Publications by authors named "Mirela Draghici"
: Amyloidosis is a disorder characterized by the abnormal folding of proteins, forming insoluble fibrils that accumulate in tissues and organs. This accumulation disrupts normal tissue architecture and organ function, often with serious consequences, including death if left untreated. Light-chain amyloidosis (AL) and hereditary transthyretin-type amyloidosis (hATTR) are two of the most common types.
View Article and Find Full Text PDFAim And Methods: We conducted a retrospective observational study of the ATTRv heterozygous mutation frequency, phenotype, and all-cause mortality at two cardiac amyloidosis centers in Romania and France.
Results: 291 patients were included: 26 Glu54Gln (all Romanian), 200 Val122Ile, 47 Val30Met and 18 Ser77Tyr. On diagnosis, Gu54Gln patients were younger than Val122Ile or late-onset Val30Met (median age: 46 [42-50], 76 [71-80] and 70 [61-76], respectively; p < 0.
Article Synopsis
- The study aims to create a diagnostic algorithm for distinguishing between the two most common types of systemic amyloidosis: ATTR and AL.
- Researchers analyzed 81 patients over four years, reviewing clinical evaluations and biomarker levels, finding notable differences in age and heart-related measurements between the two groups.
- A scoring system developed from the data helps differentiate between ATTR and AL patients, with a score of 4 or higher indicating a higher likelihood of having AL over ATTR.
Rationale: Muscle pseudohypertrophy is a rare manifestation of light chain amyloidosis (AL) amyloidosis.
Patient Concerns: A 63-year-old woman presented with a 2-year history of progressive asthenia, macroglossia, dysphonia, cachexia, hypotension, paresthesia, and lower limb muscle hypertrophy.
Diagnosis: Free serum lambda light chains were increased, and fat pad biopsy demonstrated Congo red-positive deposits.
We present the case of a 65-year-old female, with no prior medical history, who came to our attention for painful paresthesias involving the distal lower limbs and progressive gait disturbance, accompanied by fatigue, involuntary weight loss, xerophthalmia and xerostomia. Due to a right-sided cervical tumefaction, cervical MRI was performed and revealed an enlarged right parotid gland. Electroneurography confirmed the presence of a chronic sensorimotor axonal neuropathy with active denervation.
View Article and Find Full Text PDFBackground: In Romania, 23 patients have been diagnosed with hereditary transthyretin amyloidosis (ATTRh), 18 of whom have the Glu54Gln mutation. This retrospective cohort included all patients with Glu54Gln-mutated ATTRh who were diagnosed in Romania from 2005 to 2018.
Results: Of 18 patients, 10 were symptomatic, five were asymptomatic carriers and three died during the study.