The Ai|Life SMART MEDICAL REPORT is a revolutionary innovation capable of estimating the risk of 14 disease groups from a single blood test result using artificial intelligence. Beyond the data found in a traditional blood test report, the SMART MEDICAL REPORT provides insights into possible causes of abnormal values and potential diseases, along with estimated probabilities.How? The *artificial intelligence behind the SMART MEDICAL REPORT analyzes the risk of individual diseases by comparing patterns in your data with hundreds of millions of data points from hundreds of thousands of other patients.*The SMART MEDICAL REPORT utilizes machine learning based on large-scale health data. It aligns with the European Union's strategy outlined in COM(2018) 795, adopted in Brussels on 7 December 2018, specifically section 2.5 and its second paragraph, which identifies this as a type of artificial intelligence.This approach can uncover diseases that have not yet caused symptoms and may not be apparent from deviations in standard reference values. The SMART MEDICAL REPORT can guide healthcare providers by highlighting conditions that might otherwise only be diagnosed years later or remain undetected. Through regular screenings, these conditions can potentially be identified at an early stage, providing patients with better prospects for effective treatment and recovery.
Ai|Life SMART MEDICAL REPORT is a bioinformatics project involving experts with advanced knowledge in healthcare, IT, and mathematics. It contributes to and benefits from numerous academic research collaborations: these partnerships help improve the model, which becomes increasingly accurate as it is enriched with real patient data. This progress also opens the door for expanding to additional disease groups.
The software functions in three main steps:
The software does not make decisions by following a specialist’s line of reasoning, but rather by searching for patterns and performing comparisons to estimate risk. This means it can potentially detect diseases that would not be suspected based solely on deviations from reference values. However, at this stage, the system takes into account only your current blood test results—it does not consider your medical history, other diagnostic results, or lifestyle and environmental factors, all of which are essential for an accurate diagnosis.
We are working to ensure that in the future, these additional data sources will also be integrated into the disease risk analysis.
We recommend that you always discuss the results of the SMART MEDICAL REPORT report with your general practitioner or specialist.You can book an online consultation with a SYNLAB medical expert after your laboratory test via the following link:
https://synlab.hu/vizsgalat-utani-szakertoi-konzultacio/
The SMART MEDICAL REPORT is capable of estimating the risk of the following 14 disease groups. Currently, the diagnostic risk assessment of the SMART MEDICAL REPORT is primarily optimized for chronic and often difficult-to-diagnose disease groups and conditions. However, it is also capable of estimating the presence of acute, rapidly progressing conditions (e.g., acute liver diseases).The SMART MEDICAL REPORT assesses the risk of cancer only when analyzing the cancer disease group, which is available in the SMART MEDICAL REPORT "Premium" risk assessment package. This feature is not included in other packages. The premium package can be ordered at this link: https://synlab.hu/okoslelet-premium-kockazatbecslo-csomag/
