A warm welcome to all…
A place to gather for information and support for Mast Cell Disorders, Ehlers-Danlos Syndome or Dysautonomia… or if you’re like me, all three.
I will very briefly explain each one but my blog posts will address them in more detail.
Mast Cell Disorders
The two major forms of mast cell disorders are mastocytosis and mast cell activation syndrome (MCAS). Mastocystosis is further separated into cutaneous mastocytosis (CM) and systemic mastocytosis (SM). **Update 9/20/16… After attending the TMS (The Mastocystosis Society) conference in Orlando), there will be more types of mast cell disorders added.
Cutaneous mastocytosis includes urticaria pigmentosa (UP), telangiectasia macularis eruptiva perstans (TMEP), diffuse cutaneous mastocytosis (DCM) and solitary mastocytoma. Most pediatric cases fall into one of these categories and the skin lesions can be diagnosed by skin biopsies.
Systemic mastocytosis is an accumulation of abnormal mast cells. Standard diagnosis is typically a bone marrow biopsy. Under systemic mastocytosis, there are several variants that won’t be described here but are described on the Mastocytosis Society website.
Mast cell activation syndrome (MCAS) is a normal number of mast cells that activate and release mediators causing the same symptoms of SM. Diagnosis can be difficult because bone marrow biopsies do not show bone marrow involvement and the blood test, tryptase, often is not elevated as in SM. The 24 hour urine tests are more sensitive: n-methylhistamine, prostaglandin-D2 or it’s metabolite, 11B-prostaglandin-F 2a.
Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders characterized by joint hypermobility, skin extensibility and tissue fragility. There are 6 major types and they are characterized according to their symptoms.
Because EDS is a genetic disorder, you are born with it but may not manifest the symptoms until later. Pain is a prevalent symptom.
Interestingly, EDS Hypermobile type has found to often exist with MCAS and/or Dysautonomia. More detail on the different types of EDS can be found on the EDNF website.
Dysautonomia is a generalized term for dysfunction of the autonomic nervous system that is part of the peripheral nervous system that controls functions not within our conscious control such as:
- heart rate
- pupillary dilation
- blood flow to your brain and other organs
There are different forms of dysautonomia: postural orthostatic tachycardia syndrome (POTS), neurocardiogenic syncope and orthostatic hypotension.
POTS is characterized by an increase in heart rate of 30 beats per minute or over 120 bpm within the first 10 minutes of standing.
Neurocardiogenic syncope is a triggering of a neural reflex causing systemic hypotension with both bradycardia and peripheral vasodilation.
Orthostatic hypotension is an exaggerated drop in blood pressure upon standing, causing lightheadedness or fainting. Orthostatic intolerance is the inability to tolerate normal standing due to symptoms such as headache, palpitations, lightheadedness and chest pain.
The link between EDS and Dysautonomia… stretchy EDS veins cause pooling of blood in the extremities that decreases blood flow back up. Also, muscles required to pump the blood back to the right heart may be compromised.
For more detailed information on dysautonomia, see the dysautonomia information network website.
Again, this is a very brief overview. Each one of these is very complex. I encourage questions on my blog posts. So welcome again.