When Amyloidosis Inherens Mimics Diabetic Neuropathy

Abstract

Diabetic neuropathy is a common complication, but what if the culprit is something entirely different? This review explores Amyloidosis Inherens (hATTR amyloidosis), a rare genetic disorder that can masquerade as diabetic neuropathy, leading to diagnostic delays and potential complications. We delve into the clinical presentation similarities, diagnostic challenges, and importance of early and accurate diagnosis for optimal patient management.

Introduction

Peripheral neuropathy, characterized by weakness, numbness, and pain in the extremities, is a frequent complication of diabetes. However, a hidden villain can sometimes lurk behind these symptoms – Amyloidosis Inherens. This review sheds light on hATTR amyloidosis, a hereditary condition where abnormal protein deposits (amyloid) infiltrate organs, causing progressive dysfunction. When these deposits target nerves, the clinical presentation can mimic diabetic neuropathy, posing a significant diagnostic challenge.

The Deceptive Doppelganger: Similarities in Clinical Presentation

Both diabetic neuropathy and hATTR amyloidosis can present with:

• Distal symmetrical peripheral neuropathy: Numbness, tingling, burning pain, and weakness, typically starting in the feet and hands and progressing upwards.

• Autonomic neuropathy: Symptoms like difficulty controlling bladder function, erectile dysfunction, and gastrointestinal issues.

• Sensory loss: Reduced ability to feel pain, temperature, or vibration.

These overlapping symptoms can lead to misdiagnosis as diabetic neuropathy, particularly in patients with pre-existing diabetes.

Unmasking the Imposter: Diagnostic Challenges

Distinguishing hATTR amyloidosis from diabetic neuropathy requires a high degree of suspicion and additional investigations:

• Detailed medical history: Family history of neuropathy, unexplained proteinuria (excess protein in urine), and carpal tunnel syndrome can raise suspicion for hATTR.

• Neurological examination: Atypical distribution of neuropathy or autonomic symptoms beyond what's typical for diabetes can be a clue.

• Serum protein electrophoresis (SPE) and other blood tests: Abnormal protein patterns in blood can suggest hATTR.

• Genetic testing: Confirmation of hATTR-associated mutations provides definitive diagnosis.

• Advanced imaging: Cardiac and nerve-specific scans can aid in diagnosis and assess disease severity.

The Importance of Early Diagnosis and Targeted Management

Early and accurate diagnosis of hATTR amyloidosis is crucial. Unlike diabetic neuropathy, hATTR is a progressive and potentially life-threatening condition with specific treatment options, including:

• Liver transplantation: For patients with the most common form of hATTR.

• Novel therapies: Gene silencing therapies and medications to stabilize amyloid deposits are emerging treatment options.

Delayed diagnosis can lead to irreversible nerve damage and organ dysfunction, highlighting the importance of considering hATTR amyloidosis in the differential diagnosis of peripheral neuropathy, even in diabetic patients.

Conclusion

hATTR amyloidosis is a cunning imposter that can mimic diabetic neuropathy. By raising awareness of this condition and its diagnostic challenges, we can ensure timely and accurate diagnosis, leading to improved patient outcomes and better management of this complex disease.