Sarcoidosis Research & Education Blog

Sarcoidosis has often been referred to as the 'snowflake' disease, by myself and others, because patients may have so many different symptoms and most have multiple organ involvement which may include the lungs, eyes, spinal cord, liver, lymph, brain, heart, spleen, CNS and/or others.

While snowflakes are also complex and variable with no two being alike, that is where the analogy ends. Sarcoidosis is nothing like a beautiful snowflake. At its best Sarcoidosis patients do well with little or no treatment and about half the time it goes away on its own. At its worst the first symptom may be sudden death.

New imaging techniques (e.g. advanced cMRI and PET) show prevalence and mortality may be much higher than previously thought. There is still no marker specific to Sarcoidosis leaving diagnosis to be statistical likelihood based on a process of elimination, frequently requiring biopsy of the involved organ. For those with chronic Sarcoidosis treatment is limited to quality of life improvements as no cause or cure is yet known.

The University of Minnesota, recognized as a WASOG (World Association for Sarcoidosis and Other Granulomatous Diseases) Sarcoidosis Clinic is doing important research to identify a Sarcoidosis marker(s) to aid the diagnosis, treatment, prognosis and perhaps even a cure.

Your support of this research is needed for patients and their families in the fight against this disease.

                               Mrs. Mortimer...........not Mortimer Snerd                                                                                                         

In 1898 Sir Jonathan Hutchinson used the term 'Mortimers Malady' for the skin disease he described as 'lupus vulgarism multiplex non-ulcerans et non-serpiginous' that had afflicted Mrs. Mortimer, a 65 year old Londoner. Today this is referred to as Lupus Pernio and is one of the many manifestations of Sarcoidosis.

Nearly 120 years later Sarcoidosis remains one of the least understood and most misdiagnosed diseases. It can affect every organ in the body. Most Sarcoidosis sufferers have multiple organ involvement. Despite medical technology advances no definitive marker(s) has been discovered specific to Sarcoidosis to aid diagnosis. Diagnosis remains a process of elimination via seemingly endless testing, including invasive testing (e.g. biopsy). Even then diagnosis cannot be accomplished with complete confidence. The end result is a statistical likelihood of the disease. There is no known cure.

The University of Minnesota’s research is targeted on the critical need to develop biomarkers that would classify Sarcoidosis based on the biological process that are associated with long-term therapy or advanced disease. This will result in providing precision medicine in Sarcoidosis thus limiting treatment-related side effects resulting in improved quality of life and outcomes.

The University of Minnesota is doing important research to identify Sarcoidosis markers to aid the diagnosis, treatment, prognosis and perhaps even a cure. Your support of this research is needed for patients and their families in the fight against this disease.

Sarcoidosis manifestations can be from head (hair loss - Alopecia) to toe ("sausage toes" - Dactylitis).

A list (partial) of conditions that may result from Sarcoidosis is overwhelming: 

Addison's Disease, Alopecia, Amenorrhea, Anemia, Anxiety, Arthritis, Atrial Fibrillation, Bradycardia, Budd-Chiari, Bundle Branch Block, Cardiac Arrhythmia, Cataracts, Chest Pain, Cholestasis, Chronic Cough, Cirrhosis, Cognitive Dysfunction, Congestive Heart Failure, Cor Pulmonale, Dactylitis, Dementia, Depression, Diabetes Insipidus, Diastolic Dysfunction, Dilated Cardiomyopathy, Dysautonomia, Dyspnea, Enthesitis, Erectile Dysfunction, Erythema Nodosum, Fatigue, Glaucoma, Hearing Loss, Heart Block, Heerford-Waldensum Syndrome, Hepatitis, Hepatomegaly, Hoarseness, Hydrocephalus, Hydrocephalus, Hypercalcaemia, Hypercalciuria, Hyperventilation, Hypocortisolism, Hypothyroidism, Incontinence, Infertility, Kidney Stones, Lightheadedness, Lofgren Syndrome, Lupus Pernio, Lymphadenopathy, Lymphopenia, Meningitis, Monocytosis, Myelopathy, Myocarditis, Nephritis, Nephrocalcinosis, Orofacial Granulomatosis, Pancreatitis, Papilledema, Pericarditis, Peripheral Neuropathy, Portal Hypertension, Postural Orthostatic Tachycardia Syndrome, Psychosis, Pulmonary fibrosis, Pulmonary Hypertension, Restrictive Cardiomyopathy, Seizures, Small Fiber Neuropathy, Splenomegaly, Tenosynovitis, Tinnitus, Transient Ischemic Attacks, Uveitis, Vasculitis, Ventricular Arrhythmias, Vertigo and more……

Just think about the impact increased Sarcoidosis research could have…

The University of Minnesota is doing important research to identify Sarcoidosis markers to aid the diagnosis, treatment, prognosis and perhaps even a cure. Your support of this research is needed for patients and their families in the fight against this disease.

Sarcoidosis is often referred to as the 'snowflake' disease because patients may have so many different symptoms. Diagnosis is challenging and can be made even more difficult by intermittent inflammation in multiple organs. Nearly half of the Sarcoid Research and Education Foundation survey respondents indicated diagnosis took over 5 years. The respondents had an average of almost 3 organs involved. This included sufferers of Sarcoid of many types affecting the lungs, eyes, spinal cord, liver, lymph, brain, spleen, and other organs.  

As there is no marker specific to Sarcoidosis diagnosis remains a statistical likelihood based on a process of elimination frequently requiring biopsy of the involved organ. The diagnosis challenge is illustrated by one survey respondent who had been misdiagnosed as having MS for many years but has now been diagnosed as having neurosarcoidosis.

The University of Minnesota is doing important research to identify a Sarcoidosis marker(s) to aid the diagnosis, treatment, prognosis and perhaps even a cure.  Your support of this research  is needed for patients and their families in this fight against this disease. 

The National Institute of Health website lists over 230 categories of medical research spending totaling over $900B over the last 8 years, Sarcoidosis does not even make the list. A detailed look shows Sarcoidosis to be included within some of the categories representing a total of$7M dollars over the same time period, less than 0.001% for a disease which can affect 1 in 50 over their lifetime. I am not sure how to get Sarcoidosis on the list but it needs to be done. Being on the list with -$0- spending might be embarrassing but sometimes that is what it takes.

Sarcoidosis may be unknown but it is not rare.  Sarcoidosis is not a new disease but new diagnostic techniques and technologies (such as CT scans) have enabled improved detection. More than 1 in 10,000 people get the illness (annually) and while uncommon it can be fatal.  Recent studies suggest that the overall lifetime risk of getting Sarcoidosis could be as high as 2% or more. These studies also confirm African-Americans (especially African-American women) are three or four times more susceptible to the disease, which could put their lifetime risk over 5%.  These disease rates are clearly outside the range of being ‘rare’.

The limited awareness of Sarcoidosis has had major consequences leading to significant shortfalls in medical research funding. Definitive diagnostic tests and determination of cause remain elusive. Current medications may provide relief but most have the risk of significant side effects. There is no known cure.

Ways to increase awareness are being sought, if you have any suggestions please let me know.

Amyl Ahola, Founder

http://www.sarcresearch.com