primary (AL) amyloidosis
Description
● Overview
➣Amyloidosis is a diverse collection of disorders caused by the deposition of extracellular amyloid fibrils.
• The discovery of 30 amyloid precursor proteins.
➣The most prevalent fibrils from monoclonal immunoglobulin light chains (kappa/lambda) are found in
➣AL (primary) amyloidosis.
The kidneys, heart, liver, nerves, skin, and gastrointestinal system are among the many organs involved.
➣ Patterns of renal deposition:
• Diffuse pattern: amyloid in glomeruli + arteries, proteinuria, nephrotic syndrome.
• Vascular-limited pattern: low proteinuria, ischaemic renal injury, and amyloid exclusively in vessels → delayed diagnosis.
● Case Study
➣ Patient: 70-year-old man with PCI for hx unstable angina.
➣ First presentation (2010):
• sCr 1.62 mg/dL.
• No haematuria or proteinuria.
• USG: thin cortices. → diagnosed as nephrosclerosis.
➣ Development after 8 months: • sCr increased to 2.34 mg/dL.
• There is still no haematuria or proteinuria.
• A quicker than anticipated decline in nephrosclerosis.
➣ No prior history of interstitial nephritis, vasculitis, or drug-induced nephropathy.
➣ A renal biopsy is scheduled because of the unusual course.
● Results of the Renal Biopsy:
➣ According to light microscopy, 15 of the 26 glomeruli are globally sclerosed.
• Tubular atrophy and interstitial fibrosis at 70%.
• Vascular walls that are thicker and contain amorphous, weakly PAS+ material.
• Apple-green birefringence, or Congo red +.
➣ Immunofluorescence: Mesangium is mostly IgM.
➣ Immunohistochemistry: Lambda is weaker than kappa chain positive.
➣ Electron Microscopy:
• Amyloid fibrils in the vascular wall, non-branching, 15 nm in diameter.
➣ The diagnosis is vascular-limited AL amyloidosis.
● Additional tests:
➣ Haemoglobin 9.6 g/dL (anaemia);
➣ Serum free light chains:
• Kappa 473 mg/L (↑), Lambda 32.2 mg/L ⇒ κ/λ ratio 14.7 (abnormal).
➣ Electrophoresis of serum and urine: negative (no Bence-Jones, no M-protein).
➣ Bone marrow: no amyloid, kappa preponderance, 5% plasma cells Biopsy of the fat pad: negative.
➣ No lesions in the lytic bone.
➣ Heart: NT-proBNP ↑ (646 pg/mL), although echo is normal. Troponin-I is not present.
● Discussion:
➣Renal amyloidosis patterns:
•Diffuse: slower decline, nephrotic syndrome, proteinuria, glomerular deposition.
• Vascular-limited: minimal proteinuria, ischaemia, and rapid renal failure due to vessel wall deposition.
• Pathogenesis: constriction of the vessels causing ischaemic glomerular/interstitial damage.
➣ Epidemiology:
• Vascular-limited AL amyloidosis is uncommon (about 5% of cases).
• More prevalent in rheumatoid arthritis and other forms of AA amyloidosis.
➣ The prognosis is as follows:
• median survival ~77 months; diffuse pattern.
• Vascular-limited pattern → poorer median survival of about 40 months.
➣ Diagnostic difficulties include:
• Low proteinuria, which is frequently confused with nephrosclerosis.
• In situations with inadequate blood flow, fat pad, marrow, rectal, and skin biopsies are less accurate.
• The test for serum free light chains has a high sensitivity and can identify light chains that electrophoresis misses.
➣Ultrasound: in amyloidosis, enlarged echogenic kidneys are frequently observed (not seen here).
➣Takeaway: When renal deterioration is more rapid than anticipated given an assumed diagnosis, a renal biopsy should be performed.
Protocol
● Clinical Course:
➣First treatment: VAD regimen (Vincristine + Adriamycin/Doxorubicin + Dexamethasone).
• A partial biochemical reaction (from 14.7 to 6.5 for the κ/λ ratio).
• After two cycles, relapse.
➣Bortezomib with dexamethasone is the second treatment.
• Thirteen cycles were provided.
• The κ/λ ratio rose to 3.3.
• Decreased renal function: eGFR drops from 12 to 5 mL/min/year.
• Adverse effects include glucose intolerance and mild constipation.
➣ 2014: Dialysis is scheduled due to a sCr of 7.68 mg/dL.
➣ A positive prognostic indicator is the absence of cardiac involvement throughout.
● Typical Issues Patients Face:
➣ Adverse drug events and prescription errors: Patients are susceptible to obtaining the wrong drugs or dosages, which might cause injury or clinical difficulties.
➣ Healthcare-Associated illnesses (HAIs): These illnesses, which are contracted while a patient is in the hospital, lead to higher rates of morbidity, longer hospital stays, and higher medical expenses.
➣ During hospitalisation, many patients have pain that is either mismanaged or inadequately addressed.
Immobility complications and pressure ulcers: Patients who are immobilised or in critical condition are susceptible to skin deterioration and associated morbidities.
➣ Poor Nutrition and Elimination: Managing bowel movements and ensuring proper nutrition are common challenges, particularly for hospitalised or disabled patients.
● Comprehensive Nursing Interventions and How They Are Managed:
➣ Medication Management:
•To minimise medication mistakes and avoid side effects, nurses do routine evaluations and medication reconciliation.
•The findings indicate a notable decrease in hospital readmissions and medication inconsistencies.
➣Infection Control:
•Isolation procedures, care packages, and strict hand hygiene are examples of interventions that have been frequently used.
• Consistent practice, ongoing training, and cultivating a safety-focused organisational culture are essential for effective management.
•Studies show that high adherence reduces the incidence of HAI, but uneven application brought on by workload or a lack of continuing education might hinder real-world efficacy.
➣Pain Management:
•To reduce pain and increase patient satisfaction, both non-pharmacological (music therapy, cognitive tactics) and pharmaceutical (analgesics, patient-controlled analgesia) methods are employed.
➣Preventing pressure ulcers:
•Important interventions include repositioning, supporting surfaces, risk and skin state evaluations, and preventative skincare.
•The incidence and danger of pressure injuries are greatly reduced by these measures.
• Standard components of managing pressure ulcers include regular repositioning, using barrier creams, and keeping an eye on nutritional condition.
➣Nutritional and Elimination Support:
• Nurses help patients with meals, evaluate and manage nutritional needs, and support those who have trouble eliminating (bowel routines, catheter care).
• These measures aid in the prevention of dehydration, malnourishment, and incontinence-related problems.
● Implementation Challenges and Solutions
➣ Challenges:
• Not always following procedures.
•High workload and personnel issues.
• Insufficient support and continuing education for novel interventions.
➣ Management Techniques:
• Ongoing professional growth.
• Regular feedback and audits.
•Creating a caring healthcare setting that promotes following best practices.
Notes
For more details visit 10.1007/s13730-014-0157-7
