Amyloid Disease, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

This book describes Amyloid Disease, Diagnosis and Treatment and Related DiseasesAmyloid Disease is a progressive disease affecting the tissue infiltrates of insoluble proteins or amyloid proteins leading to poor function of the organs involved. Amyloid Disease is a medical disorder produced by extra-cellular and or intra-cellular deposition of insoluble abnormal amyloid fibrils that alter the normal function of tissues.
In humans there are about 23 different unrelated proteins known to form amyloid fibrils in vivo. Proteins that develop into amyloid fibrils differ in size function, amino acid effect and native structure but become non-soluble clumps that are similar in structure and in properties. In the past amyloid disease was classified as primary amyloid disease 70% or secondary amyloid disease but with chemical testing of the amyloid protein, Amyloid is categorized chemically.
The amyloid diseases are termed with a capital A (for amyloid) accompanied by an abbreviation for the fibril protein:1. AA amyloid disease contains a normal-sequence serum amyloid A proteinThe kidneys, joints, liver and spleen are the main targets of AA amyloid deposits2. AL amyloid Disease was previously known as primary amyloid diseaseOrgans involved are the heart, kidney, peripheral nerve, gastrointestinal tract, respiratory tract and nearly any other organ.
AL amyloid disease is the most frequent type of systemic amyloid disease in developed countries3. Transthyretin amyloid disease (ATTR) is the most frequent inherited systemic type of amyloid diseaseATTR is an autosomal-dominant disease but is linked with at least 100 different transthyretin (TTR) mutationsThere are many other amyloid diseases. Symptoms:This disease can involve the tongue, intestines, skeletal and smooth muscles, nerves, skin, ligaments, heart, liver, spleen and kidneys1.
Fatigue, 2. Weight loss, 3. Easy bruising, 4. Breathlessness, 5. Peripheral edema, 6. Sensory change, 7. Carpal tunnel syndrome8. Postural hypotensionSigns:1. Unexplained renal disease2. Massive proteinuria3. Cardiac amyloid disease4. Marked hepatomegaly with kidney disease:5. Sensory glove- and stocking-type polyneuropathy:a. Particularly carpal tunnel syndrome6. Vitreous opacities7. Gastrointestinal amyloid8.
Skin lesions:a. Spontaneous periorbital purpura - racoon eye9. A firm, symmetrical, non-tender goiterDiagnosis:Biopsy of an affected organ, or simple subcutaneous aspiration of abdominal fat - stains red with Congo red stain giving red-green birefringence under polarized lightDiagnosis is validated in 80% of casesImmunofixation electrophoresis can confirm the type of amyloid diseaseTreatmentNo treatment is present that specifically targets the amyloid deposits, The treatment is therefore directed at suppressing the underlying plasma cell dyscrasia along with supportive measures to support and possibly preserve organ function.
Supportive1. Symptoms must be treated, e.g. diuretics for renal failure, erythropoietin for anemia.2. Congestive heart failure may respond to diuretics, but larger doses are often required as the disease progresses. Underlying DisorderAny underlying causes, e.g. inflammatory disorders, chronic infection or carcinoma, should be treatedSpecific treatmentAlkylator-based chemotreatment is effective to some degree in almost 66% of patients.
Trials with novel medicines such as thalidomide, lenalidomide, pomalidomide and bortezomib have shown promising results. Stem cell transplantation are for:1. Normally < 70 years old, 2. Minimal heart failure, 3. Serum creatinine ?177 ?mol/L and4. Fewer than 3 organs involvedSurgicalLiver and kidney transplant may be transiently successfulTABLE OF CONTENTIntroductionChapter 1 Amy...