SMART MEDICAL REPORT is available at SYNLAB Hungary blood collection locations in the following package options:
Laborvizsgálatok | Típus | BASIC | PREMIUM | EXTRA |
Fehérvérsejt szám (WBC) | Vérkép | |||
Vörösvértest szám (RBC) | Vérkép | |||
Hemoglobin (Hgb) | Vérkép | |||
Hematokrit (Hct) | Vérkép | |||
MCV | Vérkép | |||
MCH | Vérkép | |||
MCHC | Vérkép | |||
Thrombocitaszám (PLT) | Vérkép | |||
Red Cell Distribution Width% (RDW) | Vérkép | |||
Mean Platelet Volume (MPV) | Vérkép | |||
Neutrofil granulocita (%) | Vérkép | |||
Limfocita (%) | Vérkép | |||
Monocita (%) | Vérkép | |||
Eozinofil granulocita (%) | Vérkép | |||
Bazofil granulocita (%) | Vérkép | |||
Neutrofil granulocita (#) | Vérkép | |||
Limfocita (#) | Vérkép | |||
Monocita (#) | Vérkép | |||
Eozinofil granulocita (#) | Vérkép | |||
Bazofil granulocita (#) | Vérkép | |||
Alanin-aminotranszferáz (GPT / ALT) | Enzim | |||
Albumin | Fehérje anyagcsere | |||
Alkalikus foszfatáz (ALP) | Enzim | |||
Aszpartát-aminotranszferáz (GOT / AST) | Enzim | |||
Gamma-glutamiltranszferáz (GGT) | Enzim | |||
Glükóz (vércukor) | Szénhidrát anyagcsere | |||
LDL-koleszterin | Vérzsír | |||
Húgysav | Anyagcsere bomlástermék | |||
Kálcium | Ion | |||
Kálium (K) | Ion | |||
Koleszterin | Vérzsír | |||
Kreatinin + eGFR | Veseműködés | |||
Nátrium (Na) | Ion | |||
Totál bilirubin | Fehérje anyagcsere | |||
Direkt bilirubin | Anyagcsere bomlástermék | |||
Transzferrin | Vasanyagcsere | |||
Transzferrin szaturáció | Vasanyagcsere | |||
Triglicerid | Vérzsír | |||
sTSH | Hormon | |||
Vas | Vasanyagcsere | |||
Urea (Karbamid) | Veseműködés | |||
Totál protein | Fehérje anyagcsere | |||
C-rekatív protein | Gyulladást jelző vizsgálat | |||
Amiláz | Enzim | |||
Ferritin | Vasanyagcsere | |||
Fibrinogén | Fehérje anyagcsere | |||
Foszfát | Ion | |||
Kreatininkináz (CK) | Enzim | |||
HDL-koleszterin | Vérzsír | |||
Lipáz | Enzim | |||
Klorid | Ion | |||
Pszeudokolineszteráz (CHE) | Enzim | |||
LDH | Enzim | |||
Magnézium | Ion | |||
Vérsüllyedés | Gyulladást jelző vizsgálat | |||
Fruktózamin | Szénhidrát anyagcsere | |||
Reticulocita (%) | Vérkép | |||
Reticulocita (#) | Vérkép | |||
Daganatos és ritka betegségek becslései | ||||
Számítógéppel generált egyedi OKOSLELET |
Our latest package, the Ai|Life SMR THYROID BASIC, has been specifically developed to detect and analyze the risk of thyroid disorders.Thyroid diseases are becoming increasingly common in Hungary, often developing gradually and initially causing only mild symptoms.This makes the THYROID Ai|Life SMR an excellent choice, as it can potentially identify various thyroid conditions even before symptoms appear:
SMART MEDICAL REPORT is available at SYNLAB Hungary blood collection locations in the following package options:
Laborvizsgálatok | Típus | BASIC | EXTRA | PRÉMIUM |
Fehérvérsejt szám (WBC) | Vérkép | |||
Vörösvértest szám (RBC) | Vérkép | |||
Hemoglobin (Hgb) | Vérkép | |||
Hematokrit (Hct) | Vérkép | |||
MCV | Vérkép | |||
MCH | Vérkép | |||
MCHC | Vérkép | |||
Thrombocitaszám (PLT) | Vérkép | |||
Red Cell Distribution Width% (RDW) | Vérkép | |||
Mean Platelet Volume (MPV) | Vérkép | |||
Neutrofil granulocita (%) | Vérkép | |||
Limfocita (%) | Vérkép | |||
Monocita (%) | Vérkép | |||
Eozinofil granulocita (%) | Vérkép | |||
Bazofil granulocita (%) | Vérkép | |||
Neutrofil granulocita (#) | Vérkép | |||
Limfocita (#) | Vérkép | |||
Monocita (#) | Vérkép | |||
Eozinofil granulocita (#) | Vérkép | |||
Bazofil granulocita (#) | Vérkép | |||
Kálcium (tCa) | Vérkép | |||
TSH szuperszenzitiv (sTSH) | Hormon | |||
