You’re struggling to diagnose a complex disease. What tools can help you?

- Never give up. - Talk to "N of 1" medical and clinical trial specialists to learn how their diagnoses were made. - Talk to as many specialists (who work in the fields that you have clinical signs in) as your insurance program(s)/capital will allow.? - Consider ex-US diagnostic options if you are an American. - AI and ML can help narrow a diff dx list and are most helpful if you can find a unique constellation of clinical signs (to help identify a digital footprint). - Identify a medically trained advocate to help you navigate medical speak. - Look to groups like the Undiagnosed Disease Network if you are struggling to get a diagnosis.

Be aware of the tendency toward premature closure. If the diagnosis isn't clear, take 5 steps back and start from scratch, considering all options - even ones that you had previously discarded.

Isabel is a DDx companion for physicians (& other HCPs) & is extremely helpful to help construct or broaden a differential diagnosis. I like it particularly because it is so easy to use that it becomes possible to do so right up front at the point of care! All you do is enter the patient’s demographics and presenting clinical symptoms or signs by selecting one of >25,000 autocomplete phrases from a drop-down list, or enter the information as free text. Even complex cases can be processed with unlimited clinical features including lab/imaging results, co-morbidities & other risk factors if you consider them relevant.

As Dr. Lajoi suggests, the key to establishing a diagnosis and effective care plan in support of excellent clinical outcomes lies neither in AI nor algorithms, rather in LISTENING to the patient.

The most common guidance I give residents when they ask for help with an elusive diagnosis is to expand their differential diagnosis. The skill of generating a detailed list of diagnoses that might explain the symptom complex, exam and other diagnostic findings is an important competency for clinicians. Expanding the differential will guide them to consider diagnoses they have not considered and direct the necessary work up. An important step in creating a detailed differential diagnosis is reviewing, in detail, the history of present illness, and conducting a careful exam and review of completed studies. This process will permit the generation of a comprehensive list of differentials from which to work toward a proper diagnosis.

Las herramientas de apoyo son de gran utilidad, sin embargo, pueden llegar a condicionar costos elevados si se realiza la.practica profesional en el medio privado. Tales herramientas se vuelven de acceso inmediato cuando se ejerce en medios institucionales y se pueden llevar a un nivel de uso muy superior cuando el volumen de trabajo ya atención a pacientes es elevado. Es importante contribuir con retroalimentación dichas plataformas para estimular la constante generación de conocimiento.

Clinical Decision Support Systems (CDSS) are integral tools for complex disease diagnosis. UpToDate is a comprehensive resource offering evidence-based medical insights. VisualDx uniquely employs visuals, aiding in recognizing and diagnosing dermatologic and other conditions. Isabel facilitates diagnosis by inputting symptoms, generating a list of potential conditions. These systems provide clinicians with the latest evidence, guidelines, and alerts to errors or diagnostic gaps, enhancing decision-making in healthcare.

No disagreement that evidence-based knowledge pooled as CDSS has been a game changer over the past 2 decades. Up to date for instance, is respected and widely used for the same.

Today's clinicians are blessed with the access to and abundance of knowledge and technology. Updated guidelines, protocols, medical calculators, drug interactions checkers; it would do the clinician great good to use these available resources. Up-to-date is a very good resource but not freely accessible to all. BNF and BUMPS (best use of medicines in pregnancy) are two free useful resources I currently use and have found helpful. Medscape is another free resource I have used in the past. However these are no replacement for a clinicians clinical knowledge and acumen and must be used to merely supplement the process of practising medicine.

Sistemas actualizados, con expansión de guías de prácticas clínicas actualizadas con los diagnósticos, pueden servir de guías en cursos de acción.

MDTs and Grand Rounds involving various specialists across the hospital have been in vogue for several decades and the invaluable sharing of knowledge using these platforms is widely acknowledged in the medical fraternity. These not only facilitate diagnosis of complex diseases but also take away the decision-making burden and treatment-formulation hastle, from the shoulders of any single clinician when a complex and challenging medical case is dealt with. Less anxiety and litigation too...

Collaboration with a colleague can do wonders. A lot of times they can look from the outside in. They can give you a fresh prospective with ideas that you might not have thought of. They also may have more knowledge in the area than you and can talk with you about the steps to get to the disease and the diagnosis.

Collaborating with fellow physicians is a powerful diagnostic tool. Seeking advice from an experienced oncologist for a challenging cancer case, consulting with infectious disease specialists for complex infections, or discussing neurological symptoms with a neurologist all exemplify leveraging collective expertise. Collaborating with primary care providers, hospitalists, and multidisciplinary teams ensures a holistic approach. For instance, a patient with overlapping symptoms of autoimmune and infectious origins may benefit from the combined insights of a rheumatologist and an infectious disease specialist. Such collaborative efforts enhance diagnostic precision by tapping into a pool of diverse medical perspectives and experiences.

