Vol 86, No 12-2 (2014)


The problem of rare (orphan) diseases in the Russian Federation: Medical and normative legal aspects of its solution

Novikov P.V.


The paper gives an update on orphan (rare) hereditary and congenital diseases and their definitions and considers approaches to estimating their incidence and prevalence and the existing problems of their diagnosis and treatment in the world and our country. It lists the hereditary diseases and syndromes belonging to rare conditions. The paper presents (considers) the most relevant problems of rare diseases, which call for priority solution.
Terapevticheskii arkhiv. 2014;86(12-2):3-12
pages 3-12 views

Economic assessment of drugs for rare diseases: Must it be done, if yes, which are its features?

Plavinskiĭ S.L.


The orphan drug laws enacted firstly in the USA and then in some other countries have given rise to a specific market of drugs for rare diseases and to a drastic increase in the number of proposed drugs. At the same time, the prices for innovative drugs are frequently high, have resulted in debates about their cost effectiveness and the drugs for rare diseases being frequently difficult to be tested for their efficacy due to disease rarity. The article discusses the designs of clinical trials that could enhance their effectiveness, gives examples of standard-design trials, and notes that effectiveness evaluations can be obtained for most diseases, but with a small sample, they will not be very precise, which makes cost-effectiveness analysis difficult. In this connection, a number of mechanisms proposed worldwide to solve the existing situation are discussed.
Terapevticheskii arkhiv. 2014;86(12-2):13-18
pages 13-18 views

Hypogammaglobulinemic sprue is a rare concurrence of primary immunodeficiency and celiac disease

Parfenov A.I., Krums L.M., Gudkova R.B., Khomeriki S.G.


Hypogammaglobulinemic sprue (HGGS) belongs to orphan (rare) diseases. Its basis is a concurrence of primary immunodeficiency and celiac disease. The clinical picture of HGGS is characterized by recurrent bacterial infection foci, chronic diarrhea, and severe malabsorption syndrome (MAS). Immunological changes are exhibited by a decrease in the serum levels of γ-globulins (GG), immunoglobulins (Ig) A and G, and, to a lesser extent, IgM and B lymphocytes. The peculiarity of the morphological pattern of HGGS is the atrophy of the gastric mucosa and small bowel mucosal villi, which is accompanied by lymphocytic infiltration, formation of lymphoid follicles in the proper mucosal plate, and a drastic drop in plasma cells. It is precisely these signs that serve as a basis for identifying HGGS as an independent nosological entity. Its management is to be on a life-long gluten-free diet (GFD), to administer GG or Ig monthly, to correct metabolic disturbances, and to treat focal infections. The paper describes a case history of a female patient with HGGS. The disease was characterized by recurrent lung and kidney inflammatory foci concurrent with chronic diarrhea and grade 3 MAS. There was a dramatic reduction in GG, IgG, and IgA levels. Clinical remission and small intestinal mucosal structural recovery occurred due to GFD.
Terapevticheskii arkhiv. 2014;86(12-2):19-21
pages 19-21 views

Giant abdominal urate tumor-like mass with multiple crystalline deposits in the bowel and lung walls in a patent with terminal heart failure

Moiseev V.S., Varshavskiĭ V.A., Shavarov A.A., Reshetin V.V., Petrov A.A.


The paper describes a unique case of a large abdominal urate mass with a peculiar inflammatory process with giant cells and smaller urate deposits in the lung and small bowel without articular changes and kidney injury in a patient with terminal heart failure.
Terapevticheskii arkhiv. 2014;86(12-2):22-25
pages 22-25 views

Mesenteric inflammatory veno-occlusive disease is a rare nosological entity: Literature review and the authors' clinical observation

Khat'kov I.E., Rotin D.L., Parfenov A.I., Vasnev O.S., Izrailov R.E., Shcherbakov P.L., Poleva N.I., Karpeeva A.A.


Mesenteric inflammatory veno-occlusive disease (MIVOD) is a rare disease. Its basis is inflammation of the small and medium-sized mesenteric veins, which is generally complicated by thrombosis and intestinal ischemia. Arteries are not therewith involved in the process. According to the location, either ischemic jejunitis (ileitis) or segmental colitis develops. The etiology and incidence of MIVOD are unknown. Only a few tens of descriptions of clinical cases have been published. MIVOD is differentially diagnosed with Crohn's disease and vasculitides (Behçet's syndrome, Buerger's syndrome, rheumatoid arthritis, and systemic lupus erythematosus). The paper presents a MIVOD patient with partial thrombosis of portal, superior mesenteric and splenic veins, pylephlebitis, extrahepatic portal hypertension and with ischemic jejunitis complicated by fistulas, subcompensated stenosis, and seropurulent peritonitis. At laparotomy, an infiltrate with multiple interintestinal abscesses and a 40-cm jejunal segment with 4 fistular openings up to 1.5 cm in diameter and necrotic walls were removed and an interintestinal anastomosis was applied. A morphological examination of the operative material detected thrombi, stases, and pronounced plethora of the veins with fibrinoid changes in their walls. The lumen of arterial vessels of different diameters was free. No signs of systemic vasculitis and Crohn's disease were found. The postoperative period was uncomplicated.
Terapevticheskii arkhiv. 2014;86(12-2):26-30
pages 26-30 views

Morphological verification of renal lesion as a compulsory stage in the diagnosis of Fabry disease

Glybochko P.V., Mukhin N.A., Svistunov A.A., Fomin V.V., Brovko M.I., Varshavskiĭ V.A., Moiseev S.V., Shilov E.M., Panasiuk V.V.