Szabad T3 (fT3) | Hormon | |||
Szabad T4 (fT4) | Hormon | |||
Foszfát | Ion | |||
Glükóz (éhgyomri) | Szénhidrát anyagcsere | |||
Urea (Karbamid) | Veseműködés | |||
Kreatinin (Crea) | Veseműködés | |||
eGFR-EPI | Veseműködés | |||
Húgysav | Anyagcsere bomlástermék | |||
Nátrium | Ion | |||
Kálium | Ion | |||
Klorid | Ion | |||
Magnézium | Ion | |||
Totál protein | Fehérje anyagcsere | |||
Albumin | Fehérje anyagcsere | |||
C-reaktív protein | Gyulladást jelző vizsgálat | |||
Vas | Vasanyagcsere | |||
Transzferrin (Trf) | Vasanyagcsere | |||
Transzferrin szaturáció | Vasanyagcsere | |||
Koleszterin | Vérzsír | |||
Triglicerid (Tg) | Vérzsír | |||
HDL-koleszterin (HDL-C) | Vérzsír | |||
LDL-koleszterin (LDL-C) | Vérzsír | |||
Totál bilirubin (tBil) | Anyagcsere bomlástermék | |||
GOT / AST | Enzim | |||
GPT / ALT | Enzim | |||
GGT (Gamma GT) | Enzim | |||
Alkalikus foszfatáz (AP, ALP) | Enzim | |||
LDH | Enzim | |||
Kreatin-kináz (CK) | Enzim | |||
Tireoid stimuláló Immunglobulin (TSI) | Autoantitest | |||
anti-TPO (ATPO) | Autoantitest | |||
Tireoid Receptor Antitest (TRAK) | Autoantitest | |||
Ferritin | Vasanyagcsere | |||
Tireoglobulin elleni antitest (ATG) | Autoantitest | |||
Tireoglobulin (TG) | Prekurzor fehérje | |||
D-vitamin (kalcidiol, 25OH-D) | Vitamin | |||
Számítógéppel generált egyedi OKOSLELET |
When you choose a package that includes SMART MEDICAL REPORT, you will receive two reports after your blood test: first, the traditional laboratory report, and within 3 working days, the SMR, which contains a risk analysis summary generated by artificial intelligence. The SMART MEDICAL REPORT will be sent to the email address you provided, in PDF format, and for the protection of your personal data, it will be password-protected. As a final step, you will also have the opportunity to complete a satisfaction survey, thereby contributing to the ongoing development of the SMART MEDICAL REPORT project.
We recommend that in the days following your blood draw, you check the spam folder of your email account, as the email containing the SMART MEDICAL REPORT may be classified there due to the unknown sender. You can find further assistance regarding opening the SMART MEDICAL REPORT among the Frequently Asked Questions. If you have chosen the “Premium” risk assessment package, you are also entitled to a free specialist consultation in the event that a risk for a rare or malignant disease is detected. We will connect you with our appointed specialist, who will help you interpret your results during an online consultation and compare them with your personal medical history and symptoms, and will recommend further steps based on this. The price of the package includes the possible specialist consultation. In this case, our colleagues will contact you before sending the SMART MEDICAL REPORT. The package price also includes that every generated report is reviewed and validated by a specialist.
The Ai|Life OKOSLELET consists of five parts, which are as follows: general and personal data, a summary of conventional laboratory test results, evaluation supported by artificial intelligence*, explanation of high-risk disease groups, and explanation of values deviating from the reference range.The SMART MEDICAL REPORT is a machine learning approach based on large healthcare data sets, which-according to point 2.5 and the second paragraph of the COM(2018) 795 strategy adopted in Brussels by the European Union on December 7, 2018-can be considered a type of artificial intelligence.
