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Article ; Online: Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?

Humphries, Steve E / Ramaswami, Uma / Hopper, Neil

2023 Volume 25, Issue 12, Page(s) 1083–1091

Abstract: Purpose of review: The UK National Health Service (NHS) has recently announced a Newborn Genomes Programme (NGP) to identify infants with treatable inherited disorders using whole genome sequencing (WGS). Here, we address, for familial ... ...

Abstract	Purpose of review: The UK National Health Service (NHS) has recently announced a Newborn Genomes Programme (NGP) to identify infants with treatable inherited disorders using whole genome sequencing (WGS). Here, we address, for familial hypercholesterolaemia (FH), the four principles that must be met for the inclusion of a disorder in the NGP. Recent findings: Principle A: There is strong evidence that the genetic variants causing FH can be reliably detected. Principle B: A high proportion of individuals who carry an FH-causing variant are likely to develop early heart disease if left undiagnosed and not offered appropriate treatment. Principle C: Early intervention has been shown to lead to substantially improved outcomes in children with FH. Principle D: The recommended interventions are equitably accessible for all. FH meets all the Wilson and Jungner criteria for inclusion in a screening programme, and it also meets all four principles and therefore should be included in the Newborn Genomes Programme.
MeSH term(s)	Child ; Infant, Newborn ; Humans ; Cholesterol, LDL ; State Medicine ; Hyperlipoproteinemia Type II/diagnosis ; Hyperlipoproteinemia Type II/genetics ; Hyperlipoproteinemia Type II/therapy ; Whole Genome Sequencing ; United Kingdom
Chemical Substances	Cholesterol, LDL
Language	English
Publishing date	2023-12-07
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2057369-8
ISSN	1534-6242 ; 1523-3804
ISSN (online)	1534-6242
ISSN	1523-3804
DOI	10.1007/s11883-023-01177-0
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Article ; Online: Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.

Linares, Daniel / Luna, Beatriz / Loayza, Edson / Taboada, Gonzalo / Ramaswami, Uma

Molecular genetics and metabolism

2023 Volume 140, Issue 4, Page(s) 107714

Abstract: Fabry disease (FD) is an X-linked lysosomal storage disease caused by pathogenic variants in the GLA gene. It has a wide range of clinical manifestations, typically related to the specific underlying GLA variant. One of the main features of FD is kidney ... ...

Abstract	Fabry disease (FD) is an X-linked lysosomal storage disease caused by pathogenic variants in the GLA gene. It has a wide range of clinical manifestations, typically related to the specific underlying GLA variant. One of the main features of FD is kidney involvement; therefore, several studies have addressed the prevalence of FD in all types of patients with chronic kidney disease. We performed a systematic review and meta-analysis of screening studies in chronic kidney disease patients, including those on dialysis, had undergone a kidney transplantation, and those who did not receive kidney replacement therapy, and assessed the prevalence of pathogenic variants in these cohorts. Fifty-five studies were included, involving a total of 84,062 individuals. Of these, 251 cases were positive for FD; a third of the reported GLA variants were of a benign phenotype (37.8%), followed by classical phenotype (31.7%), late onset (15.5%), and of uncertain significance (14.7%). The overall prevalence among dialysis patients was 0.10% (CI95%, 0.06-0.15), 0.28% (CI95%, 0.06-0.15) among patients with kidney transplantation, and 0.17% (CI95%, 0.11-0.39) among those without kidney replacement therapy. Although the overall prevalence of FD is low in patients with kidney involvement, screening, especially in patients who have not yet undergone kidney replacement therapy, is important, in order to provide timely and effective treatment interventions, including disease modifying therapies. The prevalence of kidney involvement in females with Fabry Disease is lower but this should not lead to inadequate follow up. Further research is also needed on the impact of genetic variants of uncertain significance to elucidate their role in Fabry disease.
MeSH term(s)	Female ; Humans ; Fabry Disease/complications ; Fabry Disease/epidemiology ; Fabry Disease/genetics ; alpha-Galactosidase/genetics ; Prevalence ; Renal Insufficiency, Chronic/epidemiology ; Renal Insufficiency, Chronic/genetics ; Renal Insufficiency, Chronic/therapy ; Phenotype ; Mutation
Chemical Substances	alpha-Galactosidase (EC 3.2.1.22)
Language	English
Publishing date	2023-10-30
Publishing country	United States
Document type	Meta-Analysis ; Systematic Review ; Journal Article
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2023.107714
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Zs.A 617: Show issues

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Article: Editorial: Genetics of familial hypercholesterolemia: New insight-Volume II.

