Addison’s disease which is due to dysfunction of the adrenal gland, with abnormal secretion of glucocorticoids and mineralocorticoids, is rare. By inducing inflammation and disorders of water and electrolyte metabolism, Addison’s disease may accelerate progression of co-existed cardiovascular diseases. Addison’s disease combined with cardiovascular disease is infrequent, only 10 cases in the literature. In this case a 51-year-old male patient with unstable angina pectoris and hypotension is reported. Changes on coronary angiography within 2 years suggest rapid progression of coronary artery disease in a patient with low cardiovascular risk. An additional clue of skin hyperpigmentation, fatigue and further examination confirm the diagnosis of Addison’s disease caused by adrenal tuberculosis. After hormone replacement treatment, the frequency and severity of the angina pectoris are alleviated significantly, as were hypotension, hyperpigmentation and fatigue. The combination of Addison’s disease and coronary artery disease in one patient is rare. Addison’s disease can induce inflammation and disorders of water and electrolyte metabolism, which may further accelerate the course of coronary artery disease. Meanwhile, the hypotension in Addison’s disease may affect the coronary blood flow, which may result in an increased susceptibility to unstable angina in the presence of coronary stenosis. Read the full article here.
informer
Thrombotic thrombocytopenic purpura (TTP) is considered to be a rare cause of ischemic stroke (IS). A case of a newly diagnosed patient with acquired immune-mediated TTP (iTTP) is reported, in whom two IS events developed during 48 h. A 59-year-old diabetic male is presented to the hospital 24 h after symptoms onset, including left hemiparesis, dysarthria, and decreased consciousness. A brain CT scan is performed with the suspicion of acute IS, indicating infarct lesions in the right middle cerebral artery (MCA) territory. The patient is not eligible for thrombolytic therapy due to admission delay. Over the next 24 h, the patient’s neurological condition deteriorates, and the second brain CT scan shows new ischemic lesions. Initial laboratory evaluation indicates thrombocytopenia without evidence of anemia. However, in the following days, thrombocytopenia progresses, microangiopathic hemolytic anemia (MAHA) develops and the diagnosis of iTTP is confirmed. The patient undergoes plasma exchange, pulse IV methylprednisolone and Rituximab is also added due to the refractory course of the disease. After a prolonged hospital course, he has considerable neurologic recovery and is discharged. Thrombotic thrombocytopenic purpura should be considered in any patient presenting with IS and having thrombocytopenia or anemia without other symptoms of TTP. Read the full article here.
Multisystem inflammatory syndrome after COVID-19 in childhood and genetic predisposition
Multisystem inflammatory syndrome in children (MIS-C) occurs 3-6 weeks after COVID-19. Clinical symptoms of MIS-C include fever, rash, conjunctivitis, gastrointestinal or other organ symptoms, including cardiac dysfunction. The incidence of MIS-C is 2 / 100 000 children with SARS-CoV-2.It is crucial to know why MIS-C is not observed in all children after COVID-19. To date, several candidate genes associated with the development of MIS-C have been proposed as predisposing factors. The small number of proposed genes is probably also related to the relatively small size of the cohorts of children with MIS-C. A large number of studies related to genetic predisposition to this condition are not yet available. This review describes the studies that have been published up to date. The full text of the article can be read here.
Институтът по редки болести и Асоциация на студентите медици – Пловдив с подкрепата на Национален алианс на хора с редки болести и Община Пловдив организират фотоконкурс за всички студенти от медицинските университети в страната с влечение към фотографията и интерес към редките болести.
Медицинската наука е открила между 5 000 и 8 000 отделни редки заболявания, които засягат между 6% и 8% от населението. Въпреки че дадена рядка болест обикновено засяга малък брой хора, общият брой на пациентите с редки заболявания хора в ЕС е между 27 млн. и 36 млн. души. Един от основните ключове за подобряването на грижите към тези хора и техните семейства е повишаването на информираността и видимостта на тези заболявания в самата здравна система и сред обществото като цяло. Настоящият конкурс се провежда по случай на Международния ден на редките болести – 28 февруари – и има за цел именно да допринесе за по-доброто познаване и разбиране на редките заболявания сред студентите от медицинските университети.