This section contains your personal data, the key data of the laboratory test serving as the basis for the SMART MEDICAL REPORT, as well as, for quality assurance purposes, the SMART MEDICAL REPORT identifier and the version number of the software used.
Here you will find all laboratory tests, grouped, that are used by SMART MEDICAL REPORT to estimate your disease risks. These tests are transferred from your ordered laboratory test package into SMART MEDICAL REPORT and primarily serve quality assurance purposes, as well as ensuring that all information related to your tests is available in one place. In this section, you can view your completed laboratory tests and easily notice if a test result is above (marked in red) or below (marked in blue) the reference range. From left to right, the columns mean: name of the test, test classification type, test value, test unit of measurement, lower value of the test’s reference range, upper value of the test’s reference range, and the position of the test value relative to the reference range (A - below, F - above, N - normal).
The main section of SMART MEDICAL REPORT shows, based on the evaluation of artificial intelligence, which of the 14 disease groups your laboratory results may indicate the presence of, or the potential risk of developing
The 14 Disease Groups for Which SMART MEDICAL REPORT Provides Risk Assessments
Estimated Probability
The estimated probability of the presence of a disease group. This value indicates the percentage of patients with similar laboratory results to yours – included in statistical analyses – who were found to have at least one condition from the examined disease group. The probability is calculated by mathematical models and depends on: the reliability of the models used, disease prevalence, the number of tests performed, the color category (1–5) assigned to the disease’s presence.
Presence of Disease
A color-coded scale from 1 to 5 (green → yellow → red), where increasing values indicate a higher risk of the disease group being present.
Important Note: The mathematical models exclusively base their decisions on your current laboratory results. They do not account for your medical history, physical status, other diagnostic test results, or lifestyle/environmental factors-all of which are essential for establishing an accurate diagnosis. A blood test is a critical but not exclusive component of diagnosis. Never forget this. Therefore, always consult your treating physician or specialist to determine how relevant the SMART MEDICAL REPORT results are for your specific case.
1 and 2 (green–yellow-green):These basically indicate a negative result. If your estimated disease risk falls into these categories, the probability of the presence of the disease group is unlikely (1) or less likely (2) in your case.3 (yellow):Your result falls into the uncertain range; the presence of the disease is possible, but the mathematical models cannot estimate it more precisely or rule it out.4 and 5 (orange–red):These basically indicate a positive result. If your estimated disease risk falls into these categories, the probability of the presence of the disease group is rather likely (4) or likely (5) in your case. The exact probabilities corresponding to each category can be found in the Probability column.
Important Note: The mathematical models exclusively base their decisions on your current laboratory results. They do not account for your medical history, physical status, other diagnostic test results, or lifestyle/environmental factors-all of which are essential for establishing an accurate diagnosis. A blood test is a critical but not exclusive component of diagnosis. Never forget this. Therefore, always consult your treating physician or specialist to determine how relevant the SMART MEDICAL REPORT results are for your specific case.
VALUES DEVIATING FROM THE REFERENCE RANGE
Deviations from the reference range show you which test results differ from the values established for a healthy reference population. They indicate the direction (above or below) and magnitude of the deviation. For each deviation, you can learn which clinical conditions these deviations might suggest, based on decades of laboratory medicine literature. What other test values typically deviate in these conditions.
Frame: Red or blue, depending on whether the tested value deviates above (red) or below (blue) the reference range.
Test name: The name of the test that deviates from the reference range. Description of the test: A brief introduction to the test that deviates from the reference range (what it measures, why its value is important). Most common reasons for elevated (or decreased) values: According to clinical laboratory literature, which diseases or conditions are most commonly associated with the direction of the deviation from the reference range.
Other relevant laboratory tests considering the patient history, clinical presentation, and other test results: Shows which other tests tend to deviate in the same direction and which additional tests may help to better understand the underlying causes.