Vuorio, Alpo / Ramaswami, Uma / Holven, Kirsten B

Frontiers in genetics

2022 Volume 13, Page(s) 1041342

Language	English
Publishing date	2022-10-12
Publishing country	Switzerland
Document type	Editorial
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2022.1041342
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Article ; Online: Management of familial hypercholesterolaemia in childhood.

Ramaswami, Uma / Humphries, Steve E

Current opinion in pediatrics

2020 Volume 32, Issue 5, Page(s) 633–640

Abstract: Purpose of review: All guidelines for the management of heterozygous familial hypercholesterolaemia in children and young people recommend statins to lower LDL-cholesterol (LDL-C) concentrations, to reduce the individual's adult risk of developing ... ...

Abstract	Purpose of review: All guidelines for the management of heterozygous familial hypercholesterolaemia in children and young people recommend statins to lower LDL-cholesterol (LDL-C) concentrations, to reduce the individual's adult risk of developing cardiovascular disease (CVD). Here, we review recent findings regarding the efficacy and safety of the use of stains in childhood. Recent findings: As expected from their safety profile in adults, there is no evidence from short-term trials or long-term follow-up that statin use in children is associated with any adverse effects on growth, pubertal development or muscle or liver toxicity. Long-term follow-up indicates benefits with respect to lower CVD rates. Factors that influence adherence are discussed, as is the role of the underlying genetic causes for hypercholesterolaemia and of variation at other genes in determining the LDL-C-lowering effect. Summary: Based on the good safety profile, and the expert opinion guidelines, clinicians should consider prescribing statins for children with hypercholesterolaemia from the age of at least 10 years (and earlier if CVD risk is particularly high in the family). Uptitrating statin dosage and the use of additional lipid-lowering therapies should be considered so that LDL-C concentrations are lowered to recommended targets.
MeSH term(s)	Adolescent ; Adult ; Cardiovascular Diseases/etiology ; Cardiovascular Diseases/prevention & control ; Child ; Cholesterol, LDL ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use ; Hyperlipoproteinemia Type II/diagnosis ; Hyperlipoproteinemia Type II/drug therapy ; Hyperlipoproteinemia Type II/genetics
Chemical Substances	Cholesterol, LDL ; Hydroxymethylglutaryl-CoA Reductase Inhibitors
Language	English
Publishing date	2020-08-20
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1049374-8
ISSN	1531-698X ; 1040-8703
ISSN (online)	1531-698X
ISSN	1040-8703
DOI	10.1097/MOP.0000000000000943
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Zs.A 3049: Show issues

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Article ; Online: Jaw involvement in Gaucher disease: a not-so-uncommon feature of a rare disease.

D'Amore, Simona / Kumar, Navdeep / Ramaswami, Uma

BMJ case reports

2021 Volume 14, Issue 11

Abstract: Gaucher disease is an inborn error of metabolism resulting from the deficiency of the enzyme glucocerebrosidase and consequent accumulation of glucocerebroside within the lysosomes of macrophages. The clinical presentation is very diverse, depending on ... ...

Abstract	Gaucher disease is an inborn error of metabolism resulting from the deficiency of the enzyme glucocerebrosidase and consequent accumulation of glucocerebroside within the lysosomes of macrophages. The clinical presentation is very diverse, depending on the age of onset and the severity of the disease, and results from the progressive infiltration of lipid-laden cells in various organs. Common manifestations of Gaucher disease include enlarged liver and/or spleen (hepatosplenomegaly), bone marrow disease (pancytopenia) and bone abnormalities, which are extremely variable and can affect multiple skeletal sites. While bone involvement of long bones and vertebrae is a well-recognised feature of Gaucher disease, jawbone involvement is less commonly noted. Here, we describe a case of a 63-year-old patient with type 1 Gaucher disease with a history of long-term use of bisphosphonates and who had presented with dental pain, with subsequent investigations confirming the radiological features of jaw involvement in Gaucher disease, including periodontal disease.
MeSH term(s)	Bone Diseases ; Bone and Bones ; Gaucher Disease/complications ; Humans ; Middle Aged ; Radiography ; Rare Diseases
Language	English
Publishing date	2021-11-16
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2021-244298
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Early renal failure in childhood in a male with Fabry disease.