In my opinion, discussion with colleagues and specialists is the most effective way forward to managing a difficult clinical condition. Not only in diagnosing a difficult condition but also in its treatment. With these discussions an evolving clinical condition whether improving or deteriorating can also be managed effectively. This practice is being followed by all good clinicians and hospitals striving for good patient care. It is recommended that all Clinicians whenever in doubt should consult colleagues and if required should not hesitate to refer patients timely to another specialist.

I have been practicing along with another provider at an Urgent Care setting and I strongly believe that consulting another provider does help to better diagnose a condition that you may not have encounter or not expert at. Sharing those at a times complex patients only bring to the practice of medicine better outcomes or direction to what to do next!

A reflex?o após um plant?o médico tem sido uma rotina nos meus 25 anos de experiência. Revisar a literatura mais atual sobre os casos atendidos, às vezes ligar para colegas e discutir as dúvidas, sempre lembrando que o principal professor do médico é o paciente. Essa reflex?o n?o é apenas sobre os diagnósticos e tratamentos, mas também de postura. Como me relacionei com a equipe? Deixei meus problemas pessoais de lado?

Continuous learning might involve staying informed about cutting-edge imaging technologies, genetic testing methodologies, or novel biomarkers that could aid in accurate and early disease identification. Moreover, being knowledgeable about the nuances of various diseases and their evolving diagnostic criteria enables healthcare providers to make more informed decisions, potentially leading to earlier intervention or more precise treatment strategies. This fosters the acquisition of new knowledge but also encourages critical thinking and the application of learned concepts in real-world scenarios.

Continuous learning keeps you in the forefront of the field. The more you learn the better you are at what you are doing. Use everything g you can to get that edge. Webinar’s (there are lots of free ones you can find), magazines, meetings, conferences, coworkers, etc. Never stop looking for continuing education opportunities.

Es de vital importancia conseguir la cooperación y confianza del paciente. Ya que en caso de caer en un caso complejo que requiera del apoyo de más médicos, es muy importante que la persona no piense que nuestra capacidad no cubre sus necesidades si no que debe comprender que si situación es compleja y requiere de opiniones complementarias para llegar a una conclusión. La relación médico paciente debe ser la base de una correcta senda de desentramar un diagnóstico complejo.

As health care professionals we have clinical experience and knowledge. But each patient has we meet, has knowledge also. They know how it feels to live with their illness and how it effects their life. Therefore involving them in their care and decision making, ensures them that care they are receiving is focused on them and their values. Enhancing each patients quality of life and meaning.

Realizar un diagnostico solo considerando el orden biologico es actualmente una vision simplificada de la situacion vital de quien llega a la consulta como paciente: el cuerpo habla y no miente. En un contexto evolutivo y desde una perspectiva de un nuevo paradigma de salud integrativa, podemos diagnosticar y tratar las enfermedades desde la "informacion" que podemos interpretar en un plano biologico, mental y emocional. En esos espacios estan las guias o links de respuestas que los profesionales entrenados en una Medicina Integrativa vamos a buscar para ofrecer una guia y tratamiento adecuado, oportuno y asertivo.

Diagnosing diseases relies not only on obtaining accurate history and physical examination, conducting appropriate workup, and meeting diagnostic criteria but also on closely monitoring the progression of the disease over time.

The key to solving a complex case is to keep the process simple. In my experience the Ockhams razor principle and Suttons law would satisfy most situations than the Hickams dictum. I'm also reminded of my teacher who would remind us often; 'if you hear hoof steps outside your doorstep, it's more likely that it's a horse than a Zebra.' This is not to say that complex problems don't truly exist, but rather we must begin by considering the more probable and obvious diagnoses before going into rarer and unlikely possibilities. With a combination of continuous learning, collaborating and reflection throughout our medical career, we will begin seeing wisely and clearly where the less experienced may see only confusion.

A powerful tool that many physicians use is social media crowdsourcing. There are many physician only groups of thousands of members in which variois topics are discussed- including difficult cases. Physician online groups are the new physician lounge for support, collaboration and learning.

Diagnosing a complex disease is like detective work. There are missing clues and missing links that should be detected and clarified to help you reach the answer. Persistence and attention to detail are needed. However, the answer usually lies within someone else' s words and phrases. It could be the patient, a family member, a collegue doctor, a nurse or someone you met and talked to on your way home from work.

Believe your patient. Think critically about what could be causing your patient’s symptoms without assuming your patient is embellishing their symptoms and pain levels. I understand this personally having been misdiagnosed for most of my life when I had symptoms of Endometriosis that were ignored from age 12 to 43.