Hughes-Stovin Syndrome
| Classification according to ICD-10 | |
|---|---|
| M35.2 | Behçet's disease |
| ICD-10 online (WHO version 2019) | |
The Hughes Stovin syndrome (also Hughes Stovin sequence , short HSS ) is a very rare disease caused by thrombosis of the venous and pulmonary artery and aneurysm is in the pulmonary artery. The most common cause of death for those affected is bleeding from the lungs from an aneurysm rupture. The cause is probably an immunologically mediated vasculitis , which is very similar to Behçet's disease . Hughes-Stovin syndrome may be an incomplete expression of Behçet's disease.
The name of the syndrome goes back to the authors of the first description from 1959, the British doctors John Patterson Hughes and Peter George Ingle Stovin .
distribution
The disease is extremely rare: fewer than 40 cases have been described in the English-language specialist literature. The majority of those affected are men; the age of onset of the patients described is between 12 and 48 years. Neither a geographical focus nor a new disease rate can be derived from the case reports . The prevalence is below 1: 1,000,000.
Possible causes
According to the current consensus, the disease is based on vasculitis , which is very similar to Behçet's disease. Some authors have suggested that Hughes-Stovin syndrome could be a variant or incomplete form of Behçet's disease. Nothing is known about the causes.
Introduction: blood supply to the lungs
The pulmonary arteries (lung arteries) and bronchial arteries belong to different parts of the bloodstream .
The oxygen-poor venous blood of the “large” body circulation is pumped from the right heart into the “small” pulmonary circulation. The arteries that carry this blood to the lungs are the pulmonary arteries. They divide into the capillary network of the alveoli , where the blood is enriched with oxygen. From there, the oxygen-rich blood flows through the pulmonary veins to the left half of the heart, which it pumps through the aorta into the large body circulation. Like every organ, the lungs also need a supply of oxygen-rich blood. This is ensured via the bronchial arteries. Larger blood vessels such as the pulmonary arteries also need their own blood supply. Arterioles and venules are therefore found in their vessel walls; these "blood vessels of the blood vessels" are technically called Vasa vasorum . The vasa vasorum of the pulmonary arteries arise from the bronchial arteries.
Angiodysplasia
The first person to describe it, Hughes and Stovin, initially suspected that malformations or degeneration of the bronchial arteries ( angiodysplasia ) are the cause of pulmonary artery aneurysms. They assumed that the angiodysplasia of the bronchial arteries restricted the blood supply to the pulmonary arteries via the vasa vasorum , which led to inflammation and destruction of the tissue and consequently to weakening of the vascular walls. In fact, in some cases, CT angiography has shown changes in the bronchial arteries that fit Hughes' and Stovin's original theory.
Infections
After the Hughes and Stovin publication, other researchers suggested an infectious cause. According to this explanation, the thrombi arise at the site of an infection, from where they are washed as a septic embolus via the veins into the lungs, where they get stuck in a pulmonary artery. Since the thrombus is infected, the inflammation spreads to the wall of the pulmonary artery, weakening the vascular wall and ultimately causing the aneurysm. This explanation is based on the observation that in some cases the aneurysms were preceded by bacterial inflammation: this was an abscess on the scrotum, an inflammation of the epididymis and an inflammation of the ovaries . However, so far neither a pathogen could be detected, nor did antibiotic therapies have an influence on the course of the disease, which means that the assumption of an infectious cause has lost importance.
Behçet's disease
Recent publications see a connection to Behçet's disease : Behçet 's disease is an inflammation of the blood vessels ( vasculitis ), especially of the capillaries and small veins, mediated by T H 1 lymphocytes (a type of T helper cells that activate the innate immune system) . He can show a variety of symptoms, including those that characterize Hughes-Stovin syndrome: aneurysms of the pulmonary and bronchial arteries, and thrombus formation in veins and arteries. Because of this similarity, Hughes-Stovin syndrome has already been described as a variant, manifestation, or incomplete expression of Behçet's disease. In any case, both diseases show further similarities: it mainly affects younger men and the microscopic examination of the aneurysms through the microscope shows a similar picture. Because of their similarity, findings about Behçet's disease are transferred to Hughes-Stovin syndrome.
Pathogenesis
While inflammation with subsequent weakening of the vessel walls is probably responsible for the formation of the aneurysms on the pulmonary arteries, there is disagreement as to why the bronchial arteries can also show bulges. One proposal for this is based on the assumption that if the pulmonary arteries are blocked by anastomoses , the pressure in the bronchial arteries increases, which makes them susceptible to the formation of aneurysms.
Little is known about the nature of the thrombosis in Hughes-Stovin syndrome and Behçet's disease. They typically arise in peripheral veins (e.g. in the legs), where they can loosen and carry the bloodstream into the pulmonary arteries ( pulmonary embolism ). However, it has been shown that in people with HSS or Behçet's disease, the thrombi in the peripheral veins often adhere firmly to the wall of their vein, while the thrombi of the pulmonary arteries arise locally in the inflamed sections of the arteries - which works against the embolism Thesis speaks. The exact mechanism that leads to thrombus formation in Behçet's disease or Hughes-Stovin syndrome is unknown. General thrombophilia is considered unlikely. Local effects due to disturbances or damage to the vascular lining or imbalances in fibrinolysis and platelet activity are discussed .
