Amyloidosis is characterized by the extracellular deposition of highly-organized fibrillar aggregates showing a cross-beta super-secondary structure (1). Several proteins are amyloidogenic in humans, resulting in different clinical presentations, either systemic or localized. Transthyretin-related hereditary amyloidosis (ATTR) is a late-onset, dominantly inherited systemic amyloidosis. Heterozy...

Background Carpal tunnel syndrome (CTS) is one of the most common clinical manifestations of TTR-related amyloidosis, both hereditary (ATTR), and wild type (senile systemic amyloidosis, SSA) and often precedes cardiac symptoms. The exact prevalence of CTS in light-chain amyloidosis (AL), ATTR and SSA is not known. We therefore aimed to establish prevalence, risk factors and possible association...

BACKGROUND Immunoglobulin amyloid light-chain (AL)-related cardiac amyloidosis (CA) has a worse prognosis than either wild-type (ATTRwt) or mutant (ATTRm) transthyretin (TTR) CA. Detailed echocardiographic studies have been performed in AL amyloidosis but not in TTR amyloidosis and might give insight into this difference. We assessed cardiac structure and function and outcome in a large populat...

There are two major forms of amyloidosis, primary amyloidosis (AL) and secondary amyloidosis. AL amyloidosis results from deposition of immunoglobulin light chains or their fragments. One such example is AL amyloidosis associated with multiple myeloma, in which overproduced immunoglobulin light chains get deposited onto tissues, leading to tissue dysfunction. Amyloidosis in the intestines can p...

BACKGROUND AND AIMS The liver is frequently involved in amyloidosis but the significance of hepatic amyloid has not been systematically studied. We have previously developed scintigraphy with 123I serum amyloid P component (123I-SAP) to identify and monitor amyloid deposits quantitatively in vivo and we report here our findings in hepatic amyloidosis. METHODS Between 1988 and 1995, 805 patien...

Comment The histological appearance of the amyloid (apple green birefringence under polarised light after staining with Congo red and resistance to pretreatment with potassium permanganate) in each case was consistent with dialysis related amyloidosis and not deposition of AA amyloid. In both patients immunohistology showed strong positivity of the amyloid deposits for P2 microglobulin and weak...

Background Glu89Gln transthyretin (TTR) variant is a well-known cause of systemic amyloidosis with a cardiologic, neurologic or mixed phenotype. Even though Glu89Gln transthyretin (TTR) variant has been described worldwide, it remains unknown whether geographical area influences the phenotypic expression of the disease (as happens with the Val30Met mutation, which is known to manifest with diff...

Transthyretin-related cardiac amyloidosis is a progressive infiltrative cardiomyopathy that mimics hypertensive and hypertrophic heart disease and often goes undiagnosed. In the United States, the hereditary form disproportionately afflicts black Americans, who when compared with whites with wild-type transthyretin amyloidosis, a phenotypically similar condition, present with more advanced dise...

Heart failure is a common clinical syndrome caused by a variety of cardiac diseases. We report a rare case of familial transthyretin amyloidosis cardiomyopathy to heighten the awareness of this rare but lethal cause of heart failure, as therapeutic interventions such as liver or heart transplant could be curative in selected patients.

amyloidosis cutis dyschromica (acd) is a rare form of macular amyloidosis characterized by hypo and hyperpigmented macules. here we described a 20 year old girl with diffuse hypo and hyperpigmentation since she was four years old. five other members of her family are also involved. biopsy of hyperpigmented lesions revealed increase of melanin in the basal layer, pigment incontinence and amorpho...