Ceelen-Gellerstedt syndrome is a lung disorder believed to be one of the autoimmune diseases that causes episodic or chronic hemorrhages in lung tissue. Fibrosis often develops from the hemorrhages. Causal treatments are not yet available for this rare disease.
What is Ceelen-Gellerstedt syndrome?
Ceelen-Gellerstedt syndrome is a rare lung disease that appears as hemorrhage in the alveolar structural elements of the lungs. The disease is also called idiopathic pulmonary hemosiderosis and manifests by the third decade of life. Women and men are affected about equally. Because the disease has not been particularly well studied due to its rarity, neither the causes have been conclusively clarified, nor do causal therapies exist. The bleeding is usually diffuse. The disease is often confused with vasculitis or collagenosis, as both conditions produce a similar general appearance. Ceelen-Gellerstedt syndrome is usually episodic and relapsing in adults. Thus, the symptoms do not necessarily persist throughout, but subside and return after a considerable period of time. In children, more chronic courses have been observed.
Causes
The causes of Ceelen-Gellerstedt syndrome have not yet been conclusively determined. Because a familial accumulation has been observed, medical science has so far assumed a genetic disposition that, together with infections or other environmental influences, probably leads to the onset of the disease. Inhalation trauma from insecticides and infection with certain viruses are often associated as environmental factors with the onset of the disease. A connection with celiac disease is also within the realm of possibility. In particular, children with the disease often additionally suffer from cow’s milk intolerance, which is an interesting observation, especially in combination with celiac disease. In this rare disease, the origin is unclear. Presumably, the bleeding in the lungs is caused by autoimmune processes against the body’s own tissue.
Symptoms, complaints, and signs
Ceelen-Gellerstedt syndrome manifests during acute episodes as restrictive ventilatory dysfunction, usually in combination with respiratory global insufficiency in the setting of paradoxically elevated carbon monoxide transfer factor. Symptoms such as a chronic nonproductive cough occur. Patients are also often affected by dyspnea, which occurs predominantly with exercise. In addition, affected individuals are easily fatigued and their skin is noticeably pale. Only in rare cases do patients cough up blood. Nevertheless, the disease always damages blood vessels in the alveoli of the lungs, triggering recurrent hemorrhages into the lung tissue, the extent of which varies from case to case. Since the blood breakdown product hemosiderin is deposited in the lung tissue because of the hemorrhages, the lungs are irreversibly damaged with each hemorrhage. More and more connective tissue is produced in the lungs in response to the damage. Pulmonary fibrosis is the ultimate consequence of these processes.
Diagnosis and progression
After history taking, clinical examinations form the diagnostic basis for Ceelen-Gellerstedt syndrome. In acute episodes of the disease, the physician hears a rattle toward the end of inspiration during auscultation. On pulmonary function testing, restrictive ventilatory dysfunction can be observed in acute episodes. The chest is x-rayed to confirm the diagnosis and shows diffuse compaction in the lung parenchyma and pulmonary cilia in acute stages. Reticular drawing is increased. Often, a blood test reveals iron deficiency anemia. Scientific authors disagree about the prognosis. While some speak of a rather favorable prognosis and expect death rarely as a consequence of the disease, others give an unfavorable prognosis, assuming a death rate of about ten percent especially for children and thus the chronic form of the disease,
Complications
Ceelen-Gellerstedt syndrome causes respiratory disturbances in most cases. Most patients suffer from acute respiratory distress and a very severe cough. Due to the respiratory disorders, the daily life of the affected person is very much affected. It is no longer possible to engage in sports or perform certain physical activities. The affected person is thus restricted in his or her activities.Shortness of breath can lead to panic attacks and further loss of consciousness in many people. Ceelen-Gellerstedt syndrome causes the patient to become tired very easily and also suffers from headaches and nausea. In this case, the fatigue cannot be compensated by sleep. In severe cases, the lungs can also be damaged by the bleeding. The damage itself is irreversible and cannot be reversed by medical treatment. No specific treatment is available for Ceelen-Gellerstedt syndrome. Most often, medications are administered during the acute phases of the syndrome to relieve symptoms. In the case of intolerances or allergies, the affected person must follow a specific diet and is restricted in his or her food intake. Although the treatment itself does not lead to complications, it cannot achieve a complete cure. In the worst case, a lung transplant must be performed to keep the patient alive. Various complications may occur, as little research has been done on this procedure.
When should you go to the doctor?
