Heiner syndrome is a rare allergic disease of childhood characterized by an abnormal reaction of the body to cow’s milk proteins. Symptoms include damage to the respiratory system (cough, shortness of breath, hemoptysis), underweight in infants and other signs of lag in physical development, dyspeptic disorders. Diagnosis is made by microscopic examination of sputum and feces, laboratory blood tests, elimination and provocative samples. Treatment is based on the exclusion of cow’s milk from the diet, as well as products based on it (including infant formula) and symptomatic therapy.
J84.8 Other specified interstitial lung diseases
Heiner syndrome (allergic primary hemosiderosis of the lungs) is a very rare form of allergic enteropathy provoked by milk proteins – mainly cow’s milk, but cases of similar reactions to goat and even soy dairy products have been described. Pathology occurs in children aged 3 months to 2-3 years, affects boys and girls with the same frequency. Features of the clinical course (bronchitis and bronchopneumonia of unclear genesis, anemia, vomiting and diarrhea) often lead to incorrect diagnosis and subsequent incorrect treatment. It is assumed that a significant part of cases (from a third to a half) remains undiagnosed – the amount of milk in the diet of children decreases with the transition to normal nutrition, the symptoms spontaneously disappear.
The etiology of the disease remains largely unexplored, research is difficult due to the rarity of pathology and a large number of unregistered cases. It is assumed that the main etiological factor is an abnormal immunological reaction to certain types of milk albumins, causing the release of antibodies against them. The effect on the body’s own tissues is explained by cross–reactions – mainly the proteins of the lung vessels are affected, it is assumed that the erythrocyte membranes and intestinal epithelial cells are affected. The influence of genetic factors on the development of Heiner syndrome is discussed, but no clear indications of the hereditary nature of the pathological condition have been revealed.
There is a scientific debate whether the disease is considered a simple variant of enteropathic allergy or a full-fledged autoimmune condition of childhood. Supporters of the allergic version point to the presence of the main provoking factor – cattle milk, with the exception of which the manifestations immediately decrease and practically disappear. On the other hand, the severity and activity of the lesion of one’s own tissues is uncharacteristic for a simple allergy. Insufficient data on the persistence of milk intolerance in old age makes it impossible to accurately prove the validity of one or another point of view. Therefore, studies of the condition are continuing in order to more accurately determine its causes.
Like the etiology, the pathogenesis of Heiner syndrome has been studied very poorly, many of its manifestations are explained by assumptions and theoretical concepts. It is believed that when cow’s milk enters the gastrointestinal tract, its proteins are recognized by the child’s immune system as foreign, highly immunogenic agents. The resulting reaction is accompanied by the release of antibodies against these proteins, causes their binding and subsequent elimination. Since when milk enters the body, it is initially located in the gastrointestinal tract, the first manifestations of pathology affect them – the stool changes, pain occurs, peristalsis disorders. The absorption of other nutrients, in particular, iron–containing substances, is disrupted, which has its effect on the subsequent stages of the pathogenesis of the syndrome.
At a certain stage in the development of pathology, a cross–reaction occurs – antibodies against milk proteins begin to attach to some cells of the lungs and other organs, labeling them as foreign and thereby stimulating cellular and humoral immunological reactions. Infiltration of lung tissue develops with damage to the vessels of the small circulatory circle, which is clinically manifested by symptoms of bronchopneumonia. There is a loss of red blood cells due to their exit from the vessels and absorption by macrophages with the formation of siderophages. This process, combined with insufficient iron intake from the gastrointestinal tract, leads to hypochromic anemia, sometimes taking on a threatening character. In severe cases, hepatosplenomegaly occurs. With the continued intake of milk, a combination of pulmonary, gastrointestinal and hematological disorders causes a slowdown in the physical development of the child.
Manifestations of pathology occur at an early age, starting from the third month of life, their development is preceded by the introduction of whole cow’s milk or mixtures containing it into the child’s diet. Initially, non-specific gastrointestinal disorders can be determined – colic, flatulence, diarrhea, occasionally vomiting. Then signs of lung damage are added – cough, wheezing, shortness of breath. The increase in body temperature observed against this background, hemoptysis creates a picture similar to pneumonia or another form of lung infection, which often leads to erroneous diagnosis and treatment.
Wheezing in the lungs, abdominal pain, diarrhea and other manifestations increase with continued consumption of milk protein-based products. There is no reaction to taking antibiotics and other drugs against pneumonia and gastrointestinal infection. This serves as one of the important diagnostic signs of Heiner syndrome. Some patients have skin manifestations – rash, urticaria, itching. A common symptom is the lesion of ENT organs – nasal congestion, ear pain caused by otitis is recorded. The nature of the stool changes as the pathology progresses – from a simple liquid, it can become bloody, including first thin veins of blood, and then an increasing amount of it.
The loss of hemoglobin due to hemoptysis and excretion of blood with feces is combined with a violation of iron absorption in the gastrointestinal tract, which leads to severe anemia, which has a hypochromic character. This, in turn, provokes an increase in the size of the liver and spleen (hepatosplenomegaly). Oxygen starvation of tissues, especially the brain, which develops due to a violation of the respiratory system and a decrease in the concentration of hemoglobin, leads to a slowdown in the development of the child. With prolonged consumption of milk and its products, this can lead to vegetative disorders, problems with concentration and learning ability.
