He is an active clinical researcher, collaborating on projects with local, regional &amp; international communities. He is a lead primary investigator in many high profile research projects &amp; clinical trials to evaluate the long-term effects of enzyme replacement therapy in patients with different lysosomal storage disorders. His main scientific interests include genetics of brain malformation&amp; microcephaly, white matter disorders, dysmorphology, autosomal recessive disorders. In addition, Dr. Ben-Omran is an external advisor and expert for E-HOD (European registry and network for homocystinurias and methylation defects).
He is recognized as an expert in genetic disorders of the Arab population. His national &amp; international presence is clear. In 2013, he received the "Princess Aljawhara Center Award for The Best Research in Basic Genetics" the most competitive &amp; prestigious awards. He received Research Award from MRC-HMC for Homocystinuria project and Stars of Excellence Award 2011 for both Pioneering Newborn Screening &amp; specialized care of Genetic Diseases in the Middle East. Recently, awarded the Stars of Excellence in research 2014: Cutting Edge of Research in Medical Genetics.
He has memberships in many societies including: American Society of Human Genetics, European Society of Human Genetics, Society for the Study of Inborn Errors of Metabolism, Middle East Metabolic Genetic Group, the Middle East &amp; North Africa Newborn Screening Initiative, Middle Eastern Lysosomal Storage Diseases Expert Council Advisory Board, Child Health Research Advisory Committee, International Society for Prenatal Diagnosis, Chairman of Middle East Metabolic Dieticians Group &amp; Founder Member &amp; Regional Representative of SSIEM Adult Metabolic Physicians Group.

POMPE

IOPD Challenges

Dr. Nadia AlHashmi, metabolic and clinical genetic consultant at child health department of Royal Hospital, Muscat, Oman, is sharing a real experience of the journey of one of her IOPD patients, starting with early manifestations and suffering, through different challenges of diagnosis and management, till current status and case progression, giving some key learnings for better management of IOPD and a hope for a better life for all IOPD patients.

<h2>ASMD types A/B and B: Manifestations progress less rapidly than in type A and may include any combination of the following1</h2>
Hepatomegaly is seen in &gt;70% of patients1,2* 
 Symptoms of hepatomegaly include enlarged abdomen and abdominal pain1,3

<ul>
 <li>Hepatomegaly</li>
 <li>Fibrosis and cirrhosis</li>
 <li>Dyslipidemia</li>
</ul>

LIVER

black

<ul>
 <li>Severe abnormalities (cognitive impairment, loss of motor function, etc)</li>
 <li>Hypotonia/hyporeflexia</li>
</ul>

NEUROLOGIC

<ul>
 <li>Splenomegaly (can be up to 30 times normal size)</li>
 <li>Pain, pressure, and early satiety due to enlarged spleen</li>
</ul>

SPLEEN

<ul>
 <li>Coronary artery or heart valve disease</li>
</ul>

CARDIAC

<ul>
 <li>Interstitial lung disease (ILD)</li>
 <li>Respiratory infections, including pneumonia</li>
 <li>Shortness of breath and chronic fatigue</li>
</ul>

LUNGS

<ul>
 <li>Back, limb, and/or joint pain</li>
 <li>Pathologic fractures</li>
 <li>Osteopenia</li>
 <li>Osteoporosis in adults</li>
</ul>

SKELETAL

<ul>
 <li>Thrombocytopenia</li>
 <li>Excessive bleeding and easy bruising</li>
 <li>Anemia</li>
 <li>Leukopenia</li>
</ul>

HEMATOLOGIC

<ul>
 <li>Growth delay and puberty delay in adolescents, with adult heights in the low-normal range</li>
 <li>Excessive bleeding and easy bruising</li>
 <li>Delays in reaching developmental milestones in children</li>
 <li>Learning disabilities, changes in behavior, and/or loss of mobility and coordination</li>
</ul>

GROWTH AND DEVELOPMENT

*Symptom prevalence data for hepatomegaly is only for patients with ASMD type B.

References

Potential Hepatic Manifestations of ASMD Often Overlap&nbsp;With Hepatic Disorders and Other&nbsp;Lysosomal Storage&nbsp;Diseases1&nbsp;
<table border="1" cellpadding="1" cellspacing="1" style="width:100%;">
 <tbody>
 <tr>
 <td style="width: 20%;">Potential hepatic symptoms of ASMD</td>
 <td style="text-align: center; width: 18%;">Hepatomegaly</td>
 <td style="text-align: center; width: 16%;">Elevated hepatic enzymes</td>
 <td style="text-align: center; width: 15%;">Fibrosis/ 
 cirrhosis</td>
 <td style="text-align: center; width: 15%;">Hepatic failure</td>
 <td style="text-align: center; width: 16%;">Portal hypertension</td>
 </tr>
 <tr>
 <td style="width: 20%;">ASMD1</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Chronic hepatitis B1-3</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Nonalcoholic fatty liver disease4,5</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Cryptogenic cirrhosis1,6,7</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔*</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Niemann-Pick disease type C1,8,9</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Lysosomal acid lipase deficiency1,10,11&nbsp;</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 <tr>
 <td style="width: 20%;">Gaucher disease1,12,13</td>
 <td style="width: 18%; text-align: center;">✔</td>
 <td style="width: 16%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔</td>
 <td style="width: 15%; text-align: center;">✔†</td>
 <td style="width: 16%; text-align: center;">✔</td>
 </tr>
 </tbody>
</table>
*Aminotransferase levels, such as AST and ALT, are typically only mildly elevated or normal in those with cryptogenic cirrhosis.6 †Development of end-stage liver disease is rare with Gaucher disease and tends to include the associated complications of hepatic decompensation.12 
 ALT=alanine aminotransferase; ASMD=acid sphingomyelinase deficiency; AST=aspartate aminotransferase.

What Are the Signs and Symptoms of ASMD?

ACID-SPHINGOMYLENASE-DEFICIENCY-NIEMANN-PICK

Welcome to UNCOVER ASMD GAUCHER podcast series where we talk about typical diagnosis of patient journey, challenges facing, new diagnostic technologies, effective ways to support patients and families and social stigma

<h3>Episode 1: ASMD &amp; Gaucher Disease</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

Uncover ASMD and GAUCHER

<h3>Episode 2: Similarities and Differences between Gaucher &amp; ASMD</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

<h3>Episode 3: Challenges in diagnosing of Gaucher and ASMD</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

<h3>Episode 4: Management of ASMD Gaucher Disease</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

<h3>Episode 5: Gaucher and ASMD from the patient`s eyes</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

<h3>Episode 6: Raising Awareness and Education and the role of the society</h3>
Listen to Dr. Nuha AlZaabi 
 Metabolic geneticist consultant-Fujairah Hospital, EHS. UAE

GAUCHER

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

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

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.

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