ABetaL34V amyloidosis

ORPHA: 324703

Overview

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with ABetaL34V amyloidosis, sourced from HPO and Orphanet clinical annotations.

Atypical behaviorDementiaIntellectual disabilityComaGlobal developmental delayStrokeCerebral hemorrhageMigraineParesthesiaSomatic sensory dysfunctionAbnormal cerebral vascular morphology

Classification & Codes

Orphanet Code

ORPHA:324703
ABetaL34V amyloidosis
OrphanetORPHA:324703
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO