Anatom3D
ENCZDE
Download

Amyloidosis (AL and ATTR)

Amyloidosis · Amyloidóza (AL a ATTR)

What it is

Misfolded proteins laid down as amyloid fibrils stiffen the heart, clog the kidneys and damage nerves; AL comes from a plasma-cell clone making light chains, ATTR from transthyretin — inherited mutant or, in older men, wild type.

Symptoms & signs

  • Breathlessness, swollen legs (stiff heart)
  • frothy urine, oedema (kidney)
  • numb, burning feet; carpal tunnel
  • dizziness on standing
  • big tongue, bruising around the eyes (AL)

🚩 Get help if…

  • call 112 / 911 now Fainting or chest pain
  • call 112 / 911 now Breathlessness at rest or when lying flat
  • see a doctor soon Fast weight gain from swelling, or much less urine
  • see a doctor soon Dizziness on standing with falls

Where it strikes

Medical treatment

  • Biopsy with amyloid typing; bone scintigraphy for ATTR; free light chains
  • AL: daratumumab with bortezomib, cyclophosphamide and dexamethasone (ANDROMEDA)
  • stem-cell transplant for fit AL patients
  • Tafamidis for ATTR heart disease — ATTR-ACT: deaths 29% against 43% over 30 months trials support
  • Acoramidis — FDA 2024; fewer deaths and hospital stays (ATTRibute-CM) trials support
  • Patisiran or vutrisiran (RNA silencing) — halt hereditary ATTR neuropathy; vutrisiran also cut deaths and heart events (HELIOS-B) trials support
  • diuretics; heart transplant for selected patients

Natural & lifestyle

  • Low-salt diet for fluid
  • compression stockings for low blood pressure

Emerging & experimental

  • Eplontersen (antisense)
  • in-body CRISPR editing of the TTR gene (nexiguran ziclumeran)
  • antibodies that clear amyloid deposits

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Green tea extract (EGCG) — small observational studies in heart amyloid early / small studies
  • Doxycycline with TUDCA — small studies in ATTR early / small studies

ICD codes