The paper describes a case of Fabry disease in a patient in whom kidney biopsy enabled the renal lesion be characterized in detail. Fabry nephropathy-associated kidney tissue changes, including renal lesion, have been verified using electron microscopy of renal tissue.
Terapevticheskii arkhiv. 2014;86(12-2):31-34
pages 31-34 views

Поражение сердца при системных васкулитах: патогенетические звенья, значение факторов риска развития сердечно-сосудистых осложнений и диагностика

Strizhakov L.A., Moiseev S.V., Kogan E.A., Pasha S.P., Churganova L.I., Ditterle V.E., Novikov P.I., Semenkova E.N., Mukhin N.A.


AIM. To study the rate and types of cardiac involvement, the patterns of cardiovascular events (CVE) and to determine the importance of risk factors for atherosclerosis and the role of noninvasive methods in the diagnosis of cardiovascular diseases in patients with systemic vasculitides (SV). MATERIALS AND METHODS. Three hundred and twenty-one patients with SV, including 138 (42.8%) with granulomatosis and polyangiitis (Wegener's granulomatosis) (GPA), 79 (24.7%) with Takayasu's arteritis (TA), 55 (17.2%) with polyarteritis nodosa (PAN), and 49 (15.3%) with eosinophilic granulomasis and polyangiitis (EGPA) (Churg-Strauss syndrome), were examined in 1989 to 2011. The clinical manifestations of the disease were studied retrospectively in 153 (47.6%) patients examined in 1989 to 2004 and prospectively in 168 (52.4%) patients examined in 2005 to 2011. The investigators performed EchoCG in the examinees prospectively, myocardial perfusion scintigraphy (PSG) in 92 patients, and multislice spiral computed tomography (MSCT) of coronary vessels in 32. The SCORE scale was employed to study risk factors for CVE. The data of cardiac and vascular morphological examinations were analyzed in 55 patients. RESULTS. Heart damage as a major visceral injury in SV was detected in 63.3% of the cases with TA, in 70.9% of those with PAN, in 67.3% of those with EGPA, and in 48.5% of those with GPA. CVEs were diagnosed in 51 (15.9%) of the 321 patients. The rate of CVEs turned out to be higher in the patients with EGPA (22.3%) and PAN (18.2%) and slightly below in those with GPA (14.5%) and TA (12.6%). Echocardiography revealed aortic regurgitation in 28.5% of the patients with TA, left ventricular hypertrophy in 47% and diastolic dysfunction in 55% of those with PAN, pericarditis in 16 and 8% of those with EGPA and GPA, respectively; the signs of myocardial dilatation were diagnosed more frequently in EGPA (18.3%) than in other SVs. PSG diagnosed various myocardial perfusion disorders in 59% of the patients with SV; at the same time, focal changes prevailed over diffuse ones in the patients with PAN (45.8%) and EGPA (50%), diffuse ones in those with GPA (42.3%); these disorders being approximately equally frequently found in TA. MSCT revealed coronary calcification in 66% of the patients with GPA, 62.5% of those with EGPA, in 50% of those with PAN, and in 14.3% of those with TA. Postmortem examination displayed atherosclerotic changes in one or more great arteries in 28 (50.9%) of 55 dead patients. Deaths from cardiovascular causes were noted in 18 (30.9%) patients with SV. The causes of death were stated to be an acute cerebrovascular accident in 14.5% of the patients, myocardial infarction in 9.1%, and chronic heart failure in 7.3%. CONCLUSION. The cardiac manifestations of SV are associated with immune inflammation and concomitant hypertension and atherosclerosis. The combination of traditional RFs for atherosclerosis and SV in the same patient allows the latter to be assigned to a very high CVE risk group. Early heart damage diagnosis using non-invasive methods provides a way of optimizing the further management tactics in patients with SV.
Terapevticheskii arkhiv. 2014;86(12-2):35-42
pages 35-42 views

Clinical observation of Behçet's disease in a 33-year-old woman

Zhulimova N.L., Zil'berberg N.V., Levchik N.K.


The paper describes a clinical case of Behçet's disease accompanied by oral aphthous elements and external genital sores. The disease occurred after an infectious and inflammatory process in the oropharynx; chronic erythema nodosum and arthritides were successively diagnosed. A set of anamnestic data and clinical and laboratory examinations could establish a correct diagnosis.
Terapevticheskii arkhiv. 2014;86(12-2):43-46
pages 43-46 views

Giant cell arteritis as a cause of fever of unclear genesis in the elderly

Guliaev S.V., Meshkov A.D., Novikov P.I., Moiseev S.V., Fomin V.V.


The paper describes a case of giant cell arteritis whose leading clinical sign is long-term fever. It discusses current approaches to diagnosing giant cell arteritis.
Terapevticheskii arkhiv. 2014;86(12-2):47-51
pages 47-51 views

On orphan uniqueness to standard technology

Saverskiĭ A.V.


The paper discusses the problem of free drug provision as an integral part of medical care in the amount of state guarantees and lists legislative contradictions that cause the above violation. It clarifies the concept of the drug legal status, by using examples, and on this basis considers whether the patients needing therapy with orphan drugs may have access to drug provision. The author analyzes normative legal acts regulating the drug provision in patients with rare (orphan) diseases and on this basis formulates a number of proposals to enhance both the availability of drug therapy to these patients and the efficiency of medical care to them, including suggestions to be considered by the State Duma, the Government of the Russian Federation and its subjects.
Terapevticheskii arkhiv. 2014;86(12-2):52-61
pages 52-61 views

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