Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2026
Childhood onset, indolent progression, and risk of hepatic rupture: the natural history of hereditary lysozyme amyloidosis.
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Carruthers Jack E, Gilbertson Janet A, Rowczenio Dorota, Hutt David F, Cohen Oliver C, Mahmood Shameem, Martinez-Naharro Ana, Ravichandran Sriram, Whelan Carol, Wechalekar Ashutosh D, Hawkins Philip N, Fontana Marianna, Gillmore Julian D, Lachmann Helen J
Аннотация
BACKGROUND: Lysozyme amyloidosis (ALys) is a rare systemic amyloidosis caused by pathogenic variants in LYZ. We describe the natural history and outcomes for this disease in the largest cohort yet published.
METHODS: All patients diagnosed with ALys at the National Amyloidosis Centre between 1988 and 2025 were included. Diagnosis was established by immunohistochemistry or proteomics with the identification of a variant in LYZ. Trends in data were analysed longitudinally.
RESULTS: Thirty-five patients were included (median age: 45 years). Twenty-five (71%) carried the Asp67His (p.Asp85His) variant. Median age at symptom onset was 23.7 years, and 43% reported childhood symptoms. Sicca syndrome was the commonest presenting manifestation (46%), followed by gastrointestinal (GI) symptoms (23%). Renal involvement occurred in 57%. Eight developed kidney failure requiring renal replacement therapy. Six kidney transplants were performed with no amyloid recurrence. Liver involvement was present in 80%. Spontaneous hepatic rupture or haemorrhage occurred in five patients, necessitating emergency liver transplantation in four. GI bleeding occurred in 31%. Reproductive outcomes were successful in many patients.
CONCLUSIONS: ALys is characterised by early symptom onset, indolent systemic progression, and risk of catastrophic hepatic or splenic rupture. These findings provide a framework for surveillance, transplantation planning, and future therapeutic studies.
METHODS: All patients diagnosed with ALys at the National Amyloidosis Centre between 1988 and 2025 were included. Diagnosis was established by immunohistochemistry or proteomics with the identification of a variant in LYZ. Trends in data were analysed longitudinally.
RESULTS: Thirty-five patients were included (median age: 45 years). Twenty-five (71%) carried the Asp67His (p.Asp85His) variant. Median age at symptom onset was 23.7 years, and 43% reported childhood symptoms. Sicca syndrome was the commonest presenting manifestation (46%), followed by gastrointestinal (GI) symptoms (23%). Renal involvement occurred in 57%. Eight developed kidney failure requiring renal replacement therapy. Six kidney transplants were performed with no amyloid recurrence. Liver involvement was present in 80%. Spontaneous hepatic rupture or haemorrhage occurred in five patients, necessitating emergency liver transplantation in four. GI bleeding occurred in 31%. Reproductive outcomes were successful in many patients.
CONCLUSIONS: ALys is characterised by early symptom onset, indolent systemic progression, and risk of catastrophic hepatic or splenic rupture. These findings provide a framework for surveillance, transplantation planning, and future therapeutic studies.