Diagnosis Unknown

Common Name(s)

Diagnosis Unknown, No Diagnosis, Not Yet Diagnosed, Undiagnosed Condition

Diagnosis unknown refers to when a person has signs and/or symptoms of a medical or mental health issue, but doctors cannot identify or diagnose the person’s condition or disorder. Without a diagnosis, or the correct diagnosis, it is difficult to get the correct treatment. People may search for years for a diagnosis especially if they have a rare medical or genetic condition. If the condition is rare, sometimes doctors will not know enough about it to diagnose it correctly. Diagnosing can be difficult if there is not a specific test or set of certain symptoms for the condition. Diagnosis can also be hard if the signs and symptoms a person has are general and could be found in number of different conditions. Sometimes a person’s symptoms may not be the typical or usual symptoms for a certain condition but they still have that condition. Sometimes a person may have a condition which has not been identified before. If you are classified as diagnosis unknown by your doctor, it is best to first get a second opinion. Medical advances are happening all the time and with new techniques, such as whole genome sequencing, more people are able to receive a diagnosis. If you or a family member is consistently given an unknown diagnosis, reach out to a support group which specializes in supporting people searching for a diagnosis. Support groups will not only help you in your effort to get a diagnosis but can also be a great emotional support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Diagnosis Unknown" for support, advocacy or research.

In Need Of Diagnosis, Inc.

INOD's mission is to provide help and support for individuals distressed with disorders that have eluded medical diagnosis and to identify and encourage the implementation of protocols that will facilitate quicker and more accurate diagnosis. Provide collective identity. Provide education and voice within healthcare industry. Maintain database of signs, symptoms, demographics, historical enviormental impacts, and effective treatments. Provide Physician referrals.

Last Updated: 27 Dec 2014

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Syndromes Without A Name USA

We are an organization that advocates for children and young adults who have syndromes without a name. We offer support, advice and information on the challenges that families face when there is no diagnosis. We also advocate for changes in the medical community that will benefit undiagnosed individuals.

Last Updated: 27 Dec 2014

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Association of Gastrointestinal Motility Disorders, Inc. (AGMD)

AGMD is a nonprofit international organization which serves as an integral educational resource concerning digestive motility diseases and disorders. It also functions as an important information base for members of the medical and scientific communities. In addition, it provides a forum for patients suffering from digestive motility diseases and disorders as well as their families and members of the medical community.

Last Updated: 28 Feb 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Diagnosis Unknown" for support, advocacy or research.

In Need Of Diagnosis, Inc.

INOD's mission is to provide help and support for individuals distressed with disorders that have eluded medical diagnosis and to identify and encourage the implementation of protocols that will facilitate quicker and more accurate diagnosis. Provide collective identity. Provide education and voice within healthcare industry. Maintain database of signs, symptoms, demographics, historical enviormental impacts, and effective treatments. Provide Physician referrals.

http://www.inod.org

Last Updated: 27 Dec 2014

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Syndromes Without A Name USA

We are an organization that advocates for children and young adults who have syndromes without a name. We offer support, advice and information on the challenges that families face when there is no diagnosis. We also advocate for changes in the medical community that will benefit undiagnosed individuals.

http://www.undiagnosed-usa.org

Last Updated: 27 Dec 2014

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Association of Gastrointestinal Motility Disorders, Inc. (AGMD)

AGMD is a nonprofit international organization which serves as an integral educational resource concerning digestive motility diseases and disorders. It also functions as an important information base for members of the medical and scientific communities. In addition, it provides a forum for patients suffering from digestive motility diseases and disorders as well as their families and members of the medical community.

http://www.agmd-gimotility.org

Last Updated: 28 Feb 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Diagnosis Unknown" returned 41 free, full-text research articles on human participants. First 3 results:

Correct Diagnosis of Wild-Type Transthyretin-Related Amyloidosis Followed by the Introduction of a Novel Therapy in a Patient With Cardiac Wall Thickening of Unknown Cause.
 

Author(s): Naoko Sawada, Atsuko Nakayama, Masao Takahashi, Mariko Tanaka, Hiroyuki Morita, Hiroshi Akazawa, Issei Komuro

Journal: Int Heart J. 2017 Feb;58(1):147-150.