Hogh, Josephine Norre / Ebrahim, Hatim / Moochhala, Shabbir / Ramaswami, Uma

BMJ case reports

2022 Volume 15, Issue 5

Abstract: Fabry disease is an X-linked lysosomal storage disorder caused by reduced activity or absence of the alpha-galactosidase A enzyme resulting in systemic accumulation of glycosphingolipids. End-stage renal disease (ESRD) is a late-stage manifestation of ... ...

Abstract	Fabry disease is an X-linked lysosomal storage disorder caused by reduced activity or absence of the alpha-galactosidase A enzyme resulting in systemic accumulation of glycosphingolipids. End-stage renal disease (ESRD) is a late-stage manifestation of Fabry disease, typically presenting in the fifth decade of life, but is very rare in childhood. Here we present a case of an 11-year-old boy with classical Fabry disease presenting with ESRD requiring haemodialysis and transplant. Diagnosis was confirmed by renal biopsy,
MeSH term(s)	Alleles ; Child ; Fabry Disease/complications ; Fabry Disease/diagnosis ; Fabry Disease/genetics ; Female ; Humans ; Kidney Failure, Chronic/complications ; Kidney Failure, Chronic/therapy ; Male ; Mutation ; alpha-Galactosidase/genetics
Chemical Substances	alpha-Galactosidase (EC 3.2.1.22)
Language	English
Publishing date	2022-05-10
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2021-246682
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Editorial: Genetics of Familial Hypercholesterolemia: New Insight.

Vuorio, Alpo / Ramaswami, Uma / Holven, Kirsten B

Frontiers in genetics

2021 Volume 12, Page(s) 669373

Language	English
Publishing date	2021-05-06
Publishing country	Switzerland
Document type	Editorial
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2021.669373
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Article ; Online: Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease.

D'Amore, Simona / Mckie, Mark / Fahey, Andrew / Bleloch, David / Grillo, Giuseppina / Hughes, Michael / Ramaswami, Uma

Orphanet journal of rare diseases

2024 Volume 19, Issue 1, Page(s) 13

Abstract: Background: Fabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are sweating abnormalities, neuropathic pain, gastrointestinal symptoms and fatigue. Challenges are faced by ...

Abstract	Background: Fabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are sweating abnormalities, neuropathic pain, gastrointestinal symptoms and fatigue. Challenges are faced by health care professionals in evaluating symptom burden in the current clinical setting, and the demand for alternative methods for monitoring disease-specific symptoms has seen an acceleration in recent years. Smartphone technologies offer the potential for continuity of care and surveillance. As a part of a quality improvement project, a disease specific app was developed in collaboration with a software company (Health Touch Ltd) and made available for patient use in May 2018. The Fabry mobile app records five categories: pain, gastrointestinal symptoms, sweating, activity levels, medications. Fabry disease patients with gastrointestinal and pain symptoms attending the Lysosomal Storage Disorders Unit of the Royal Free London NHS Foundation Trust were reviewed to assess eligibility and invited to download the app for recording their symptoms (activity, sweating, pain and gastrointestinal) and medications. Patient-generated data were transmitted to a secure website for clinicians to review. Results: One-hundred and thirty-nine symptomatic Fabry disease patients who had a smartphone (iPhone or android) were invited to download the app. Sixty-seven patients (26 males and 41 females; median age, 49 years [range, 20-81]) downloaded and tracked the Fabry App at least once. The median frequency of use per patient was 6 (range, 1-629). Pain in the hands and abdominal pain were significantly higher (p = 0.009 and p = 0.007, respectively) in patients with classic phenotype compared with patients with non-classic phenotypes. Conclusions: We demonstrated the feasibility and acceptability of a smartphone app to facilitate the remote assessment and monitoring of Fabry disease symptom burden on a daily/weekly basis, as an alternative to the current standard of care that requires patients to recall their symptoms during 6 to 12 monthly annual clinic visits. Patients who were more likely to use the app had greater disease burden. This innovation has the potential to assess disease progression, early therapeutic intervention, thereby decreasing the burden of morbidity and mortality among Fabry patients, and to record long-term effects of Fabry-specific therapies.
MeSH term(s)	Male ; Female ; Humans ; Middle Aged ; Fabry Disease/drug therapy ; Mobile Applications ; alpha-Galactosidase/therapeutic use ; Gastrointestinal Diseases ; Neuralgia
Chemical Substances	alpha-Galactosidase (EC 3.2.1.22)
Language	English
Publishing date	2024-01-11
Publishing country	England
Document type	Journal Article
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-023-02999-6
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Article ; Online: Fabry App

Simona D’Amore / Mark Mckie / Andrew Fahey / David Bleloch / Giuseppina Grillo / Michael Hughes / Uma Ramaswami

Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-

the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease

2024 Volume 10

Abstract: Abstract Background Fabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are sweating abnormalities, neuropathic pain, gastrointestinal symptoms and fatigue. Challenges are ... ...