If coughing and shortness of breath occur primarily during physical exertion, a physician should be consulted promptly. If these symptoms recur and are not due to any other cause, there may be a serious underlying condition such as Ceelen-Gellerstedt syndrome. A medical diagnosis can clarify whether it is actually the lung disease – then, if necessary, the necessary therapy can be initiated directly. Should further symptoms become noticeable or signs of pulmonary fibrosis appear, it is best to contact the emergency medical service. People suffering from celiac disease are particularly affected. Inhalation trauma from insecticides, infection with certain viruses, and other environmental factors can also promote the development of Ceelen-Gellerstedt syndrome. Those who are affected by these factors should talk to their general practitioner if they have the above-mentioned symptoms. In addition to the general practitioner, a lung specialist or an internist may also be consulted. In a medical emergency, the ambulance service should be called or the affected person should be taken to a clinic.
Treatment and therapy
Causative treatments do not yet exist for Ceelen-Gellerstedt syndrome. Therefore, therapy is symptomatic and, if necessary, supportive, with the main focus of supportive measures being an improvement in the quality of life of affected individuals and their relatives. Drug treatments are mainly used in acute phases of the disease. Treatment with steroids in particular can alleviate the symptoms in acute phases. The same applies to cyclophosphamides. However, the success of drug therapies observed to date is limited and has by no means been proven for every case of Ceelen-Gellerstedt syndrome. Severe courses also require the administration of immunosuppressants such as azathioprine outside of acute phases. If gluten intolerance is present, a gluten-free diet is also initiated. In the case of lactose intolerance, the diet must also be lactose-free. In rare cases, complete remission of all symptoms has been observed as a consequence of such a diet. If pulmonary fibrosis has already developed, long-term oxygen therapy must often be given. Once terminal respiratory insufficiency is present in the lungs, the last treatment option is transplantation of the lungs. The extent to which this option is crowned with success is difficult to assess due to the minimal research available. However, since the disease will attack even a transplanted lung again, the chance of a transplant alone must be considered rather low because of the little long-term success that can be expected.
Prospect and prognosis
Ceelen-Gellerstedt syndrome cannot be treated causally, so patients must rely on symptomatic treatment in any case. This can usually limit and reduce symptoms well, although in many cases lifelong therapy is necessary. Ceelen-Gellerstedt syndrome can often be defeated by an adapted diet if there is an intolerance to gluten. The same is usually true for lactose intolerance, in which case the diet is adjusted as well. In addition to these options, however, most patients are also dependent on therapy with oxygen.If the symptoms do not subside as a result, Ceelen-Gellerstedt syndrome can only be treated by transplanting a lung. Without treatment, the life expectancy will eventually be significantly reduced and the affected person will continue to die. Even with a lung transplant, the symptoms may recur. However, the probability of finding a donor organ is very low. The prognosis for Ceelen-Gellerstedt syndrome is therefore considered to be relatively poor, depending also on the success of drug treatment and the exact manifestation of the syndrome. In general, treatment is aimed at improving the quality of life, since a complete cure is not possible anyway.
Prevention
The causes of Ceelen-Gellerstedt syndrome are unclear to date. Therefore, the disease can hardly be prevented so far. If inhalation trauma or viral infections are indeed present as triggering factors, vaccinations and cautious handling of insecticides and other toxic substances can be understood as preventive measures in the broadest sense.
Here’s what you can do yourself
Ceelen-Gellerstedt syndrome is a very rare lung disease whose causes have not yet been conclusively determined. Presumably, the bleeding in the lungs is triggered by autoimmune processes directed against the body’s own tissue. Since the causes of the disease are not known, the affected person cannot take any measures to combat them causally. Also, many of the symptoms cannot be influenced by self-help measures, or only insignificantly. However, a connection between the disease and certain food intolerances, especially celiac disease, as well as lactose intolerance is suspected. Affected persons suffering from such disorders can alleviate them by a suitable diet and thus very likely also positively influence the course of Ceelen-Gellerstedt syndrome. In the case of gluten intolerance, the gluten protein must be consistently avoided. Gluten is contained in particularly high concentrations in many types of grain, especially wheat, durum wheat semolina, barley, spelt, oats, rye, green spelt, but also in primal grain, kamut or emmer. Corn, rice, buckwheat and millet, on the other hand, are among the cereals that do not contain gluten. Amaranth is also free of this substance. Since more and more people prefer a gluten-free diet, even without medical necessity, there is now a wide range of pasta, bread and baked goods available in specialty food stores and health food stores that are also suitable for people with celiac disease. People who suffer from lactose intolerance should familiarize themselves with vegan alternatives to dairy products. Here, too, the range is now very broad and of high quality. In addition, lactose-free dairy products are also available.
