De Pasqual A, Biessaux Y, Blettard N, Crémers S, Caers J
Department of Haematology, CHU Liège, Belgium.
Department of Cardiology, CHU Liege, Belgium.
Acta Clin Belg. 2013 Jul-Aug;68(4):303-5. doi: 10.2143/ACB.3268.
We report the diagnosis of hereditary amyloidosis that affected a Belgian family that was initially diagnosed in a 73 year old woman. This patient was admitted with complaints of congestive heart failure. Cardiac work-up showed myocardial hypertrophy with zones of hyperintensity, suggestive for amyloidosis that was confirmed on a rectal biopsy. A hereditary form of amyloidosis was found by showing the Val30Met mutation within the transthyretin gene, that was also found in her asymptomatic son. This case shows that genetic testing is crucial in cases of unexplained amyloidosis and can help in the diagnosis and follow-up of patients and family members.
我们报告了一例遗传性淀粉样变性病的诊断，该病影响了一个比利时家庭，最初在一名73岁女性中被诊断出来。该患者因充血性心力衰竭入院。心脏检查显示心肌肥厚并有高强度区域，提示淀粉样变性病，经直肠活检得以证实。通过在转甲状腺素蛋白基因中发现Val30Met突变，发现了一种遗传性淀粉样变性病形式，在她无症状的儿子中也发现了该突变。该病例表明，基因检测在不明原因的淀粉样变性病病例中至关重要，有助于患者及其家庭成员的诊断和随访。
