The first family group of α1-AT-P in the world with repeated hematomas: 10-year follow-up

Abstract

This case report describes the first 10-year follow-up report worldwide of a patient with the genetic variation alpha-1-antitrypsin-Pittsburgh mutation (α1-AT-P). The mutation was confirmed in a 16 year-old Chinese girl after she presented with repeated hematomas, and the mutation with bleeding tendency was also verified in her father. α1-AT-P is a spontaneously occurring autosomal dominant point mutation of α1-antitrypsin, in which methionine-358 is substituted by an arginine derivative. α1-AT-P cases are extremely rare, with only eight reported worldwide. Consequently, there is insufficient experience in the diagnosis and treatment of α1-AT-P. We followed up and reviewed the last 10 years of treatment of a young patient who suffered from repeated life-threatening hematomas, underwent emergency surgery five times, and had her ovaries removed in her twenties to avoid ovulation hemorrhage. The purpose of this article is to raise the awareness of α1-AT-P mutation and to improve its prognosis, especially in female patients.

Chinese abstract

该病例报告描述了世界范围第一个具有α-1-抗胰蛋白酶 - 匹兹堡突变（α1-AT-P）遗传变异的患者的10年随访报告。 一个16岁的中国女孩在出现反复血肿后证实了存在该突变, 并且其父亲也被证实存在出血倾向的突变。 α1-AT-P是α1-抗胰蛋白酶的自发性常染色体显性遗传位点突变, 其中甲硫氨酸-358被精氨酸衍生物取代。 α1-AT-P病例非常罕见, 全世界只报告了8例。因此, α1-AT-P的诊断和治疗经验尚不足。我们随访并回顾了过去10年对一名反复出现危及生命血肿的年轻患者的治疗。该患者接受了五次紧急手术, 并在二十多岁时切除了卵巢, 以避免排卵期出血。 本文的目的是提高医生对α1-AT-P突变的意识, 改善其预后, 尤其是女性患者。

Keywords:

• α1-AT-P
• repeated hematomas
• hormone replacement therapy
• family group
• primary ovarian insufficiency

Acknowledgements

The authors would like to give thanks to the patient and her family for their cooperation.

Potential conflict of interest

No potential conflict of interest was reported by the authors.

Source of funding

The study was supported by the first batch of Beijing maternal and child health specialist demonstration units ‘menopausal health specialist’ [2018/01-2020/12]; Beijing Municipal Administration of Hospitals’ Ascent Plan [DFL20181401]; Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support [code: XMLX201710]; Capital’s Funds for Health Improvement and Research [2016-2-2113]; Beijing Municipal Science & Technology Commission [Z161100000516143]; Beijing Municipality Health Technology High-level Talent [2014-2-016]; National Natural Science Foundation of China [81671411]; China International Talent Exchange Association Medical Health Technology Innovation and Talent Training Special Fund [2017041900004, 2018042000001]; Project for Key Foreign Experts [20181100005]; High-End Foreign Experts Project.