It is important to emphasize that artificial intelligence does not use clinical chemistry literature and does not make decisions based on deviations from the reference ranges. The AI’s decision is based on similarity patterns between your laboratory results and those of tens or hundreds of thousands of patients in each group. While there is often overlap between the two approaches (a result without deviations usually yields a negative outcome, and multiple deviations often correspond to a positive result in line with clinical literature), this is not surprising, since laboratory medicine literature also relies on decades of accumulated knowledge and statistics. Nevertheless, it is not uncommon for the summary based on deviations from reference ranges and the findings of artificial intelligence to differ. In all cases, only your specialist is authorized and responsible for establishing an accurate diagnosis, taking into account (or disregarding) the provided information.
Like all diagnostic tests, the information provided by SMART MEDICAL REPORT also has its limitations. In certain cases, the mathematical models may identify existing health risks in completely healthy individuals (biostatistical literature refers to this as a false positive) and categorize them as patients, while in other cases, they may consider actual patients to be healthy (this is referred to as a false negative). Often, there is a significant trade-off between these two cases: the more a test aims to identify all patients (i.e., reduce false negatives), the more likely it is that some healthy individuals will be categorized as “patients”. Based on this, determining accuracy is not a simple task, as accuracy largely depends on how we interpret the patterns calculated by the mathematical methods (at what level of similarity someone is considered “ill,” and at what level “healthy”). In biostatistics, diagnostic accuracy is therefore often expressed using the ROC-AUC (receiver operating characteristic – area under curve) curve. The value of this metric is 0.5 in the case of random categorization (the best example is “flipping a coin”) and 1.0 in the case of perfect categorization (where the model never makes a mistake). The average combined AUC value of the models used by SMART MEDICAL REPORT is 0.93. This is a high value and indicates very high average accuracy.
The accuracy of SMART MEDICAL REPORT is further demonstrated by the pilot testing conducted jointly with SYNLAB Hungary between May and September 2021. During this evaluation, internists and laboratory specialists assessed SMART MEDICAL REPORT’s findings against blood test results. Experienced specialists agreed with SMART MEDICAL REPORT’s conclusions in 95% of cases based on the analysis of 785 lab reports. These results reflect the extensive work and testing behind the SMART MEDICAL REPORT project, aimed at providing you with the most accurate results possible. However, this does not mean SMART MEDICAL REPORT is error-free. In most models (though not all), SMART MEDICAL REPORT prioritizes reducing false negatives (i.e., minimizing the risk that a disease remains undetected if the report classifies a patient as healthy). This approach unintentionally increases false positives (i.e., healthy individuals may receive a positive diagnosis). This trade-off aligns with standard diagnostic testing practices and means: You may receive a positive risk assessment for diseases you do not have. If your report indicates a positive result for any condition, consult your treating physician or GP immediately to confirm or rule out the diagnosis.
By ordering SMART MEDICAL REPORT, you acknowledge and accept the potential physical (for example, but not limited to, the physical risks of additional confirmatory examinations) and psychological (for example, but not limited to, anxiety and stress about the possibility of having a health problem) risks involved. It is important to emphasize that while SMART MEDICAL REPORT makes every effort to provide the most accurate results possible-including specialist validation of some reports before delivery-it is not an officially certified medical product and as such, can in no way replace or override the opinion and/or diagnosis of a specialist physician. The information provided in SMART MEDICAL REPORT serves solely as information for your specialist, who may consider, accept, or disregard its content at their own discretion. SMART MEDICAL REPORT is purely a computer-generated interpretation, for which (and specifically, but not exclusively, for any possible inaccuracies) neither the issuer, DiagnostIQ Kft., nor any partners involved in the SMART MEDICAL REPORT service assume any responsibility.It is also important to note that the accuracy of risk classifications increases proportionally with the number of laboratory tests included, and at least a “large routine” laboratory panel or an equivalent package is required for meaningful interpretation of SMART MEDICAL REPORT. If you use a laboratory package containing fewer tests, SMART MEDICAL REPORT is not reliable at all (for more information about the laboratory packages available with the SMART MEDICAL REPORT service, see:
Where is Ai|Life SMART MEDICAL REPORT available?
