Objective To study the clinical and genetic features of familiar amyloid polyneuropathy (FAP). Methods Three families of suspected FAP in China mainland and Macao were investigated on aspects of clinical manifestation...Objective To study the clinical and genetic features of familiar amyloid polyneuropathy (FAP). Methods Three families of suspected FAP in China mainland and Macao were investigated on aspects of clinical manifestations, histological features, and gene analysis. Results All the 3 families had the clinical features of sensory and motor polyneuropathies, and notable vegetative nerve involvements. Affected cases of one family had ultrasound proved cardiomyopathy. Histological studies showed amyloid deposition in all the biopsy tissues of the affected cases of the 3 families, and anti-transthyretin antisera staining was positive in 3 cases of one family. Gene analysis confirmed that mutation types were amyloidogenic transthyretin (ATTR) Val30Met, Phe33Val, and Gly67Glu in the 3 families respectively. The ATTR Gly67Glu family had a shorter survival time due to the heart involvement compared with the other 2 families. Conclusion FAP is an autosomal dominant inherited disease, with its clinical manifestations related to the type of genetic mutation.展开更多
We report an unusual case of primary amyloidosis of the stomach in a patient complaining of dyspeptic symptoms. The diagnosis was confirmed histologically and other gastrointestinal site or systemic involvement was ru...We report an unusual case of primary amyloidosis of the stomach in a patient complaining of dyspeptic symptoms. The diagnosis was confirmed histologically and other gastrointestinal site or systemic involvement was ruled out. Uncharacteristic dyspeptic symptoms may hide this rare metabolic disease.展开更多
We report a case of isolated gastrointestinal metastasis from breast Iobular carcinoma, which mimicked primary anal cancer. In July 2000, an 88-year-old woman presented with infiltrating Iobular cancer （pT1/G2/N2）. ...We report a case of isolated gastrointestinal metastasis from breast Iobular carcinoma, which mimicked primary anal cancer. In July 2000, an 88-year-old woman presented with infiltrating Iobular cancer （pT1/G2/N2）. The patient received postoperative radiotherapy and hormonal therapy. Four years later, she presented with an anal polypoid lesion. The mass was removed for biopsy. Immunohistochemical staining suggested a breast origin. Radiotherapy was chosen for this patient, which resulted in complete regression of the lesion. The patient died 3 years after the first manifestation of gastrointestinal metastasis. According to the current literature, we consider the immunohistochemistry features that are essential to support the suspicion of gastrointestinal breast metastasis, and since we consider the gastrointestinal involvement as a sign of systemic disease, the therapy should be less aggressive and systemic.展开更多
文摘Objective To study the clinical and genetic features of familiar amyloid polyneuropathy (FAP). Methods Three families of suspected FAP in China mainland and Macao were investigated on aspects of clinical manifestations, histological features, and gene analysis. Results All the 3 families had the clinical features of sensory and motor polyneuropathies, and notable vegetative nerve involvements. Affected cases of one family had ultrasound proved cardiomyopathy. Histological studies showed amyloid deposition in all the biopsy tissues of the affected cases of the 3 families, and anti-transthyretin antisera staining was positive in 3 cases of one family. Gene analysis confirmed that mutation types were amyloidogenic transthyretin (ATTR) Val30Met, Phe33Val, and Gly67Glu in the 3 families respectively. The ATTR Gly67Glu family had a shorter survival time due to the heart involvement compared with the other 2 families. Conclusion FAP is an autosomal dominant inherited disease, with its clinical manifestations related to the type of genetic mutation.
文摘We report an unusual case of primary amyloidosis of the stomach in a patient complaining of dyspeptic symptoms. The diagnosis was confirmed histologically and other gastrointestinal site or systemic involvement was ruled out. Uncharacteristic dyspeptic symptoms may hide this rare metabolic disease.
文摘We report a case of isolated gastrointestinal metastasis from breast Iobular carcinoma, which mimicked primary anal cancer. In July 2000, an 88-year-old woman presented with infiltrating Iobular cancer （pT1/G2/N2）. The patient received postoperative radiotherapy and hormonal therapy. Four years later, she presented with an anal polypoid lesion. The mass was removed for biopsy. Immunohistochemical staining suggested a breast origin. Radiotherapy was chosen for this patient, which resulted in complete regression of the lesion. The patient died 3 years after the first manifestation of gastrointestinal metastasis. According to the current literature, we consider the immunohistochemistry features that are essential to support the suspicion of gastrointestinal breast metastasis, and since we consider the gastrointestinal involvement as a sign of systemic disease, the therapy should be less aggressive and systemic.
