We focus on the support of patients with the following rare diseases

Hereditary angioedema

Hereditary angioedema (HAE) is a rare disorder with reoccurring local fluid retention and consequent swelling of the skin and mucous membranes. Typical symptoms are swollen lips, hands or feet, difficulties swallowing or breathing, vomiting, diarrhea and colic type intestinal cramps. Attacks appear suddenly and last hours or days, they can be very painful and in some cases even life-threatening.

The underlying cause is a genetic defect resulting in a deficiency of functional plasma protein C1 inhibitor (C1-INH). This increases the permeability of blood vessel walls with water accumulating in the surrounding tissue. First swelling attacks almost always occur before 30 years of age, however, most commonly babies and toddlers are already affected.

There are a lot of known factors that can induce an acute attack, including small injuries, infections, hormonal fluctuations (ovulation, pregnancy, menopause), emotional stress, weather changes and some foods.


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Hypophosphatasia

Hypophosphatasia is a very rare disease with insufficient mineralization of the bone, bone deformities and fractures. Incidence is estimated at approximately 1/100, 000 worldwide.

Cause for the disease is a hereditary genetic defect which results in a lack of the enzyme tissue non-specific alkaline phosphatase (TNSAP). This enzyme is responsible for the breakdown of pyrophosphate to free phosphate. Together with calcium, phosphate is needed for the mineralization and building of strong bones by osteoblasts.

Depending on the severity of the disease symptoms occur sooner or later in life. Affected infants show deformed skulls and chests and have difficulties breathing. Children suffer from skeleton deformations, premature loss of milk teeth, dwarfism and a waddling gate. Bone fractures of all kinds are frequent and are being misdiagnosed as osteoporosis, especially when they first occur at an adult age.

Excess pyrophosphate and calcium form microcrystals and their precipitation in muscles, joints and other tissues induces an autoimmune reaction and inflammation. In this case hypophosphatasia is often mistaken for rheumatism or osteoarthritis.

Other symptoms are muscle weakness, early fatigue, teeth problems and loss of appetite.


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Short bowel syndrome

If after an accident or an operation a large part of the bowel needs to be removed, the capacity of the gastrointestinal tract to absorb essential nutrients from food is diminished. The short bowel syndrome (SBS) is a condition where the shortening of the small intestine limits the nutrient resorption to an extent where appropriate hydration and nutrient supply of the body cannot be sustained through normal nutrition. The severity of subsequent malnutrition is dependent on the remaining functionally active intestinal sections. In rare cases the short bowel syndrome can also be hereditary.

If SBS is incorrectly treated or left untreated, malnutrition of the body will lead to severe dehydration and a vitamin and mineral deficit with loss of muscle mass, delayed wound healing, depression, diarrhea, premature ageing and poor general wellbeing.

Due to the loss of gastrointestinal function, SBS patients must be fed via bypassing the gastro-intestinal tract and application of parenteral nutrient infusions. However, this life-saving measure can cause severe complications in some cases.


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Lysosomal acid lipase deficiency

Lysosomal acid lipase deficiency (LAL-D) belongs to the group of lysosomal storage diseases and is an ultra-rare disease with a prevalence of 1-9 patients per 100,000. It is caused by a genetic mutation which leads to the lack of the enzyme lysosomal acid lipase (LAL).

Impaired activity or complete loss of active LAL result in an accumulation of excess cholesterol esters and triglycerides in the liver, blood vessel walls and other tissues.

The first appearance of symptoms and course of the disease differ between patients. In newborns LAL-D causes vomiting, diarrhea, swollen abdomen, enlarged liver and growth delay and can be fatal after a short time (Wolman disease). However, LAL-D can stay symptom-free for many years. The first symptoms such as elevated liver enzymes are unspecific and the correct diagnosis often comes delayed. If LAL-D clinically manifests during childhood or in adults, about 50% of patients will develop a fibrosis, cirrhosis or will need a liver transplant within 3 years. Due to an elevation of “bad cholesterol” (LDL) and triglyceride levels and a decrease of “good cholesterol” (HDL) the risk for atherosclerosis, cardiovascular disease and stroke is elevated.

Fabry Disease

In 1898 two physicians, the German Johann Fabry and the Englishman William Anderson, published the first reports about patients with crimson red dot-shaped skin rashes. Independently from each other both doctors described the skin phenomenon that covered larger areas of the body – one of the most overt symptoms of Fabry patients which often is the first sign of the disease.

Cause of the Fabry disease is a rare genetic defect which affects the production of the enzyme α-Galactosidase (α-GAL). This enzyme helps to break down sugar-containing fat molecules, and if it is lacking, fat molecules accumulate in blood vessel walls and other tissues. The condition damages many organs and tissues, it is therefore a multi-organ disease. In addition to the skin, the eyes, nervous system and heart can also be affected. Often Fabry disease is diagnosed with a delay of many years because the clinical picture can vary a lot between patients.