SMART MDEICAL REPORT is a large-scale project with the goal of enabling the early diagnosis of all chronic diseases in the near future using just a routine blood test, so that patients no longer have to wait months to receive the right diagnosis. Early diagnosis creates significant opportunities for starting appropriate treatments in time, which increases the chances of recovery and generally improves quality of life.If you would like to support the development of the SMART MDEICAL REPORT project, please take 5–10 minutes after receiving your report to complete a general questionnaire about your medical history and lifestyle. Your answers can greatly assist future improvements and may help create an even more accurate and reliable service in the future.
Thyroid diseases include a wide variety of disorders affecting the thyroid gland, including congenital (familial) defects, iodine deficiency conditions, hypo and hyperthyroidism, thyrotoxicosis, thyroiditis and other thyroid disorders. In case of involvement, consultation with an endocrinologist and further specific thyroid testing is recommended
The main appearance of diabetes includes insulin-dependent and non-insulin-dependent manifestations, acquired nutritional (e.g. malnutrition) and genetic origins. As diabetes is one of the most complex chronic diseases, a complex specialist investigation (internal medicine, diabetology) is required to accurately identify the causes and associated diseases.
Acute and chronic diseases of the liver including fibrosis, inflammation, shrinkage, toxic, hereditary, infectious and other causes, excluding cancer. In case of involvement, a visit to an internist or a gastroenterologist/hepatologist, a detailed specialist examination and a panel test with specific liver parameters are recommended.
Any non-infectious inflammation of the colon and small intestine, such as Crohn's disease, ulcerative colitis, coeliac disease (celiac disease) or an absorption disorder associated with food intolerance. In the case of susceptibility, detailed panel tests (e.g. screening for celiac disease), food allergy tests and consultation with a specialist in internal medicine, gastroenterology or proctology may be recommended to rule out these diseases in a targeted way.
This group includes all vitamin, mineral, metal and trace element-related nutritional deficiencies and anaemia but also includes protein deficiency disorders. The algorithm estimates the presence of anaemia from the blood count and considers all unilateral or inadequate blood count abnormalities associated with nutritional deficiencies as affected. In the case of involvement, it is recommended to consult an internist, haematologist, or dietician and to perform a detailed vitamin/nutrient panel to rule out the disease or to identify the exact cause.
All anaemia of non-nutritional origin (or not directly related to nutrition), including anaemia caused by enzyme defects, inherited or acquired haematological disorders other than cancer (e.g. thalassaemia, sickle cell disorders, haemolytic anaemia, aplastic and other anaemia pathologies). In case of involvement, consultation with a specialist in internal medicine or haematology and a specific and detailed blood panel to rule out the disease or to identify the exact cause is recommended.
Immunodeficiencies include hereditary and acquired partial, mixed and complex immune deficiencies, some autoimmune diseases (e.g. sarcoidosis) and other non-cancer (auto)immune diseases. In case of involvement, a detailed immune panel is recommended and consultation with a specialist immunologist to exclude and identify the causes.
Systemic autoimmune diseases that affect the whole body or several physiological functions, such as various forms of rheumatoid arthritis, complex connective tissue systemic diseases (SLE, systemic sclerosis or other connective tissue systemic involvement - e.g. Sjögren's syndrome) or systemic myopathies. Most of these are difficult to diagnose, and in case of suspicion of involvement (if suggested by previous complaints or medical history) it is recommended to consult an immunologist / internist / endocrinologist and to perform specific tests to confirm/reject the suspicion.
Abnormalities in lipid metabolism, which may be either a consequence of other chronic diseases or a precursor to other more serious conditions. This includes hereditary and acquired hyperlipidaemias. If affected, it may be worthwhile to have a detailed lipoprotein profile and consult a lipidologist (internist) and investigate the underlying causes.
