Is it a respiratory disease?

Scleroderma is not a respiratory pathology, but is defined as a chronic autoimmune disease that is included within rheumatic pathologies. What characterizes it is that lung involvement among people who suffer from it is very common, which is why we at the Lovexair Foundation feel interested in it.¹

 

Prevalence

In Europe, a disease will be considered minority rare or orphan if it affects less than 5 out of 10.000 inhabitants.^2,3. It is more frequent in women in the third and fifth decade of life, although it can appear at any age.¹

 

Etiology

Scleroderma is a disease of unknown cause that, according to recent studies, may be due to a set of genetic, environmental and infectious factors.^1,4.

 

Signos there sintomas

The signs and symptoms that appear will be determined by the type of alteration that occurs at the vascular, autoimmune or inflammatory level.^1,4.

 

It is characterized by being a very heterogeneous disease because the symptoms are highly variable from one patient to another depending on the organs that are affected.

 

The general manifestations are¹:

 

Tiredness or asthenia

Arthralgias with or without inflammation.

Myalgias with or without loss of strength.

Hand swelling.

Weightloss.

While others are more specific¹:

Cutaneous manifestations: hardening and thickening of the skin that causes changes in the physical appearance of the hands and face, mainly; changes in pigmentation, spider veins, calcium deposits…¹

Raynaud's phenomenon: it appears in 90% of cases and consists of episodes of changes in the coloration of the fingers and toes due to factors such as cold or stress, and can also affect the ears, lips and nose.^1,5.

Pulmonary involvement: It is very common in the form of fibrosis and pulmonary hypertension. Its development begins before the onset of symptoms (exertional dyspnea and cough).

Involvement of the digestive system: Although any section of it can be affected, alteration at the esophageal level is somewhat more frequent, evidencing problems with swallowing, reflux, burning..., and intestinal problems with constipation or diarrhea...

Cardiac involvement: Heart rhythm may be altered, in addition to the appearance of myocardial fibrosis and pericardial effusions.

Renal involvement: Sometimes it is the cause of high blood pressure and kidney failure.

Immunological alterations: Due to this, it is common for repeated infections to occur in different systems with a poor prognosis due to low defenses.

Psychiatric affectation: As it is a chronic degenerative and disabling disease with important social and labor affectation, the appearance of depressive and anxiety symptoms, in addition to sleep disturbances, is very frequent.

 

Classification ^1,4

Scleroderma is classified based on the extent of skin fibrosis into:

Localized: Affects only the skin:

Morphea: Most common form. It presents as patches of raised skin with changes in pigmentation. It affects the superficial layers of the skin.

Generalized morphea: The spots are more extensive. Periodic review is recommended because the organs can be affected.

Linear: A band or line of bulging skin appears, and the subcutaneous tissue and underlying muscle may be affected.

Coup de Saber: Linear scleroderma of the skin or scalp that can be associated with abnormalities in the facial bones.

Systemic: Affects internal organs. It is divided into:Limited:

Raynaud phenomenon of several years of evolution.

The skin of the face, hands, feet and forearms is affected.

Dilation of periungual capillaries.

Associated with pulmonary arterial hypertension with or without skin involvement, gastrointestinal disease, telangiectasias, or interstitial lung disease.

diffuse:

Raynaud's phenomenon with edematous changes in the hands of less than one year of evolution

Early appearance of renal involvement, pulmonary fibrosis, diffuse gastrointestinal and myocardial involvement.

Appearance of anti-5cl-70 and anti-RNA-polymerase-I, II or III antibodies.

 

clinical course⁴

In scleroderma, as the disease progresses, three phases of skin thickening appear:

1. Edematous phase: In the morning there is a sensation that the fingers are "fat" and as the day progresses this perception disappears or persists persistently, giving the fingers the shape of a sausage. It can be accompanied by painless edema on the back of the hands, forearms, legs and feet.
2. Indurative phase: Edema is replaced by skin thickening in diffuse scleroderma or in the limited form. Intense itching usually appears, erythema, the skin becomes shiny and tense, the folds on the joints disappear, facial changes occur (reduction in the size of the nose, loss of expression lines)...
3. Atrophic phase: Over the years the skin becomes softer and thinner but is adhered to the deep planes of the joints.

 

Discovery^1,6

There are three fundamental signs that help in the early diagnosis of the disease and to which the primary care physician must be very alert:

 

• Raynaud's phenomenon
• Edema in the fingers of the hands
• ANA positive
• When one or more of these signs appear, a specialist should be referred to carry out diagnostic tests.

 

Capillaroscopy: in which it is common to find megacapillaries, areas of capillary absence, capillary hemorrhages and branched capillaries.

Blood test.

Battery of tests to study if there is involvement of other organs: Pulmonary involvement study:

Simple chest x-ray

HRCT chest

Respiratory function tests with CO diffusion

Heart involvement study:

Electrocardiogram

Holter

echocardiogram

Study of pulmonary hypertension:

Doppler echocardiogram

Respiratory function tests with CO diffusion

Renal involvement:

Frequent blood pressure measurement

Blood and urine analysis looking for proteinuria, thrombocytopenia, hemolysis and elevated creatinine

Gastrointestinal involvement:

Barium study of the esophagus

Esophageal manometry.

 

Treatment^1,6

There is no curative treatment but there are treatments that are effective in some manifestations of the disease.

Pharmacological treatment: Vasodilators, antifibrotics and immunosuppressants

 

Other treatments:

TENS:

stem cell therapy

Day to day:

Hygienic-dietary measures:

Skin care taking proper hydration and taking care of wounds. correct sun protection

Avoid cold, stress and tobacco

frequent oral hygiene

Muscle stretching, massages…

Anti-reflux measures:

not frequent meals

Chew a lot and slowly

Not lying down until 2-3 hours after meals

Raise headboard of bed 15 cm

 

Bibliography

1. García Serna, B. What is scleroderma? Spanish Association of Scleroderma. 2015. http://www.esclerodermia.org/scleroderma/wp-content/uploads/2015/01/QUE_ES_LA_ESCLERODERMIA.pdf
2. What is a rare disease? eurordis.org
3. What are rare diseases? cyberer.es
4. Garza-Rodriguez, V; Villarreal-Alarcon, MA; Ocampo-Candiani, J. Etiopathogenesis and treatment of scleroderma. Current concepts. Rev Med Inst Mex Seguro Soc. 2013;51(5):50-7 http://www.medigraphic.com/pdfs/imss/im-2013/im131g.pdf
5. Raynaud's phenomenon. http://espanol.arthritis.org/espanol/disease-center/fenmeno-de-raynaud/
6. Moreno, A; Jucgla, A; Bordas, X. Scleroderma. Dermatology: Clinical-pathological correlation. https://www.menarini.es/images/dermatopatologia/Derma051.pdf