The first complaints usually occur between 4 and 8 years of age as burning pains and tingling sensations in hands and feet, unexplained fever attacks, reduced sweating and stomach cramps with diarrhea. With advanced age premature stroke, kidney failure or heart attacks are common. Without treatment Fabry disease is a progressive condition.


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Gaucher Disease

Gaucher disease is the most frequent amongst the 50 so-called lysosomal storage diseases. This very rare condition is caused by a genetic defect and the lack of the enzyme β-glucocerebrosidase. This enzyme is responsible for the breakdown of certain fats in the body. If these fats cannot be broken down they accumulate in scavenger cells (macrophages) which subsequently swell significantly. The swollen macrophages, also called Gaucher cells, infiltrate spleen, liver und bone marrow resulting in a wide range of symptoms. In some cases the nervous system can also be affected.

The resulting symptoms vary between patients. The enlargement of liver and spleen cause a feeling of pressure and pain in the stomach area and shortness of breath. Gaucher cells replace important blood-building cells in the bone marrow which results in an altered blood count and anemia with the feeling of tiredness and difficulties concentrating or increased bleeding and bruising. Due to a weakened immune system patients are more prone to infections. An imbalance between cells that build and break down bone lowers bone density, strong bone and joint pains all over the body follow.

World-wide there are about 100,000 people living with Gaucher disease. However, incidence for the condition in Ashkenazi-Jewish and Turkish populations is about 1:1000.


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Pompe Disease

Pompe disease was named after the Dutch physician and pathologist J. C. Pompe who first described the condition on a 7 month-old girl.

Today we know that Pompe disease belongs to the group of lysosomal storage diseases. These are very rare and hereditary metabolic diseases where specific substrates accumulate in lysosomes due to a lack of the degrading enzyme. Patients with Pompe disease lack the enzyme α-Glucosidase leading to an accumulation of glycogen (the storage form of glucose) and low levels of free available glucose. This especially affects muscle with subsequent muscle weakness and destruction of muscle tissue. Newborns show weak muscle tone and the inability to lift their heads by themselves. In childhood and adolescence shoulder and hip muscles are affected and enlargement of the tongue and partial loss of voice are possible. Other symptoms are difficulty swallowing, curvature of the spine, heart muscle cells dysfunction, progressive fatigue and gastro-intestinal complaints. In severe cases inability to move and breathe might occur requiring artificial respiration.

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Hurler/Scheie Syndrome (MPS I)

Mucopolysaccharidoses (MPS) are rare, hereditary lysosomal storage diseases where a genetic defect causes a lack of enzymes responsible for the breakdown of certain metabolic products called glucosamine glycanes (formerly mucopolysaccharides). The excess glucosamine glycanes accumulate in different organs where they gradually destroy healthy tissue.

The Hurler/Scheie syndrome (=mucopolysaccharidosis type I (MPS I)) is caused by a genetic defect resulting in a lack of the enzyme α-L-Iduronidase.

Even though all MPS I patients lack the exact same enzyme, the course of the disease can vary between patients with some people showing first signs of the disease straight after birth, others not before childhood or adolescence. The categorization is made by severity of the disease.

The most severe form is the Hurler syndrome, named after the German pediatrician Gertrud Hurler. Severe mental and physical disabilities become overt in early childhood with most patients passing away before age 10 due to heart failure or pneumonia.

A relatively mild form is the Scheie syndrome, named after the American ophthalmologist Harold Scheie. In this form, intelligence and life expectancy are often not affected. However, corneal opacity and joint stiffness occur in the second decade of life.

The Hurler-Scheie syndrome is a form with severity lying somewhere inbetween Hurler syndrome and Scheie syndrome.


Gesellschaft für Mukopolysaccharidosen e.V. – Visit Site

Hunter Syndrome (MPS II)

Mucopolysaccharidoses (MPS) are rare, hereditary lysosomal storage diseases where a genetic defect causes a lack of enzymes responsible for the breakdown of certain metabolic products called glucosamine glycanes (formerly mucopolysaccharides). The excess glucosamine glycanes accumulate in different organs where they gradually destroy healthy tissue.

In the case of the Hunter syndrome (MPS type II) the enzyme iduronate 2-sulfatase is lacking which is responsible for the breakdown of the mucopolysaccharides dermatan and heparan sulfate.

There are two versions of the Hunter syndrome, an early and severe type and a later, milder version. The classification can only be done by observation of the individual patient.

Typical for both versions are the enlargement of spleen and liver with bloated abdomen, recurring respiratory infections, coarseness of facial features (prominent forehead, short neck, flat and wide nose, bushy eyebrows, wide gaps between teeth), skin thickening, growth delay, joint stiffness and poor hearing and eye sight.

Patients with the severe form often show their first signs at an early age when children lose their newly acquired physical, mental and lingual abilities again. Often these children die prematurely of pneumonia or heart failure.

In the mild version there is still partial activity of the iduronate 2-sulfatase left. The syndrome only manifests at an advanced age and with milder symptoms.

