Systemic Amyloidosis: Evaluating Multisystem Symptoms and Differentiating from Multiple Myeloma

Systemic amyloidosis is a complex, multisystem disease characterized by the deposition of abnormal proteins in various organs and tissues. This disorder can present insidiously, with symptoms that vary widely depending on the affected organs. Early and accurate identification of amyloidosis is crucial, especially for differentiating it from other conditions such as multiple myeloma, which may share similar clinical features.

Evaluation of Multisystem Symptoms

The clinical presentation of systemic amyloidosis can be varied and often nonspecific. Symptoms may include gastrointestinal manifestations, such as postprandial epigastric pain, to cutaneous signs like periorbital purpura and skin fragility. A reported case highlights the importance of considering amyloidosis in patients with nonspecific gastrointestinal symptoms, where a Congo Red-stained biopsy was key for diagnosis [1].

Cardiac evaluation is essential, as the heart is one of the commonly affected organs. Light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR) are the two main forms that can involve the heart, and timely diagnosis is vital for improving patient prognosis. Advances in techniques such as radioisotope scintigraphy and mass spectrometry have enhanced diagnostic capabilities, allowing for rapid identification of the type of amyloid and rational selection of therapy [2].

Differentiation from Multiple Myeloma

Differentiating between systemic amyloidosis and multiple myeloma is a clinical challenge due to overlapping symptoms and laboratory findings. In some cases, AL amyloidosis may be a manifestation of an underlying plasma cell disorder, such as multiple myeloma. A case study illustrates how a thorough evaluation, including bone marrow biopsy and serum protein electrophoresis, can reveal the presence of multiple myeloma in patients initially diagnosed with AL amyloidosis [3].

Abdominal fat biopsy is a useful diagnostic tool to confirm the presence of amyloid deposits, especially when systemic amyloidosis is suspected. This technique, along with the evaluation of monoclonal proteins, can help differentiate between these two complex conditions.

Conclusions

Systemic amyloidosis is a multisystem disease that requires a meticulous diagnostic approach for its identification and differentiation from other conditions such as multiple myeloma. The use of advanced diagnostic techniques and consideration of multisystem symptoms are essential for improving patient outcomes. Interdisciplinary collaboration and the application of new therapies can transform the prognosis of this complex disease.

Referencias

• [1] Primary systemic amyloidosis initially presenting with digestive symptoms: a case report and review of the literature.
• [2] The diagnostic challenges of cardiac amyloidosis: A practical approach to the two main types.
• [3] Symptomatic involvement of the stomach and duodenum as initial presentation of AL amyloidosis.

Created 13/1/2025