These include diseases of the bile (e.g. gallstones/ gallbladder inflammation) and (acute) inflammatory and other gastrointestinal diseases of the pancreas. In case of involvement, it is recommended to consult an internist (gastroenterologist) and possibly undergo further (specific) panel testing
Inflammatory and other diseases of the kidney, including inflammation of the glomerular, tubular and interstitial tissues, and any other disease associated with renal dysfunction and/or loss of function, including both acute and chronic severe renal failure. In case of suspicion, a detailed renal profile and consultation with a nephrologist (internist) is recommended.
Pathologies that adversely affect the functioning of the circulatory system, which can be serious in themselves or are often precursors to serious/life-threatening functional disorders. These include ischaemic heart disease (disturbances in the blood supply to the heart), valvular heart disease (aortic and myocardial disease), cerebrovascular disease (cerebrovascular disease), atherosclerosis and thrombotic conditions. In case of involvement, it is recommended to consult an internist/cardiologist and, if necessary, to undergo further (imaging) diagnostic tests.
Chronic malignant diseases, which include the major neoplasms of the haematopoietic system (leukaemias and lymphomas), the most common adenocarcinomas (gastrointestinal cancers, breast cancer, prostate cancer), the most common squamous cell tumours (gynaecological tumours, respiratory tract tumours), as well as mixed and specialised tumours (e.g. melanomas) and endocrine gland tumours (e.g. thyroid), excluding tumours of primary nervous system origin. Importantly, the majority of cancers are not diagnosed by blood sampling (except for tumours of the haematopoietic system), so in many cases mathematical models only estimate risk by looking for secondary patterns and the quantified results are much less reliable than for other disease groups. If your result shows any risk, your medical history will always be reviewed by a qualified oncologist/haematologist/ internist (who will also contact you if necessary to learn more about your health and medical history) and decide whether further investigations are necessary.
Rare conditions affecting less than one in 2,000 people (most of them less than one in ten thousand). Special mathematical algorithms search for abnormalities in laboratory findings that affect a negligible percentage of (mainly adult) patients and may be the result of hidden, difficult-to-detect pathological lesions. The algorithms are able to estimate the risk of rare metabolic diseases (e.g. familial hypercholesterolaemia, familial chilomicronaemia syndrome, Gaucher or Wilson's disease, haemochromatosis), rare haematological disorders (e.g. porphyria, haemophilia, cryoglobulinemia), rare autoimmune diseases (e.g. Behcet's disease, Still's disease), rare diseases affecting the endocrine glands (e.g. Cushing's syndrome) and certain mitochondrial diseases (e.g. carnitine deficiency syndromes). If you are found to be affected, you still have a very low risk of the disease, but the increase in risk can be very high (for example, even if you have a 100-fold increase in risk, your chances of being affected are less than 1 in 100 in 1 in 15,000 people, but this increase in risk is significant enough for a specialist to treat your case). Therefore, if you are at risk of any rare disease, your medical history will be reviewed by a rare disease specialist in internal medicine/haematology/immunology, if necessary by face-to-face or telephone consultation and by asking about your medical history and any symptoms.
Thyroid inflammation, or thyroiditis, can develop for various reasons and may present in different forms. Inflammation can temporarily or permanently alter thyroid function, leading to either hypothyroidism (underactive thyroid) or hyperthyroidism (overactive thyroid). There are several types of thyroiditis, with Hashimoto's thyroiditis being the most common. This condition affects up to 10% of the population and occurs 8–10 times more frequently in women than in men. Hashimoto's thyroiditis is an autoimmune thyroid disorder in which the immune system mistakenly attacks the thyroid gland, eventually causing inflammation and hypothyroidism over time.