In the acute period of Heiner syndrome, pulmonary disorders are particularly threatening, which can be complicated by secondary bacterial infection with the development of life-threatening pneumonia with respiratory failure. Anemia, intestinal dysfunction and the associated malabsorption of nutrients, vitamins and trace elements generally reduces the body’s resistance to infectious agents. Infiltration of lung tissues by immunocompetent cells for a long time can lead to its replacement with scar elements (pneumosclerosis). This reduces the capacity of the lungs, makes it difficult for oxygen to enter the body. According to some data, older patients have an increased incidence of bronchial asthma, food allergies, diseases of the ENT organs.
The definition of Heiner syndrome in modern pediatrics is fraught with a number of difficulties. The main role is played by the rarity of pathology, which is why specialists cannot always recognize its presence in a timely manner due to the lack of relevant experience. Problems are also created by the nonspecific nature of the manifestations of the disease, their similarity to infectious lesions of the lungs, digestive system, anemia. These factors lead to incorrect diagnosis, which complicates treatment and increases the risk of complications. Therefore, in the process of determining pathology, attention should be paid to the details of the anamnesis and clinical picture. The diagnostic algorithm has the following form:
- Collection of anamnesis and analysis of symptoms. The combination of pulmonary disorders (wheezing, coughing, sputum with streaks of blood) with diarrhea, vomiting and anemic manifestations should cause suspicion of the presence of this pathology. An additional argument in favor of the disease is the recent transfer of the child to artificial feeding, the inclusion of cow’s milk products in the diet. Frequent colds, otitis media, anemia in the anamnesis also confirm the presence of the syndrome.
- X-ray examinations. Chest X-ray reveals an increase in the severity of the pulmonary pattern, the presence of infiltrates in the form of oblacoid shadows.
- Laboratory tests. In the general blood test, hypochromic microcytic anemia is noted, the severity of which depends on the severity of the patient’s condition. A characteristic feature of Heiner syndrome is eosinophilia, especially increasing after consuming dairy products, leukopenia and a significant increase in ESR are also possible. Immunological examination of the serum reveals the presence of antibodies to milk proteins.
- Microscopic studies. Sputum microscopy confirms a significant number of siderophages – monocytes containing brown grains of hemosiderin. The presence of erythrocytes, a small amount of eosinophils and Charcot-Leiden crystals is also noted. Microscopic examination of feces (coprogram) reveals the presence of eosinophils.
- Immunological tests. If an intolerance to cow’s milk is suspected, an elimination test is prescribed – the exclusion of provoking products from the diet while monitoring clinical indicators. The improvement of the condition is registered already 7-10 days after the cancellation, which indicates in favor of the presence of the disease. In the case of a satisfactory condition of the patient, provocative tests associated with the introduction of an allergen into the body can be used – while the indicators will worsen.
Indirect signs of the syndrome may be the lack of effect in the treatment of pneumonia with antibiotics, deterioration of the patient’s condition in case of non-compliance with a dairy-free diet. Differential diagnosis is performed with bronchopneumonia, gastrointestinal toxicoinfection, hematological disorders. The main distinguishing characteristic of the disease from the above pathologies is the absence of the pathogen during microscopic examination of fecal mucus and sputum.
Treatment of Heiner syndrome
The central link in the treatment of pathology is the exclusion of the intake of cow’s milk proteins into the body – in some cases, only these measures make it possible to achieve a complete recovery of the patient. If older patients (more than 1.5-2 years) it is quite simple to do this, then difficulties may arise during the therapy of infants. It is necessary to cancel feeding with artificial mixtures, which in most cases are made on the basis of cow’s milk, and switch to natural feeding or the use of donor breast milk. The use of analogues (for example, soy milk) is ambiguous, a number of patients with Heiner syndrome have negative reactions when using them. Auxiliary and symptomatic treatment methods include the following measures:
- Reduction of allergic and inflammatory manifestations. Often there is a positive effect from the use of antihistamines – there is an improvement in the functioning of the gastrointestinal tract, infiltrates in the lungs disappear faster. Severe cases may require the use of corticosteroids to reduce the severity of inflammation.
- Improvement of blood parameters. The fight against anemia includes the appointment of iron-containing drugs, the introduction of proteins and vitamins into the diet. When breastfeeding, a similar correction of the mother’s nutrition is necessary.
- Symptomatic therapy. A strong cough can be weakened by inhalation, postural drainage – the appointment of expectorants is contraindicated, as this can increase hemorrhages in the lungs. Treatment of dyspeptic disorders, inflammation of the ENT organs, secondary infections is performed by various groups of drugs according to indications.
Often, as part of the treatment of pathology, correction of side effects from previous therapeutic measures prescribed on the basis of incorrect diagnosis of the syndrome is carried out. Most often, this includes the correction of intestinal microflora disturbed as a result of taking antibiotics used to treat bronchopneumonia. Another frequent consequence of an incorrect approach to therapy is a delay in physical development that occurs with prolonged use of cow’s milk. It is compensated by sanatorium-resort activities, therapeutic gymnastics, classes with a child psychologist.
Prognosis and prevention
Among pediatricians, Heiner syndrome is considered a condition with a relatively favorable prognosis – the simple exclusion of dairy products in itself ensures the success of treatment. A potential threat to the health and life of the child is the probability of an incorrect definition of the disease and, as a result, improper treatment. It threatens the development of side effects (for example, dysbiosis), which further aggravate the patient’s condition, but a greater threat is the further intake of milk proteins into the body and the resulting increase in pathological processes. There is no specific prevention of the disease, in order to reduce the risk of complications, parents are advised to remember when and what products were used when feeding the baby. In the future, this helps to link the development of the symptom complex with certain components of the diet and determine the diagnosis faster.