Fabry's disease
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2] Neepa Shah, M.B.B.S.[3]
Synonyms and keywords:
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.
- It occurs as a result of the body's inability to make an enzyme alpha-galactosidase A. This enzyme in-turn is responsible for breaking down a type of fat called globotriaosylceramide (Gb3 or GL-3) into building blocks that are used by the cells of the body.
- The enzyme is encoded by the GLA gene located on the long arm of the X chromosome (q21-22).
- The abnormal accumulation of this fat typically in three main organ systems namely the brain, heart and kidney is responsible for the varied manifestations associated with the disease
- Fabry's disease affects an estimated 1 in 40,000 to 60,000 males. The rate of prevalence is more common in men than women , with the rate of prevalence in women rather undetermined.
- Milder, late-onset forms of the disorder are probably more common than the classic, severe form.
Historical Perspective
- Anderson - Fabry disease was first described at the end of the 19th century by two dermatologists, Johannes Fabry in Germany and William Anderson in England.
- In 1989 the origin of one of its many clinical names, "angiokeratoma corporis diffusum" was first identified by fabry as he described a clinical case of a13-year-old patient affected by nodular purpura and subsequent albuminuria. In that same year Anderson described the clinical case of a systemic disorder affecting a patient aged 39 with angiokeratomas, proteinuria, finger deformities, varicose veins and lymphedema.
- The first ten years of the 20th century identified other similar cases.
- In the year 1912, Madden illustrated the clinical case of a young Egyptian patient with diffuse angiokeratomas followed in 1915 by Fabry who reproposed this condition as "Angiokeratoma corporis naeviforme".
- In 1947 Pompen speculated the origin of Anderson - Fabry disease as rather “familial” after the clinical case of two brothers dying of a similar disease was identified.
- Anderson - Fabry Disease is a multi-systemic disorder caused by the build-up inside lysosomes of globotriaosylceramide or Gb3, the accumulated lipid material discovered in 1963 by Sweeley e Klionsky.In
- In 1964 the clinical features of the main two phenotypes of the disease, the classical form and the atypical variants were described.
- In the ‘70s the enzyme involved in the metabolism of Gb3 was found to be α-galactosidase A, whose functional deficit causes the disease. The enzyme is encoded by the GLA gene - described in 1974 - located in the long arm of the X chromosome (q21-22).
- In the mid-1990s the many efforts to replace the lacking enzyme were successful and further led to the enzymatic replacement therapy for Anderson - Fabry disease. [1]
Classification
Pathophysiology
Causes
Differentiating Fabry's disease from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigation Therapies
Case Studies
External links
- Fabry Support & Information Group
- Template:NINDS
- Fabry's disease at NLM Genetics Home Reference
- Fabry's Disease Association
References
[1] Caterina Bartolotta, Marcello Filogamo, Paolo Colomba, Carmela Zizzo, Giuseppe Albeggiani, Simone Scalia, Daniele Francofonte, Giuseppe Cammarata, Vincenzo Savica, Giovanni Duro, FP907 HISTORY OF ANDERSON - FABRY DISEASE, Nephrology Dialysis Transplantation, Volume 30, Issue suppl_3, 1 May 2015, Page iii379, https://doi.org/10.1093/ndt/gfv186.08