Thyrotoxicosis, a severe form of hyperthyroidism, is a condition in which the thyroid gland produces excessive amounts of thyroid hormones. The overproduction of hormones accelerates the body's metabolism, leading to a variety of symptoms. Thyrotoxicosis can also cause thyroid gland enlargement, though this is not a specific symptom, as hypothyroid conditions can also result in thyroid enlargement. If untreated, the condition can lead to a thyrotoxic crisis, a severe and potentially life-threatening state. A common cause of thyrotoxicosis is Graves' disease, an autoimmune disorder associated with thyroid overactivity that most frequently affects women.
Iodine deficiency-related thyroid disorders are dysfunctions of the thyroid gland that result from insufficient iodine intake. Iodine is an essential trace element required for the production of thyroid hormones. When the body does not receive enough iodine, the thyroid gland cannot produce adequate hormone levels, leading to various diseases and the development of iodine deficiency disorders. The most common symptom of iodine deficiency is the formation of a goiter.
The most common symptom of iodine deficiency is goiter (struma), that is, the enlargement of the thyroid gland as a compensation for decreased hormone production. This causes a visible swelling at the front of the neck. In cases of severe iodine deficiency, the thyroid gland is unable to produce enough thyroid hormone, leading to symptoms of hypothyroidism: weight gain, fatigue, constipation, dry skin, depression, and muscle pain. Severe iodine deficiency can also result in cognitive, mental, and developmental disorders.
Thyroid tumors are pathological abnormalities that originate from abnormal cell proliferation in the thyroid gland. These can be benign (benign tumors) or malignant (malignant tumors). Among malignant tumors, the most common is papillary thyroid carcinoma, which typically grows slowly and responds well to treatment, especially when detected at an early stage.
Thyroid tumors are often asymptomatic in the early stages, but most typically (and with increasing likelihood as time goes on) they produce the following symptoms: a lump or swelling in the neck (which is often painless), difficulty swallowing or breathing (if the growing tumor presses on the trachea), hoarseness, and pain in the neck or throat without an apparent cause. These symptoms can also be caused by other head and neck tumors.
Hashimoto's thyroiditis is a chronic thyroid inflammation in which the body mistakenly attacks the thyroid gland, resulting in inflammation and deterioration of thyroid function, leading to a decrease in hormone production. The disease develops over a long period of time, may initially involve an enlarged thyroid gland, called a goitre, and may be partially/fully asymptomatic for up to years. The course of the disease is multi-stage, initially causing hyperthyroidism or normal thyroid function for a long period of time (euthyroidism), but over time ends in hypothyroidism due to a decrease in thyroid function. Hashimoto's thyroiditis is a common disease and the most common clinical cause of hypothyroidism, affecting mainly women. Its prevalence increases with age.
Graves' disease (also known as Graves-Basedow disease) is the most common disease involving an overactive thyroid gland (hyperthyroidism). It mostly affects women and most often occurs between the ages of 20 and 40. It is an autoimmune disease in which the body produces thyroid-stimulating autoantibodies that cause the thyroid gland to produce more hormones. The result is hyperthyroidism, in severe cases thyrotoxicosis.
Acute and sub-acute thyroiditis are relatively rare conditions that cause inflammatory thyroid disease and may even cause permanent thyroid dysfunction. Acute/infectious diseases are typically caused by bacterial infection, develop rapidly, and may be associated with high fever, chills and, in severe cases, abscess formation. Sub-acute thyroiditis (De Quervain's thyroiditis) is often triggered by a viral infection and symptoms develop gradually. It also presents with neck pain, fever and fatigue. Sub-acute inflammation is usually initially associated with hyperthyroidism, but may later develop into hypothyroidism and normal thyroid function.
Riedel's thyroiditis is an extremely rare chronic thyroid inflammation in which the thyroid tissue undergoes fibrotic transformation ("scarring"), becoming palpably hard touching. The disease is difficult to diagnose in its early stages, with no symptoms of hyperthyroidism or hypothyroidism, but as the disease progresses, symptoms associated with hypothyroidism become more prominent.