Amyloidosis is the general term used to refer to the extracellular tissue deposition of fibrils composed of low molecular weight subunits of a variety of proteins – amyloid proteins. Many of these proteins are normal constituents of serum, but after undergoing conformational changes, their properties change, turning them into insoluble polymers. These polymers accumulate in different systems leading to a plethora of symptoms involving many organs. There are several major forms of amyloidosis depending on the protein which originates the subunit, being AL (Immunoglobulin Light Chain) and AA (Serum Amyloid A Protein) the main types. The predominant mode of inheritance is autosomal dominant. Neuropathy is a term that refers to a generalized and homogeneous process affecting many peripheral nerves, the distal nerves usually affected most prominently. It has a wide variety of causes, such as diabetes mellitus, alcohol abuse or Charcot-Marie-Tooth Disease. The most relevant manifestations are numbness or tingling in hands and feet, muscle weakness, pain hypersensitivity and loss of balance. The mode of inheritance varies from autosomal dominant to recessive.
The Igenomix Amyloidosis and Neuropathies Precision Panel can serve as an accurate and directed diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Amyloidosis and Neuropathies Precision Panel is indicated for those patients with a clinical diagnosis or suspicion presenting with or without the following manifestations:
- Renal Disease: hematuria (blood in urine)
- Cardiomyopathy: chest pain, arrythmia, heart failure
- Gastrointestinal Disease: hepatomegaly, bleeding, malabsorption.
- Neurologic Abnormalities: dementia, cortical bleeding.
- Musculoskeletal Disease: pseudohypertrophy, macroglossia.
- Hematologic Abnormalities: anemia, thrombocytopenia.
- Pulmonary Disease: dysphagia, Sjögren’s syndrome.
- Skin Manifestations: subcutaneous nodules, waxy thickening.
- Pain Hypersensitivity
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of multidisciplinary treatment in the form of pharmacologic treatment to help reduce the production of insoluble polymers, or even surgical procedures to transplant the affected organ.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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