 

We report here the case of a 67-year-old man who was initially diagnosed with myocardial hypertrophy with progressive hypertensive heart disease. After 6 years a cardiac biopsy was conducted because of changes in the electrocardiogram and transthoracic echocardiogram results, revealing ...

Last Updated: 23 Jan 2017

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Utility of T-Cell Interferon-γ Release Assays for Etiological Diagnosis of Classic Fever of Unknown Origin in a High Tuberculosis Endemic Area--a pilot prospective cohort.
 

Author(s): Xiaochun Shi, Lifan Zhang, Yueqiu Zhang, Baotong Zhou, Xiaoqing Liu

Journal:

 

Tuberculosis (TB), especially extrapulmonary TB is still the leading cause of fever of unknown origin (FUO) in China. However, diagnosis of TB still remains a challenge. The aim of this study was to evaluate the diagnostic value of T-SPOT.TB for etiological diagnosis of classic FUO ...

Last Updated: 20 Jan 2016

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A multiplexed marker-based algorithm for diagnosis of carcinoma of unknown primary using circulating tumor cells.
 

Author(s): Elizabeth M Matthew, Lanlan Zhou, Zhaohai Yang, David T Dicker, Sheldon L Holder, Bora Lim, Ramdane Harouaka, Si-Yang Zheng, Joseph J Drabick, Nicholas E Lamparella, Cristina I Truica, Wafik S El-Deiry

Journal: Oncotarget. 2016 Jan;7(4):3662-76.

 

Real-time, single-cell multiplex immunophenotyping of circulating tumor cells (CTCs) is hypothesized to inform diagnosis of tissue of origin in patients with carcinoma of unknown primary (CUP). In 20 to 50% of CUP patients, the primary site remains unidentified, presenting a challenge ...

Last Updated: 12 Mar 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Diagnosis Unknown" returned 6 free, full-text review articles on human participants. First 3 results:

Diagnosis and management of isolated pituitary metastasis from adenocarcinoma of unknown origin presenting as loss of libido.
 

Author(s): Julien Feghaly, George Astras

Journal:

 

Pituitary gland metastasis from primary tumours is uncommon on its own. Rarely, some of these primary tumours may be of unknown origin. This metastasis to the pituitary gland could manifest as diabetes insipidus, cranial nerve palsies, headaches, fatigue and other symptoms. In rare ...

Last Updated: 1 Apr 2015

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Cancer of unknown primary site: improved patient management with molecular and immunohistochemical diagnosis.
 

Author(s): F Anthony Greco

Journal: Am Soc Clin Oncol Educ Book. 2013 ;():175-81.

 

Cancer of unknown primary site (CUP) is a common heterogeneous clinicopathologic syndrome, but investigations and publications regarding these patients are rare. For the last 20 years, empiric "broad-spectrum" chemotherapy has been the standard therapy for the majority of these patients. ...

Last Updated: 11 Dec 2013

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Diagnosis and management of neck metastases from an unknown primary.
 

Author(s): L Calabrese, B A Jereczek-Fossa, J Jassem, A Rocca, R Bruschini, R Orecchia, F Chiesa

Journal: Acta Otorhinolaryngol Ital. 2005 Feb;25(1):2-12.

 

Neck lymph node metastases from occult primary constitute about 5%-10% of all patients with carcinoma of unknown primary site. Metastases in the upper and middle neck (levels I-II-III-V) are generally attributed to head and neck cancers, whereas the lower neck (level IV) involvement ...

Last Updated: 5 Aug 2005

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Evaluation of Diagnosis of Fever and Biologic Inflammatory Syndrome of Unknown Origin
 

Status: Recruiting

Condition Summary: Fever of Unknown Origin

 

Last Updated: 12 Jan 2017

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Last Updated: 22 Aug 2015

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Clinical Research for the Diagnosis of Tick-borne Diseases in Patients With Unexplained Acute Fever
 

Status: Recruiting

Condition Summary: Fever of Unknown Origin; Tick-borne Diseases

 

Last Updated: 23 Jul 2016

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