by Seshata on 31/10/2016 | Medicinal

10 Rare Diseases That Cannabis May Treat

Rare diseases There are thousands of disorders out there that have remained understudied due to their rarity and complexity. Cannabis and cannabinoid compounds may provide complex solutions to these complex diseases. Medicinal cannabis programs are now helping to discover these solutions and deliver them to the patients that desperately need them.


10 Rare Diseases That Cannabis May Treat

Tuberous sclerosis complex

  • A rare genetic disorder that causes benign tumours to grow within the brain, eyes, and other vital organs.
  • Global prevalence of 10-16 in 100,000
  • Usually diagnosed during infancy or childhood.

Tuberous sclerosis complex (TSC) can cause autism, epilepsy, developmental delay, behavioural problems and various other symptoms, although symptoms vary widely between individuals.

In TSC, genetic mutations alter the expression of two proteins, hamartin and tuberin. In healthy individuals, these two proteins work together to control various aspects of cell growth, division and death, and act as tumor growth suppressors. In TSC, the two proteins are inhibited, allowing unchecked cell growth and ultimately the formation of tumours.

The endocannabinoid system is deeply involved in cases of TSC. Research has suggested that children with TSC show abnormally high expression of CB?-receptors during early brain development. It is well-known that the EC system plays a crucial role in processes related to cell division and death. Furthermore, CBD is an important anti-epilepsy drug that can manage seizures in TSC.

Keegan Streetman has used cannabis to battle TSC for several years (© Keegan’s Story)
Keegan Streetman has used cannabis to battle TSC for several years (© Keegan’s Story)

The creators of Charlotte’s Web included a young TSC sufferer, Keegan Streetman in their earliest trials, with good results. Now, GW Pharmaceuticals is undertaking a Phase III clinical trial into the effectiveness of its CBD-based spray Epidiolex for epilepsy caused by TSC.

Mitochondrial disease

  • A group of genetic disorders affecting the mitochondria, the energy-generating “engines” of cells.
  • Global prevalence of around 11-12 in 100,000.
  • Children born with MD usually display symptoms by age 10.

MD causes neurological impairment, seizures, chronic pain, muscle weakness, poor hearing and vision, learning disabilities, multi-organ disease and respiratory disorders.

The symptoms of MD may be related to oxidative stress, a buildup of reactive oxygen species within the cell. Thus, existing (limited) treatments include antioxidants able to penetrate the cell membrane.

Recognition of cannabis’ ability to treat symptoms of MD has come primarily from patient groups. Patients state that cannabis oil notably improves management of seizures, and eases chronic pain. In the US state of Georgia, MD is now on the list of approved conditions for medicinal cannabis patients.

Mitochondrial disease affects multiple different systems (© mitoresearch.org)
Mitochondrial disease affects multiple different systems (© mitoresearch.org)

It is thought that the antioxidant abilities of some cannabinoids may work directly to improve mitochondrial function. Several studies have investigated this relationship, but research is in its infancy. A discussion of existing studies can be found in the paper Cannabinoid receptor agonists are mitochondrial inhibitors (A. Athanasiou et al., 2007).

Behçet’s disease

  • An autoimmune disorder in which the immune system attacks healthy blood vessels, causing inflammation.
  • Rare in North America and Northern Europe (1 in 15,000 to 1 in 500,000)
  • More common in certain regions of Asia and Africa (80-300 in 100,000 in Turkey, the worst-affected country).

Behçet’s disease (BD) can cause skin and genital lesions, joint swelling, chronic pain, swelling in the brain, blood clots, and aneurysms. It is thought that a combination of as-yet-undetermined genetic and environmental factors cause BD. There is no known cure, but anti-inflammatory drugs may provide some relief, and immunosuppressive drugs are also used.

Several cannabinoids including THC and CBD are known for their anti-inflammatory effect, and some US BD patients have reported subjective relief of symptoms when using cannabis. Indeed, the state of Illinois has included BD on its list of approved disorders.

Neuromyelitis Optica (Devic’s syndrome)

  • A rare autoimmune disease that causes recurrent inflammation and demyelination of the optic nerve and spine.
  • Global prevalence of 1-2 in 100,000.
  • Often mistaken for multiple sclerosis (MS), which causes difficulty in establishing prevalence.

Neuromyelitis Optica (NMO) causes ongoing loss of vision and spinal cord function; the latter can lead to muscle weakness, lack of coordination and bowel/bladder control, and loss of sensation.

NMO is very similar to MS, as the latter is also characterised by inflammation and demyelination of nerve tissue. However, a different autoimmune response is involved. NMO can cause much more rapid physical decline, and around 30% of sufferers die within five years of diagnosis. Conversely, the majority of MS sufferers can expect to live a normal or slightly reduced lifespan. As with MS, there is no cure for NMO, but some medications can ease symptoms.

In a 2013 study into neuropathic pain and hypersensitivity resulting from NMO, the endocannabinoids 2-AG and anandamide were both elevated in patients compared to healthy controls. The authors concluded that these endocannabinoids are released in higher levels in NMO sufferers, in order to reduce pain and sensitivity and prevent hyperalgesia.