Abstract	Abstract Background Fabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are sweating abnormalities, neuropathic pain, gastrointestinal symptoms and fatigue. Challenges are faced by health care professionals in evaluating symptom burden in the current clinical setting, and the demand for alternative methods for monitoring disease-specific symptoms has seen an acceleration in recent years. Smartphone technologies offer the potential for continuity of care and surveillance. As a part of a quality improvement project, a disease specific app was developed in collaboration with a software company (Health Touch Ltd) and made available for patient use in May 2018. The Fabry mobile app records five categories: pain, gastrointestinal symptoms, sweating, activity levels, medications. Fabry disease patients with gastrointestinal and pain symptoms attending the Lysosomal Storage Disorders Unit of the Royal Free London NHS Foundation Trust were reviewed to assess eligibility and invited to download the app for recording their symptoms (activity, sweating, pain and gastrointestinal) and medications. Patient-generated data were transmitted to a secure website for clinicians to review. Results One-hundred and thirty-nine symptomatic Fabry disease patients who had a smartphone (iPhone or android) were invited to download the app. Sixty-seven patients (26 males and 41 females; median age, 49 years [range, 20–81]) downloaded and tracked the Fabry App at least once. The median frequency of use per patient was 6 (range, 1–629). Pain in the hands and abdominal pain were significantly higher (p = 0.009 and p = 0.007, respectively) in patients with classic phenotype compared with patients with non-classic phenotypes. Conclusions We demonstrated the feasibility and acceptability of a smartphone app to facilitate the remote assessment and monitoring of Fabry disease symptom burden on a daily/weekly basis, as an alternative to the current standard of care that ...
Keywords	Fabry disease ; Smartphone applications ; Patient reported data ; Disease monitoring ; Disease management ; Medicine ; R
Subject code	610
Language	English
Publishing date	2024-01-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Update on role of agalsidase alfa in management of Fabry disease.

Ramaswami, Uma

Drug design, development and therapy

2011 Volume 5, Page(s) 155–173

Abstract: Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women. The manifestations of this heterogeneous disease are multisystemic and progressive. Prior to the development of enzyme replacement therapy, the management and ... ...

Abstract	Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women. The manifestations of this heterogeneous disease are multisystemic and progressive. Prior to the development of enzyme replacement therapy, the management and treatment for Fabry disease was largely nonspecific and supportive. Because enzyme replacement therapy became commercially available in 2001, a variety of clinical benefits in Fabry patients have been consistently reported, including improved renal pathology and cardiac function, and reduced severity of neuropathic pain and improved pain-related quality of life. This update focuses on published data on the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa, and gives a brief overview on some of the outstanding management issues in the treatment of this complex disease.
MeSH term(s)	Enzyme Replacement Therapy ; Fabry Disease/drug therapy ; Humans ; Isoenzymes/adverse effects ; Isoenzymes/pharmacology ; Isoenzymes/therapeutic use ; Recombinant Proteins/adverse effects ; Recombinant Proteins/pharmacology ; Recombinant Proteins/therapeutic use ; Treatment Outcome ; alpha-Galactosidase/adverse effects ; alpha-Galactosidase/pharmacology ; alpha-Galactosidase/therapeutic use
Chemical Substances	Isoenzymes ; Recombinant Proteins ; agalsidase alfa (2HLC17MX9G) ; alpha-Galactosidase (EC 3.2.1.22) ; agalsidase beta (RZD65TSM9U)
Language	English
Publishing date	2011-03-14
Publishing country	New Zealand
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2451346-5
ISSN	1177-8881 ; 1177-8881
ISSN (online)	1177-8881
ISSN	1177-8881
DOI	10.2147/DDDT.S11985
Database	MEDical Literature Analysis and Retrieval System OnLINE

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