Gesellschaft für Mukopolysaccharidosen e.V. – Visit Site

Morquio Syndrome (MPS IV)

Mucopolysaccharidoses (MPS) are rare, hereditary lysosomal storage diseases where a genetic defect causes a lack of enzymes responsible for the breakdown of certain metabolic products called glucosamine glycanes (formerly mucopolysaccharides). The excess glucosamine glycanes accumulate in different organs where they gradually destroy healthy tissue.

Morquio syndrome (MPS type IV) belongs to the very rare diseases with 1 person in 75,000 people affected. The Morquio syndrome was first described by Luis Morquió, a pediatrician from Uruguay. In the same year a radiologist from Birmingham, James Frederik Brailsford, published a report about the same disease picture. Therefore, the condition is called either ‘Morquio syndrome’ or ‘Morquio-Brailsford syndrome’.

In Morquio variant A the enzyme n-acetylgalactosamine-6-sulphatase is lacking. In the even rarer Morquio variant B the enzyme ß-Galactosidase is missing, which causes the same symptoms as in variant A but in a milder version.

Some Morquio syndrome patients are severely affected from childhood; others develop first signs not until adulthood. The typical appearance includes deformation of the skeleton, ribcage and spine, knock-knees and short body size (up to 120 cm). Also typical are a wide mouth, enlarged chin, flat nose and short neck. Even patients with the severe form often reach adult age.

Gesellschaft für Mukopolysaccharidosen e.V. – Visit Site

Maroteaux-Lamy Syndrome (MPS VI)

Mucopolysaccharidoses (MPS) are rare, hereditary lysosomal storage diseases where a genetic defect causes a lack of enzymes responsible for the breakdown of certain metabolic products called glucosamine glycanes (formerly mucopolysaccharides). The excess glucosamine glycanes accumulate in different organs where they gradually destroy healthy tissue.

MPS type VI was first described by two French physicians Pierre Maroteaux and Maurice Lamy in 1963. Due to a genetic defect the enzyme arylsulfatase B is lacking. Maroteaux-Lamy disease belongs to the very rare diseases with an incidence of 1 in 455,000.

The severity of the condition varies depending on the residual activity of the arylsulfatase B activity. With the milder version patients show hardly any changes in physical appearance. The typical changes are large head compared to body size, wide nose, protruding eyes, bulging lips, short neck, increased body hair, wide hands and feet and short body height. The intelligence of patients is often not affected.

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Paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a very rare disease with an incidence of <1 new case in 100,000 people per year. The cause of PNH is a spontaneous, non-hereditary gene mutation within the PIG-A gene of blood building stem cells.

This gene mutation results in a loss of the protective factors CD55 and CD59 that normally protect red blood cells and platelets from destruction by the body’s own complement system. The result is a chronic collapse of red blood cells and platelets (hemolysis), an increased risk for thromboses and a lowered production of new blood cells in the bone marrow.

Symptoms of anemia are pale skin, tiredness, headaches, shortness of breath and racing heartbeat. Due to the collapse of red blood cells bilirubin and hemoglobin are being released resulting in a yellow discoloration of the skin and eyes and brown coloration of the urine.

Other consequences are contraction of blood vessels with hypertension and constriction of the esophagus followed by difficulties swallowing. Issues with kidney function and erectile dysfunction are also common.

The chronic symptoms of PNH can worsen through a sudden activation of the complement system, e.g. by infections, pregnancy or stress resulting in a hematolytic crisis which can be deadly if left untreated. Fragments of destroyed blood cells block little kidney canals and end in acute kidney failure.

Without treatment about 35% of PNH patients die within 5 years of being diagnosed.


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Haemophilia

Haemophilia is a disorder of coagulation. As coagulation does not work or works incompletely, bleedings occur more often and in longer duration. That is why people also call it bleeding disease.

For the function of coagulation certain proteins so-called coagulation factors are necessary. They start a chain reaction and lead to the clotting of blood. In haemophilia one of these factors is not produced or not in an adequate number.

The several types of haemophilia are determined by the factor, that is missing. Haemophilia A is a deficit of factor VIII, haemophilia B is a deficit of factor IX and the Von-Willebrand-disease is a deficit of the Von-Willebrand-factor. Also the haemophilia has different severities. The lower the rest activity of the concerning factor is, the higher the severity of symptoms is.

Haemophilia is mostly a genetic disease. In case of haemophilia A and B the relevant gene is x-linked and is inherited recessively.  That is the reason why almost only men suffer from haemophilia. Women carrying the gene are called conductors. They usually are not afflicted with symptoms, but can pass the disease on. The Von-Willebrand-disease is inherited in autosomal-dominant or autosomal-recessive manner, so women and men are related to it equally.

If you want to know more about Haemophilia care, our Haemophilia team will be available for you at Fachapotheke Hämophilie

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Monday to Friday (9am – 5pm)

0800-120 30 120

Bergstraße 31, 69469 Weinheim