Myasthenia gravis

  • An autoimmune condition causing progressive weakening of the muscles.
  • Global prevalence of 5-20 in 100,000.

The main signs and symptoms of myasthenia gravis (MG) include drooping eyelids and facial features, difficulty with chewing, swallowing and speaking, and respiratory difficulty. MG is caused by antibodies that block the normal transmission of acetylcholine, the neurotransmitter responsible for coordinating nerve impulses with muscle movement. There is no cure for MG, but some anticholinesterase medications may have some effect.

Acetylcholinesterase is the enzyme that degrades acetylcholine, so inhibiting the former can effectively raise levels of the latter at the neuromuscular junction (where nerve meets muscle). Higher levels of acetylcholine allow more nerve signals to get through, and improve the response of the muscles.

Myasthenia gravis affects the neuromuscular junction (© US National Institute of Health)
Myasthenia gravis affects the neuromuscular junction (© US National Institute of Health)

Various studies have demonstrated THC, CBD and other cannabinoids’ ability to inhibit acetylcholinesterase and reduce the degradation rate of acetylcholine. One US state, Illinois, includes MG on its list of approved conditions, and California-based doctor Allan Frankel has been treating MG patients with a combination of THC, CBD and THC-A, apparently with good results.

Ehlers-Danlos syndrome

  • A group of genetic disorders affecting the skin and the connective tissues of the joints.
  • Global prevalence of around 20 in 100,000.

Ehlers-Danlos syndrome (EDS) can cause hypermobile, unstable joints, hyperelastic skin,  chronic pain, muscle spasms, deformities of the joint and spine, and cardiovascular complications. EDS is caused by mutations in certain key genes, which control the expression of proteins crucial to collagen production.

EDS sufferers have anecdotally reported subjective relief from neuropathic pain and spasms when using cannabis and cannabinoid-based treatments. The compound palmitoylethanolamide (PEA) has also been used to control neuropathic pain in EDS, and is available under the brand name PeaPure in some countries.

Ehlers-Danlos syndrome causes hypermobility of the joints (© Wikipedia.org)
Ehlers-Danlos syndrome causes hypermobility of the joints (© Wikipedia.org)

Although not a classical cannabinoid, PEA is known to have affinity for the GPR55 and GPR119 receptors, which are part of the endocannabinoid system, and is also known to augment the effects of anandamide.

Pemphigus

  • A rare group of autoimmune disorders affecting the skin and the mucous membranes, particularly the mouth.
  • Global prevalence of pemphigus is estimated at 10-50 in 100,000.
  • Certain ethnic groups (particularly Ashkenazi Jews) are more affected than others.

Pemphigus causes itchy, often painful blisters and sores that can spread to cover a large percentage of the body. If untreated, it can cause runaway infections, which can be fatal. The most common treatments include several high-strength steroids including prednisone, which have a range of serious side-effects including intestinal perforations.

Pemphigus is caused by pathogenic antibodies attacking a protein known as epithelial cell adhesion molecule. Without this protein, cells cannot stick together as normal, and the outer layer of the skin and mucous membranes gradually sloughs off.

Cannabis-based treatments have been shown to be effective against several autoimmune disorders affecting the skin, including psoriasis and epidermolysis bullosa. In general, it is the CB?-receptors that mediate the immunological and anti-inflammatory effects of cannabinoids – and these receptors are highly concentrated in the epidermis.

Furthermore, cannabinoid treatments (specifically topical creams and ointments) may also confer important antibacterial, antiviral, and antifungal effects, helping to prevent secondary infection. Several patent applications for cannabis-based topicals for pemphigus have been submitted, and there are several anecdotal reports of patients experiencing relief from symptoms.

Myoclonus diaphragmatic flutter

  • An extremely rare condition causing rapid, involuntary spasms of the diaphragm.
  • Only 50 people worldwide diagnosed thus far.
  • Also known as belly dancer’s syndrome.

Myoclonus diaphragmatic flutter (MDF) causes the diaphragm to contract between 35 and 480 times per minute, causing a spasmodic, rippling effect somewhat reminiscent of a belly dancer. This extremely rare disorder may be caused by nutritional disorders, dysfunction of the central or peripheral nervous systems, pharmaceuticals, or possibly even anxiety.

MDF is not generally thought to be fatal, but causes discomfort and difficulty with breathing and eating. There is no standard pharmaceutical treatment, but symptoms can be instantly relieved by temporarily blocking the phrenic nerve that runs past the lungs to reach the diaphragm.

In one celebrated case, a young man suffering from MDF, Chaz Moore, was reported to have found that medicinal cannabis was the only effective treatment for his symptoms. Due to its extreme rarity, there is little research on the disease. However, cannabinoids with antispasmodic and anticonvulsant effects, such as CBD, are likely to be of most interest.

