The Skill Checkup series provides a quick, case-style interactive quiz, highlighting key guideline- and evidence-based information to inform clinical practice.
A 52-year-old White man in Europe was referred to a gastroenterologist for evaluation of weight loss and diarrhoea. He reported a gradual onset of loose stools over 12 months, without blood or change in stool calibre. About 1 year earlier, he experienced mild numbness and a burning sensation that began in his hands and, after a few months, spread to his feet. There was no weakness either subjectively or on neurologic examination. He has type 2 diabetes well controlled (last glycosylated haemoglobin was normal) with metformin and a glucagon-like peptide-1 agonist. He said that his father died of a neurologic disorder that he could not describe.
A faecal immunochemical test within the past year was normal. He also had a normal screening colonoscopy 6 years earlier. Stool testing for ova and parasites was negative. Contrast-enhanced CT of the abdomen and pelvis did not show evidence of neoplasm.
Esophagogastroduodenoscopy and colonoscopy were both unremarkable, including random biopsies. Initial blood workup demonstrated mild normocytic anaemia (haemoglobin of 127-132 g/L) and normal C-reactive protein. Neuropathic workup was normal. Nerve conduction studies, performed 2 years earlier, were also normal. The clinician considered choleraic diarrhoea, and the patient was started on colestipol, with some clinical response.
At clinical follow-up 1 year later, he had worsening numbness and burning in his hands and feet. He reported new symptoms of bladder urgency, erectile dysfunction and orthostatic lightheadedness without syncope. His haematologic parameters had also gradually worsened, with mild leukopaenia (total white blood cell count nadir of 3.1 × 109/L) in addition to anaemia.
His symptoms of peripheral and autonomic neuropathy and unexplained gastrointestinal symptoms raised suspicion for amyloidosis. Previous duodenal biopsies were re-examined and demonstrated amyloid deposition. A bone marrow biopsy owing to investigated blood cell count abnormalities showed similar findings. Mass spectrometry yielded a peptide profile consistent with transthyretin-type amyloid deposition. Genetic analysis revealed the p.Glu89Gln mutation in transthyretin (TTR).
Neuromuscular examination was notable for mild weakness of intrinsic hands and feet muscles and sensory loss to pinprick extending to his elbows and knees. Repeat nerve conduction studies showed a sensorimotor axonal polyneuropathy, consistent with amyloidosis-related neuropathy.
An echocardiogram showed normal ventricular function with mildly increased left ventricular wall thickness (13.5 mm). Nuclear scintigraphy with bone tracers showed heart amyloid deposition (Perugini score 3).
Medscape © 2022 WebMD, LLC
Any views expressed above are the author's own and do not necessarily reflect the views of WebMD or Medscape.
Cite this: Marco Luigetti. Skill Checkup: A 52-Year-Old Man With Type 2 Diabetes, Gradual Onset of Loose Stools and Mild Burning in Hands and Feet - Medscape - Aug 18, 2022.