Although many diseases may be considered to involve metabolism and the nervous system, we use the term "neurometabolic disease" to refer to one of a few specific groupings of symptoms and biochemical abnormalities. Other names used to refer to similar groupings - or to subgroups of them - include myalgic encephalopathy/chrnoic fatigue syndrome (ME/CFS), postural orthostatic tachycardia syndrome (POTS), dysautonomic disease, small fiber neuropathy, fibromyalgia, Ehler's-Danlos' syndrome (EDS), chronic Lyme disease, chronic borreliosis, soldier's heart, and many more. Not everyone with these diagnoses have neurometabolic disease, but currently so few of them have been tested for it that it is hard to estimate how many that do.
Already in antiquity it was well known that certain infectious diseases occasionally give rise to diffuse symptomatology long after any signs of infection are gone. While our understanding of human physiology has improved dramatically since then, we at Red Clinic believe that science has yet to identify how particular viruses in susceptible individuals can give rise to such symptoms. We refer to these symptoms as neurometabolic because we think that they result from abnormal function of the nervous system and aberrant cellular metabolism. However regardless of what term is used, it is a fact that far too many patients with such symptoms continue to be met with disbelief by the medical profession and as a consequence receive little help. We want to change that!
Part of the explanation for most physicians' lack of familiarity with neurometabolic disease (under any name) may be the unusually large variation in incidence over time. Presumably this is the result of variations in the infection rates of the causative viruses - which will wax and wane according to population immunity. Another important reason is likely to be the lack of easily detectable patterns in the symptoms, which rather tend to vary in character, intensity and locality apparently at random. In contrast to what is seen in many other chronic diseases, new symptoms also often replace old ones so that the clinical picture can change dramatically over time. Finally, routine laboratory tests and radiology are usually normal and any deviations are nonspecific.
We at Red Clinic are today able to perform laboratory testing of blood to make a definite diagnosis of what we consider neurometabolic disease. Among those so diagnosed, 2/3 are women, most are below age 30 when they first fall ill and the majority have one or more close relatives with coeliac disease, insulin-dependent diabetes or autoimmune thyroiditis. Over 75% are able to report a specific infectious trigger, often a throat-, lung- or intestinal infection. It is also possible to list common symptoms, which we have attempted below.
As illustrated above, power generation in our cells take place in the mitochondria and is the most efficient when employing oxidative metabolism (38 ATP units generated per glucose molecule). However, in neurometabolic disease (NMS) one or more cells loose this ability and are forced to rely exclusively on anaerobic glycolysis, generating a measly 2 ATP units per glucose molecule. The same thing happens when we perform short bursts of exercise that do not give the muscle time to increase blood (and hence oxygen) supply. In both NMS and anaerobic exercise an excess of lactate is generated as a byproduct - but with exercise this is rapidly metabolized for energy by the liver and energy stores replenished. In NMS, the anaerobic condition is permanent, as are the high blood lactate levels.
For unknown reasons that appear unrelated to lactate accumulation, even light mental or physical exertion often leads to a delayed but persisting fatigue. Characteristic is a feeling of total exhaustion with or without nausea that appears 12 to 24 hours after even a mild effort and lasts for one or more whole days during which normal activities are impossible and other symptoms worsen.
While little discussed, NMS patients very often experience an inability to filter out sights or sounds leading them to be overwhelmed by even slight stimulations. Sometime, such hypersensitivity is accompanied by a loss of taste (primarily for sour or bitter tastes) or smell - but the latter symptoms are often seen on their own.
Comprising a particular form of pain (often termed fibromyalgia) that is characterized by soreness of tendons and muscles that worsens with pressure at certain trigger points (red dots in the image to the right). The pain is unrelated to previous physical activity and is often worse in the morning or accompanied by morning stiffness.
Also common are several different types of headaches - often all at once (eg. new-onset migraine alternating with a burning sensation in the scalp or a painful tingling along one jaw).
A common early symptom is the periodic swelling of feet and legs alternating with increased urine volume and sudden attacks of very rapid heart rate (above 110 bpm at rest, especially on standing up) that may be accompanied by nausea and fainting. In contrast to "panic attacks" (a diagnosis often given to these patients) the sudden increase in heart rate is not connected to preceding anxiety or mental stress, however these can be a natural consequence of the experience. Examination reveals no heart problems and an ECG is normal besides the rapid pulse.
Usually a late symptom, the gradual weakening of connective tissues ("pseudo-EDS") can give rise to problems including pelvic or craniocervical instability, ligament rupture with or without luxation of joints and lens dislocation of the eyes. An early sign is skin that becomes unusually soft and elastic while loosing pigmentation, sensitizing it to sunburn.
Most patients report some type of worsening of mental faculties, for example slow thinking, impaired short-term memory or problems recalling memories. The net result is often noticed first and includes difficulty in reading a longer text or following the plot of a television series. Another common neurological symptom is the development of a disturbed circadia rythm, including a pathological sleep pattern (insomnia or unrefreshing but very long sleep). In more advanced cases, auditory hallucinations, tinnitus or a decreased acuity of hearing or sight may appear.
Some patients experience dry mucus membranes (for example of the eyes and mouth) and a significant minority fulfill diagnostic criteria for Sjogren's disease. It is also common to experience periodic tightening of the chest, spasmic pains in the heart region, respiratory distress at high altitude or when flying and occasional problems breathing while lying flat on the back.
A poorly functioning intestine is common in NMS and can result in both diarrhea and constipation. Patients also often experience new-onset food intolerance and postprandial gasiness. Food uptake can be impaired leading to deficiencies while some also develop problems tolerating certain foods (eg. gluten, white sugar, alcohol).
Most women with a neurometabolic disease experience a prolonged menstrual period and also suffer from strong pre-menstrual symptoms. Male patients may get low testosterone levels resulting in decreased libido. The release of insulin, antidiuretic hormone and adrenaline can also become erratic, leading to sudden attacks of low blood glucose, physical stress or increased thirst. An increased urine volume (often over 3 liters per 24 hours) regardless of fluid intake, frequent nightly voiding and a preference for carbonated or salt rich fluid are also likely to be linked to hormonal disturbances.
An NMS patient has a very high risk of adverse drug reactions and may react also to low doses of common drugs. Some substances are especially problematic, including dihydroergotamine (prescriped against migraine), levitaceram (epilepsy) and injection anesthetics (such as used for short duration surgery). Especially these last also often have a significantly shortened duration of action which can cause early wakening from anaesthesia. A similarly unexpectedly short duration of action is also often seen when using local anaesthetics such as lidocaine or immunomodulators such as rituximab.