Fabry's disease overview: Difference between revisions
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==Overview== | ==Overview== | ||
Fabry disease (also known as alpha-galactosidase A deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum, Anderson Fabry disease) is an X-linked recessive inherited lysosomal storage disorder. | [[Fabry's disease]] (also known as [[alpha-galactosidase A deficiency]], [[ceramide trihexosidase deficiency]], [[Angiokeratoma corporis diffusum universale|angiokeratoma corporis diffusum]], Anderson Fabry disease) is an [[X-linked recessive]] inherited [[lysosomal storage disorder]]. | ||
==Historical Perspective== | ==Historical Perspective== | ||
Fabry's disease is a rare inherited genetic condition that leads to the α-galactosidase A enzyme deficiency in individuals. Fabry disease (or Anderson - Fabry disease) was first described separately by two physicians at the end of the 19th century. The feature and pathophysiology of the disease have been revealed through the years by various scientists. | [[Fabry's disease]] is a rare inherited genetic condition that leads to the [[α-galactosidase A enzyme deficiency]] in individuals. [[Fabry's disease]] (or Anderson - Fabry disease) was first described separately by two physicians at the end of the 19th century. The feature and pathophysiology of the disease have been revealed through the years by various scientists. | ||
==Classification== | ==Classification== | ||
Fabry's disease can be classified based on its different phenotypes or complications. Its different phenotypes are: classic and late-onset. The different complications involves: cardiac, renal, and neuropathic forms. | [[Fabry's disease]] can be classified based on its different [[phenotypes]] or [[complications]]. Its different phenotypes are: classic and late-onset. The different complications involves: cardiac, renal, and neuropathic forms. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Genes involved in the pathogenesis of Fabry's disease include the GLA gene, which codes the important enzyme of alpha-galactosidase. The absence or lack of this enzyme causes Gb3 accumulation in different organs. The main pathological finding is detection of these inclusion in different cells with electron microscopies. | [[Genes]] involved in the pathogenesis of [[Fabry's disease]] include the [[GLA gene]], which codes the important enzyme of [[alpha-galactosidase]]. The absence or lack of this enzyme causes [[Gb3]] accumulation in different organs. The main pathological finding is detection of these inclusion in different cells with [[electron microscopies]]. | ||
==Causes== | ==Causes== | ||
Fabry's disease is caused by a mutation in the GLA gene. | [[Fabry's disease]] is caused by a mutation in the GLA gene. | ||
==Differentiating | ==Differentiating Fabry's disease from Other Diseases== | ||
Fabry's disease is often misdiagnosed due to its rarity and wide range of non-specific clinical manifestations. Fabry's disease be differentiated from various kind of condition based on the symptoms and organ involvement. | [[Fabry's disease]] is often misdiagnosed due to its rarity and wide range of non-specific clinical manifestations. Fabry's disease be differentiated from various kind of condition based on the symptoms and organ involvement. | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
Fabry's disease is a rare condition with a prevalence of approximately 6:100,000 to 0.8:100,000 in men. This disease mostly affects men and has no rational disparities. | [[Fabry's disease]] is a rare condition with a [[prevalence]] of approximately 6:100,000 to 0.8:100,000 in men. This disease mostly affects men and has no rational disparities. | ||
==Risk Factors== | ==Risk Factors== | ||
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==Screening== | ==Screening== | ||
According to National society of Genetic Counselors, screening for [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] in patient family member is recommended. The early [https://www.wikidoc.org/index.php/Prenatal prenatal] and [https://www.wikidoc.org/index.php/Newborn%20screening newborn screening] can be done by [https://www.wikidoc.org/index.php/%CE%91-Gal_A_enzyme α-Gal A enzyme] and ''[https://www.wikidoc.org/index.php/GLA_deficiency GLA]'' mutation analyses. Based on American Heart Failure society the [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] screening should be done in males with unexplained [https://www.wikidoc.org/index.php/Cardiac%20hypertrophy cardiac hypertrophy]. | |||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