Familial Mediterranean fever

  • An inherited inflammatory disorder that particularly affects the chest, abdomen and joints.
  • Global prevalence estimated at 10-50 in 100,000; in worst-affected areas prevalence may be as high as 500 in 100,000 (1 in 200).
  • Mostly affects Mediterranean populations, particularly Armenians, Greeks, Italians and Sephardic Jews.

Familial Mediterranean fever (FMF) causes attacks of pain, fever and inflammation in the chest, abdomen and joints, which last several hours and recur intermittently. First attacks occur by the age of 18 in 99% of patients.

FMF is thought to be caused by mutations in genes that control expression of a protein known as pyrin, which is deeply involved in regulating inflammatory processes. Analgesics, NSAIDs and certain other drugs including colchicine may have some effect.

Cannabis was first described as a possible treatment for FMF in 1997. In a double-blind placebo-controlled crossover trial conducted on a single patient with FMF, THC was found to markedly reduce the need for opiate-based painkillers. However, it does appear that there has been any further research since then.

CDKL5 disorder

  • An extremely rare genetic disorder linked to the X-chromosome, causing seizures and developmental delays.
  • 167 cases registered worldwide so far.
  • Primarily associated with girls.

This rare and recently-discovered condition causes severe seizures, developmental delays, scoliosis, microcephaly, poor motor control, limited speech, and various other abnormalities. It is associated with mutations in the CDKL5 gene, which is located on the X-chromosome.

Very little is known about this disorder thus far, and there have been no formal studies into the potential of cannabis as a treatment. However, several families of children with the condition have reportedly seen great improvements after using CBD. In 2014, an 11-month-old girl was reported to have exhibited improvements in muscle control, eye contact, alertness and overall progress after using CBD.

In 2016, 6-year-old Harper Elle Howard tragically lost her battle against CDKL5. At just two weeks old, she began to experience life-threatening seizures that failed to respond to conventional treatments.

Harper Elle Howard tragically lost her life to CDKL5 despite CBD treatments (© hope4harper.com)
Harper Elle Howard tragically lost her life to CDKL5 despite CBD treatments (© hope4harper.com)

Treatment with CBD caused a rapid and dramatic decline in seizures, and allowed Harper to resume near-normal development for several years. However, the battle to maintain normal life ultimately proved too much for Harper – although her story has directly inspired changes in medicinal cannabis legislation in half a dozen countries.

Comment Section

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A. Mathers

I have a rare disease called Adiposis dolorosa, also known as Dercum's disease or Anders disease, is a rare condition characterized by generalized obesity and fatty tumors in the adipose tissue. The tumors are normally painful and found in multiples on the extremities. The understanding of the cause and mechanism of Dercum disease remains unknown.
I have been on so many medications over the years and nothing helps my pain better than cannabis. It also helps with my depression and my anxiety. Some day I hope that it becomes legal in my state. I either suffer or risk going to jail.

31/10/2016

Peg Finley

What about Cystic fibrosis?

02/11/2016

Steve

While not rare, I have Restless Leg Syndrome (RLS) and the only truly effective relief comes from marijuana. I was previously using Miripex, at a dose typically prescribed for Parkinson's patients, but only saw minor relief. After retiring from the military, I tried marijuana and found that it immediately stops the symptoms. If I feel the onset of RLS, I consume marijuana and never experience the urge to move my feet/legs. Now I can get to sleep easily.

06/12/2016

Karen

Very interesting, I have multiple problems and the worst (yes even my cancer didn't bother me as much) is Behçet’s. My dr has said if legal in my state I would be first on his list. Why can't people see this is something many could benefit from!

09/01/2017

Orlando

It also helps relieve pain and delays flare ups for my rare disease called: Hidradenitis Suppurativa, a rare and painful chronic skin disease. It also helps me cope with my anxiety after surgery of removing a benign tumor caused by the disease in a precious area. Nothing helps me better than cannabis!

13/01/2017

Lourdes

What about hunter syndrome?? Do you know something about it??

25/03/2017

Chris

Ever got any feedback on how CBD helps Hunter Syndrome?

15/11/2017

Melody

I have dercums and it helps me tremendously as well as a lot of others with dercums ... (i know from private support group chats) can u check it in adding it to the list

16/05/2017

Terry

Melody, may I ask what dosage and if you use liquid or salve or a combination? I have a good friend with this same rare disease and am trying to get her on a regime.

20/06/2017

sukh

I also suffer from Dercums. Currently searching for a remedy to stop/slow down new lipomas and reduce size of existing ones. Any advice will be greatly appreciated

23/08/2017

Cathy

Achalasia and esophagus spasms.

18/11/2017

Wendie

I have SOJGREN'S SYNDROME I'M TOLD.THERE IS NO.CURE. .SO , I THERE'S NO.CURE WHY pump me full full of medication 14 pills a day 3 chemo medications for antidepressants Marinol because it's the only thing legal in Oklahoma at the time why make me into a cauldron of poison and soup if there's no cure for it I don't understand I don't want to be a guinea pig

18/11/2017

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