Ghouzraf Smail, Yahyaoui Hicham, Chakour Mohamed
Hematology, Avicenna Military Hospital, Marrakesh, MAR.
Cureus. 2024 Dec 29;16(12):e76595. doi: 10.7759/cureus.76595. eCollection 2024 Dec.
Congenital factor VII (FVII) deficiency is a rare genetic disorder with autosomal recessive inheritance, characterized by molecular and clinical heterogeneity. This article reports four Moroccan cases of FVII deficiency within the same family, two of which were associated with Gilbert's syndrome. The index case was a 15-year-old girl with a history of menorrhagia and jaundice. Upon examination, she presented with indirect hyperbilirubinemia, iron deficiency anemia, and a prolonged prothrombin time (PT). FVII deficiency was confirmed with a factor VII level of 45%. Her mother, a 30-year-old woman with sarcoidosis and a history of postpartum hemorrhage, was found to have jaundice and an FVII deficiency at 42%. The brother of the index case, an eight-year-old boy who was asymptomatic, was discovered to have FVII deficiency during family screening, with a level of 41%. Similarly, the six-year-old sister, also asymptomatic, had an FVII level of 33%. The prevalence of homozygous FVII deficiency is rare, and the risk is increased in consanguineous marriages. Clinical presentations vary widely, ranging from asymptomatic cases to severe bleeding episodes. Diagnosis is based on a prolonged PT with a normal activated partial thromboplastin time (aPTT) and is confirmed through FVII assays. Severe cases may require prophylactic treatment, and recombinant activated FVII (rFVIIa) is the recommended therapy for bleeding episodes. In conclusion, FVII deficiency is the most common of the rare coagulation factor deficiencies. This study explores familial congenital factor VII deficiency, characterized by varied presentations from asymptomatic to mild hemorrhagic symptoms. Early diagnosis and family screening are essential. Management includes symptomatic treatment, tranexamic acid for menorrhagia, and fresh frozen plasma or recombinant factor VIIa for bleeding episodes.
先天性因子VII（FVII）缺乏症是一种罕见的常染色体隐性遗传疾病，具有分子和临床异质性。本文报道了同一家庭中的4例摩洛哥FVII缺乏症病例，其中2例与吉尔伯特综合征相关。索引病例是一名15岁女孩，有月经过多和黄疸病史。检查时，她表现为间接胆红素血症、缺铁性贫血和凝血酶原时间（PT）延长。FVII水平为45%，确诊为FVII缺乏症。她的母亲是一名30岁女性，患有结节病且有产后出血史，发现有黄疸且FVII缺乏症，水平为42%。索引病例的弟弟是一名8岁无症状男孩，在家族筛查中发现有FVII缺乏症，水平为41%。同样，6岁无症状的妹妹FVII水平为33%。纯合子FVII缺乏症的患病率很低，近亲结婚会增加风险。临床表现差异很大，从无症状病例到严重出血发作不等。诊断基于PT延长而活化部分凝血活酶时间（aPTT）正常，并通过FVII检测得以确诊。严重病例可能需要预防性治疗，重组活化FVII（rFVIIa）是出血发作的推荐治疗方法。总之，FVII缺乏症是罕见凝血因子缺乏症中最常见的一种。本研究探讨了家族性先天性因子VII缺乏症，其表现从无症状到轻度出血症状各不相同。早期诊断和家族筛查至关重要。治疗包括对症治疗，月经过多用氨甲环酸，出血发作时用新鲜冰冻血浆或重组因子VIIa。