Clinical appearance, course and prognosis
Thrombosis of the deep veins in the leg often occurs first , followed by involvement of the pulmonary vessels. The symptoms correspond to the local consequences of the thrombosis: reddening, swelling and overheating or thrombophlebitis in the case of peripheral thrombosis, pulmonary hypertension , shortness of breath, chest pain and cough in the case of pulmonary artery thrombosis (analogous to pulmonary embolism ). In addition to these typical sites for thrombosis, other sites of origin have also been observed: in the inferior vena cava , in the heart chambers, in the jugular veins, and in the dural sinus . In some cases, infections preceding the disease have been described, so fever and chills are also possible symptoms. The aneurysms occur on the pulmonary and bronchial arteries. They can occur singly or multiple in one or both lungs .
The cause of death is massive hemoptysis , which occurs when blood leaks into the bronchi. This usually happens when the aneurysms tear or as a result of an infarction of the lung tissue through the occlusion of the pulmonary artery.
diagnosis
Because of its rarity, there are no standardized diagnostic criteria for this disease. At the center of the syndrome are:
- venous thrombosis / thrombophlebitis and
- Bulges (aneurysms) of the pulmonary vessels;
- as a complication , the aneurysms can tear and cause severe bleeding.
The first two findings usually occur one after the other and must be present in order to make a diagnosis of Hughes-Stovin syndrome.
Differential diagnosis
After ruling out all other possible causes of pulmonary aneurysms, Hughes-Stovin syndrome and Behçet's disease remain as differential diagnoses. If the patient shows no other manifestation of Behçet's disease (such as the typical aphthous ulcers in the mouth or genital area), the diagnosis of Hughes-Stovin syndrome can be made. The other causes that have to be ruled out beforehand can be of an infectious nature ( tuberculosis , syphilis and other bacterial and fungal diseases ) or congenital or genetic changes in the structure of vessels and connective tissue (e.g. in the context of Marfan's syndrome ).
therapy
There are no separate therapy recommendations for Hughes-Stovin syndrome. Due to its proximity to Behçet's disease, however, the therapy of HSS can be based on that of Behçet's disease . In most cases, immunosuppressive therapy with glucocorticoids (such as cortisone) or cyclophosphamide was carried out. Non-life-threatening aneurysms can stabilize and regress under this therapy. Aneurysms with a high risk of fatal bleeding can be treated surgically if only one lung or segment of the lung is affected. In such a case, the wing or segment is surgically removed. As a rule, however, the operation is out of the question, as the aneurysms often occur on both sides. In addition, the operation means high morbidity and mortality for the patient. Therefore, endovascular procedures are considered an alternative for most aneurysms. A small catheter is pushed through the vessels to the aneurysm in order to close the aneurysm from the inside with a blood clot. The combination of aneurysms at risk of rupture and thromboses in veins and pulmonary vessels is a therapeutic problem. Because of the thrombosis, anti-coagulation therapy ( anticoagulation ) is actually indicated, which could prevent further pulmonary embolism and progressive thrombosis. At the same time, however, this increases the risk of life-threatening bleeding in the event of an aneurysm rupture, which is why anticoagulation is now considered contraindicated for Hughes-Stovin syndrome .
Web links
- German-language Orphanet entry on Hughes Stovin Syndrome (last accessed on May 23, 2018)
literature
- Wolfram Volkhard Reimold, J. Emmrich, Dietrich Harmjanz, Kurt Kochsiek : Aneurysms of the pulmonary artery as a result of recurrent septic embolism (Hughes-Stovin syndrome) Report on a case. In: Archives for Clinical Medicine. Vol. 215, No. 1, 1968, pp. 1-18. PMID 5756378 .
- Umair Khalid, Taimur Saleem: Hughes-Stovin syndrome. In: Orphanet Journal of Rare Diseases. Vol. 6, 2011, p. 15. doi: 10.1186 / 1750-1172-6-15 . PMID 21489283 . PMC 3082226 (free full text). (Review).
Individual evidence
- ↑ John Patterson Hughes, Peter George Ingle Stovin: Segmental pulmonary artery aneurysms with peripheral venous thrombosis. In: British journal of diseases of the chest. Vol. 53, No. 1, January 1959, pp. 19-27, ISSN 0007-0971 . PMID 13618502 .
- ↑ a b c d e f g h i j Umair Khalid, Taimur Saleem: Hughes-Stovin syndrome. In: Orphanet Journal of Rare Diseases. Vol. 6, 2011, p. 15, ISSN 1750-1172 . doi: 10.1186 / 1750-1172-6-15 . PMID 21489283 . PMC 3082226 (free full text). (Review)
- ↑ Hughes-Stovin Syndrome. In: Orphanet (Rare Disease Database). Entry in German
- ↑ a b c d Athanasios N Chalazonitis, Stefanos B Lachanis, Panagiotis Mitseas, Panagiotis Argyriou, Joannie Tzovara: Hughes-Stovin Syndrome: a case report and review of the literature . In: Cases Journal . tape 2 , January 29, 2009, p. 98 , doi : 10.1186 / 1757-1626-2-98 , PMID 19178695 , PMC 2649053 (free full text).
- ^ S. Herb, M. Hetzel, J. Hetzel, J. Friedrich, J. Weber: An unusual case of Hughes-Stovin syndrome . In: The European Respiratory Journal . tape 11 , no. 5 , May 1998, pp. 1191–1193 , PMID 9648978 ( ersjournals.com [PDF; accessed November 21, 2017]).