If Fabry's disease leaves untreated it can lead to end-stage renal disease (ESRD), cardiomyopathy, and stroke which are the main causes of death in these patients. Enzyme replacement therapy (ERT) treatment has an important role in their life expectancy and disease complications. | If [[Fabry's disease]] leaves untreated it can lead to [[end-stage renal disease]] (ESRD), [[cardiomyopathy]], and [[stroke]] which are the main causes of death in these patients. [[Enzyme replacement therapy]] (ERT) treatment has an important role in their life expectancy and disease complications. | ||
==Diagnosis== | ==Diagnosis== | ||
===History and Symptoms=== | ===History and Symptoms=== | ||
A positive history of angiokeratomas, peripheral neuropathies, gradually decreased sweating, and gastrointestinal manifestations in childhood are suggestive of classic Fabry's disease. In the late-onset form of the disease neuropathic pain and gastrointestinal manifestation is not common and they may have organ-specific symptoms. | A positive history of [[angiokeratomas]], [[Neuropathies|peripheral neuropathies]], gradually decreased [[Sweating deficiency|sweating]], and [[gastrointestinal]] manifestations in childhood are suggestive of classic [[Fabry's disease]]. In the late-onset form of the disease [[neuropathic]] pain and [[gastrointestinal]] manifestation is not common and they may have organ-specific symptoms. | ||
===Physical Examination=== | ===Physical Examination=== | ||
The presence of angiokeratomas on physical examination is highly suggestive of Fabry's disease. other physical examinations can be varied due to organ involvement. | The presence of [[angiokeratomas]] on [[physical examination]] is highly suggestive of [[Fabry's disease]]. other physical examinations can be varied due to organ involvement. | ||
===Laboratory Findings=== | ===Laboratory Findings=== | ||
A reduced concentration of serum Alpha-galactosidase A level or its activity is diagnostic of Fabry's disease. Other laboratory findings can vary due to organ involvement. | A reduced concentration of serum [[Alpha-galactosidase A deficiency|Alpha-galactosidase A level]] or its activity is diagnostic of Fabry's disease. Other laboratory findings can vary due to organ involvement. | ||
===Electrocardiogram=== | ===Electrocardiogram=== | ||
However the ECG patterns are not specific for Fabry's, it may be helpful in the diagnosis of Fabry's disease cardiac complications. | However the [[ECG]] patterns are not specific for Fabry's , it may be helpful in the diagnosis of [[Fabry's disease]] [[cardiac]] complications. | ||
===CT scan=== | ===CT scan=== | ||
CT scan can show different non-specific aspects of the brain, lung, and kidney involvement in Fabry's disease. | [[CT scan]] can show different non-specific aspects of the [[brain]], [[lung]], and [[kidney]] involvement in [[Fabry's disease]]. | ||
===MRI=== | ===MRI=== | ||
MRI can play an important role in the diagnosis of the brain and cardiac complications of Fabry's disease. there are also some non-specific findings in renal involvement. | [[MRI]] can play an important role in the diagnosis of the brain and cardiac complications of [[Fabry's disease]]. there are also some non-specific findings in renal involvement. | ||
===Echocardiography and ultrasound=== | ===Echocardiography and ultrasound=== | ||
Echocardiography and renal ultrasound can reveal the diagnostic pattern of Fabry's disease in these particular organs. | [[Echocardiography]] and [[Ultrasound|renal ultrasound]] can reveal the diagnostic pattern of [[Fabry's disease]] in these particular organs. | ||
===Other Imaging Findings=== | ===Other Imaging Findings=== | ||
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==Treatment== | ==Treatment== | ||
===Medical Therapy=== | ===Medical Therapy=== | ||
The mainstay of therapy for Fabry's disease is enzyme replacement by | The mainstay of therapy for [[Fabry's disease]] is enzyme replacement by [[Agalsidase alfa|Agalsidase]]<nowiki/>s. Other treatment is increasing the enzyme activity by [[Migalastat]]. There are also some general treatments for Fabry's disease complications. | ||
===Surgery=== | ===Surgery=== | ||
Kidney transplantation can be a surgical option in certain Fabry's disease patients. | [[Kidney transplantation]] can be a surgical option in certain [[Fabry's disease]] patients. | ||
==References== | ==References== | ||
Revision as of 19:15, 23 May 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Fabry's disease (also known as alpha-galactosidase A deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum, Anderson Fabry disease) is an X-linked recessive inherited lysosomal storage disorder.