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The aim of this article is to evaluate cost-effectiveness of combination therapy with SSA (somatostatin analogue) + pegvisomant compared to monotherapy with SSA in patients with acromegaly in Bulgaria. The study is prospective as data on the effectiveness (change in insulin-like growth factor 1 (IGF-1) levels (nmol/l),) among patients with acromegaly treated at “Acad. I. Penchev” Hospital. The incremental cost-effectiveness ratio (ICER) was 15 651.74 BGN for additional 1 nmol/l reduction in IGF-1, which represents the additional cost to be paid per 1 unit incremental outcome for treatment with the combination therapy. The ICER was below the upper cost-effectiveness threshold of 3 times the gross domestic product per capita according to a model developed by the World Health Organization. 30% reduction in the cost of SSA+Pegvisomant was accompanied by the most significant impact on ICER. The probability SSA+Pegvisomant therapy to be cost-effective is 61.4% when the willingness to pay threshold is 35 230.52 BGN additional cost per unit of incremental improvement. The full text of the article can be read here.
Urticaria is classified, according to its duration, as acute and chronic. The latter itself is subdivided into spontaneous and inducible. Autoimmunity can play a role in the development of chronic spontaneous urticaria. Antithyroid autoantibodies, especially anti-thyroid peroxidase, represent the close connection between urticaria and autoimmune pathology of thyroid gland, determining the comorbidity of these conditions that is not seldom observed in clinical practice. Thyroid disfunction should also be considered in idiopathic angioedema (with unknown etiology). In chronic spontaneous urticaria, associated with Hashimoto’s thyroiditis, can be found subclinical hypothyroidism, alongside autoimmune activity. Improvement of urticaria / angioedema symptoms after hormone therapy with levothyroxine in appropriate doses proves the impact of thyroid autoimmunity on the emergence and progression of the cutaneomucosal manifestations.The rare clinical case we present contributes to clarification of the association between marked cutaneomucosal alterations and immunologically active autoimmune thyroiditis, emphasizes the significance of early and directed testing of thyroid hormones and autoantibodies in patients with urticaria / angioedema and shows the favorable therapeutic effect from adding L-Thyroxine to treatment regimen. Interdisciplinary collaboration between specialists in allergology and endocrinology is important in terms of opportune and accurate diagnosing in associated with Hashimoto’s thyroiditis cases of urticaria / angioedema. The full text of the article can be read here.
На 7 октомври 2022 г. в гр. София за 9-ти пореден път предстои да се проведе Mеждународния симпозиум за оценка на здравни технологии с фокус редки болести и лекарства сираци.
Традиционно този форум се организира от Институт по редки болести, като тази година инициативата е подкрепена и от световната организация International Collaboration on Rare Diseases and Orphan Drugs.
Основна тема на симпозиума “Impact of EU HTA Regulation on Rare Diseases and Orphan Drugs” e приетият в края на 2021 г. Регламент (ЕС) 2021/2282 относно оценката на здравните технологии.
Събитието събира заедно всички заинтересовани страни – експерти от здравни власти, представители на академичната общност, Националния алианс на хората с редки болести и индустрия.
Международните лектори са експерти от Белгия, Великобритания, Испания, Италия, Полша и Холандия, като в рамките на симпозиума ще бъде обсъден регламента в два негови аспекта – непосредственото планиране на прилагането му на национално и европейско ниво, както и въздействието на този нормативен акт върху достъпа до иновативни терапии.
IX международен симпозиум за оценка на здравни технологии е част от инициативите на Институт по редки болести подкрепящи постигането на основната му цел – подобряване на здравните грижи и живота на хората с редки болести.
(Български) Европейски препоръки за прилагане на пълно геномно секвениране при диагностика на редки заболявания
Sorry, this entry is only available in Bulgarian.
Sorry, this entry is only available in Bulgarian.
Sorry, this entry is only available in Bulgarian.