A 48 year old Filipino man presented with a six month history of progressive right leg numbness, anorexia, severe nausea and vomiting. On admission he was alert, oriented and afebrile.  There was no papilledema. Limb examination revealed absent right ankle and knee deep tendon reflexes and reduced pinprick sensation in the right leg.

Family history revealed his mother had refractory progressive nausea, vomiting and sensory symptoms and died five years later.

MRI brain was unremarkable. Lumbar puncture revealed elevated protein of 107 mg/dL with normal glucose and cell counts. Nerve Conduction Studies showed a mononeuropathy multiplex pattern. Inflammatory markers and vasculitic screen were negative. He received a course of steroids and IVIG which did not improve symptoms at all.

Biopsies of the sural nerve and left quadriceps muscle did not show evidence of myositis or vasculitis and Congo Red staining showed no evidence of amyloid.

Echocardiogram and subsequent cardiac MRI revealed abnormal asymmetric thickening of the musculature with late gadolinium enhancement, raising the possibility of cardiac amyloid involvement. A subsequent cardiac biopsy elicited the diagnosis of amyloidosis. Genetic testing sent earlier in his admission discovered a positive TTR:c.210T>G (Ser70Arg) mutation causative of hTTR familial amyloid polyneuropathy. He also underwent expert assessment in the National Amyloidosis Centre in the Royal Free Hospital, London.

This is a rare mutation in this gentleman’s ethnicity. Interestingly, he is doing well at 3 year follow-up on diflunisal therapy used as a TTR tetramer stabilizer and his symptoms have almost entirely resolved.