Historical Perspective
Fabry's disease is a rare inherited genetic condition that leads to the α-galactosidase A enzyme deficiency in individuals. Fabry's disease (or Anderson - Fabry disease) was first described separately by two physicians at the end of the 19th century. The feature and pathophysiology of the disease have been revealed through the years by various scientists.
Classification
Fabry's disease can be classified based on its different phenotypes or complications. Its different phenotypes are: classic and late-onset. The different complications involves: cardiac, renal, and neuropathic forms.
Pathophysiology
Genes involved in the pathogenesis of Fabry's disease include the GLA gene, which codes the important enzyme of alpha-galactosidase. The absence or lack of this enzyme causes Gb3 accumulation in different organs. The main pathological finding is detection of these inclusion in different cells with electron microscopies.
Causes
Fabry's disease is caused by a mutation in the GLA gene.
Differentiating Fabry's disease from Other Diseases
Fabry's disease is often misdiagnosed due to its rarity and wide range of non-specific clinical manifestations. Fabry's disease be differentiated from various kind of condition based on the symptoms and organ involvement.
Epidemiology and Demographics
Fabry's disease is a rare condition with a prevalence of approximately 6:100,000 to 0.8:100,000 in men. This disease mostly affects men and has no rational disparities.
Risk Factors
There are no established risk factors for Fabry's disease.
Screening
According to National society of Genetic Counselors, screening for Fabry's disease in patient family member is recommended. The early prenatal and newborn screening can be done by α-Gal A enzyme and GLA mutation analyses. Based on American Heart Failure society the Fabry's disease screening should be done in males with unexplained cardiac hypertrophy.
Natural History, Complications, and Prognosis
If Fabry's disease leaves untreated it can lead to end-stage renal disease (ESRD), cardiomyopathy, and stroke which are the main causes of death in these patients. Enzyme replacement therapy (ERT) treatment has an important role in their life expectancy and disease complications.
Diagnosis
History and Symptoms
A positive history of angiokeratomas, peripheral neuropathies, gradually decreased sweating, and gastrointestinal manifestations in childhood are suggestive of classic Fabry's disease. In the late-onset form of the disease neuropathic pain and gastrointestinal manifestation is not common and they may have organ-specific symptoms.
Physical Examination
The presence of angiokeratomas on physical examination is highly suggestive of Fabry's disease. other physical examinations can be varied due to organ involvement.
Laboratory Findings
A reduced concentration of serum Alpha-galactosidase A level or its activity is diagnostic of Fabry's disease. Other laboratory findings can vary due to organ involvement.
Electrocardiogram
However the ECG patterns are not specific for Fabry's , it may be helpful in the diagnosis of Fabry's disease cardiac complications.
CT scan
CT scan can show different non-specific aspects of the brain, lung, and kidney involvement in Fabry's disease.
MRI
MRI can play an important role in the diagnosis of the brain and cardiac complications of Fabry's disease. there are also some non-specific findings in renal involvement.
Echocardiography and ultrasound
Echocardiography and renal ultrasound can reveal the diagnostic pattern of Fabry's disease in these particular organs.
Other Imaging Findings
There are no other imaging findings associated with Fabry's disease.
Other Diagnostic Studies
There are no other diagnostic studies associated with Fabry's disease.
Treatment
Medical Therapy
The mainstay of therapy for Fabry's disease is enzyme replacement by Agalsidases. Other treatment is increasing the enzyme activity by Migalastat. There are also some general treatments for Fabry's disease complications.
Surgery
Kidney transplantation can be a surgical option in certain Fabry's disease patients.